diff --git a/mtb.go b/mtb.go index e73a556..d4fe193 100644 --- a/mtb.go +++ b/mtb.go @@ -16,7 +16,6 @@ type Mtb struct { CarePlans []MTBCarePlan `json:"carePlans,omitempty"` ClaimResponses []ClaimResponse `json:"claimResponses,omitempty"` Claims []ClaimElement `json:"claims,omitempty"` - Consent Consent `json:"consent"` Diagnoses []MTBDiagnosis `json:"diagnoses,omitempty"` EcogStatus []PerformanceStatus `json:"ecogStatus,omitempty"` Episode *MTBEpisode `json:"episode,omitempty"` @@ -83,18 +82,12 @@ type ClaimElement struct { Therapy *string `json:"therapy,omitempty"` } -type Consent struct { - ID *string `json:"id,omitempty"` - Patient *NoTargetFindingPatient `json:"patient,omitempty"` - Status *ConsentStatus `json:"status,omitempty"` -} - type MTBDiagnosis struct { Code Coding `json:"code"` GuidelineTreatmentStatus *Coding `json:"guidelineTreatmentStatus,omitempty"` HistologyResults []string `json:"histologyResults,omitempty"` - IcdO3T *Coding `json:"icdO3T,omitempty"` ID string `json:"id"` + IcdO3T *Coding `json:"icdO3T,omitempty"` Patient NoTargetFindingPatient `json:"patient"` RecordedOn *string `json:"recordedOn,omitempty"` StatusHistory []StatusHistory `json:"statusHistory,omitempty"` @@ -206,8 +199,8 @@ type SomaticNGSReport struct { DnaFusions []DNAFusion `json:"dnaFusions,omitempty"` ID string `json:"id"` IssueDate *string `json:"issueDate,omitempty"` - Metadata []Metadatum `json:"metadata"` MSI *float64 `json:"msi,omitempty"` + Metadata []Metadatum `json:"metadata"` Patient NoTargetFindingPatient `json:"patient"` RnaFusions []RNAFusion `json:"rnaFusions,omitempty"` RnaSeqs []RNASeq `json:"rnaSeqs,omitempty"` @@ -219,9 +212,9 @@ type SomaticNGSReport struct { } type Cnv struct { - Chromosome Chromosome `json:"chromosome"` CNA *float64 `json:"cnA,omitempty"` CNB *float64 `json:"cnB,omitempty"` + Chromosome Chromosome `json:"chromosome"` CopyNumberNeutralLoH []CopyNumberNeutralLoH `json:"copyNumberNeutralLoH,omitempty"` EndRange EndRange `json:"endRange"` ID string `json:"id"` @@ -460,8 +453,8 @@ type CodingRECIST struct { type SpecimenElement struct { Collection *Collection `json:"collection,omitempty"` - Icd10 *Coding `json:"icd10,omitempty"` ID string `json:"id"` + Icd10 *Coding `json:"icd10,omitempty"` Patient NoTargetFindingPatient `json:"patient"` Type *CodingTumorSpecimenType `json:"type,omitempty"` } @@ -526,16 +519,9 @@ const ( type ClaimResponseStatus string const ( - Accepted ClaimResponseStatus = "accepted" - ClaimResponseStatusRejected ClaimResponseStatus = "rejected" - ClaimResponseStatusUnknown ClaimResponseStatus = "unknown" -) - -type ConsentStatus string - -const ( - Active ConsentStatus = "active" - ConsentStatusRejected ConsentStatus = "rejected" + Accepted ClaimResponseStatus = "accepted" + ClaimResponseStatusUnknown ClaimResponseStatus = "unknown" + Rejected ClaimResponseStatus = "rejected" ) type MTBDiagnosisTumorSpread string diff --git a/tests/mv64e-mtb-fake-patient.json b/tests/mv64e-mtb-fake-patient.json index 336bf9e..734b402 100644 --- a/tests/mv64e-mtb-fake-patient.json +++ b/tests/mv64e-mtb-fake-patient.json @@ -1,1531 +1 @@ -{ - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "gender": { - "code": "male", - "display": "Männlich", - "system": "Gender" - }, - "birthDate": "1977-03-15", - "dateOfDeath": "2008-03-15", - "healthInsurance": { - "extId": { - "value": "aok-ik", - "system": "IK" - }, - "display": "AOK", - "type": "Organization" - }, - "age": { - "value": 31, - "unit": "Years" - }, - "vitalStatus": { - "code": "deceased", - "display": "Verstorben", - "system": "dnpm-dip/patient/vital-status" - } - }, - "consent": {}, - "episodesOfCare": [ - { - "id": "d0634bb6-83d9-4c19-beb5-206bddd7513a", - "transferTan": "cda64713-7b31-402e-89f9-8fa8f9809507", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "period": { - "start": "2024-01-09" - }, - "diagnoses": [ - { - "id": "2b478ee3-f5c0-4429-8367-7215b1908a19", - "type": "MTBDiagnosis" - } - ] - } - ], - "diagnoses": [ - { - "id": "2b478ee3-f5c0-4429-8367-7215b1908a19", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "recordedOn": "2004-05-15", - "code": { - "code": "C76.7", - "display": "Bösartige Neubildung: Sonstige ungenau bezeichnete Lokalisationen", - "system": "http://fhir.de/CodeSystem/bfarm/icd-10-gm", - "version": "2024" - }, - "topography": { - "code": "C76.7", - "display": "Sonstiger mangelhaft bezeichneter Sitz", - "system": "urn:oid:2.16.840.1.113883.6.43.1", - "version": "Zweite Revision" - }, - "tumorGrade": { - "code": "G2", - "display": "G2 – mäßig differenziert", - "system": "dnpm-dip/mtb/tumor-grade" - }, - "whoGrading": { - "code": "2", - "display": "Diffuse astrocytoma", - "system": "dnpm-dip/mtb/who-grading-cns-tumors", - "version": "2021" - }, - "stageHistory": [ - { - "stage": { - "code": "local", - "display": "Lokal", - "system": "dnpm-dip/mtb/diagnosis/tumor-spread" - }, - "date": "2024-07-09" - } - ], - "guidelineTreatmentStatus": { - "code": "impossible", - "display": "Leitlinientherapie nicht möglich", - "system": "dnpm-dip/diagnosis/guideline-therapy/status" - } - } - ], - "guidelineTherapies": [ - { - "id": "386ba653-0b20-4801-9eb0-f937ed8a54e9", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "indication": { - "id": "2b478ee3-f5c0-4429-8367-7215b1908a19", - "display": "Bösartige Neubildung: Sonstige ungenau bezeichnete Lokalisationen", - "type": "MTBDiagnosis" - }, - "therapyLine": 3, - "recordedOn": "2024-07-09", - "status": { - "code": "stopped", - "display": "Abgebrochen", - "system": "dnpm-dip/therapy/status" - }, - "statusReason": { - "code": "progression", - "display": "Progression", - "system": "dnpm-dip/therapy/status-reason" - }, - "period": { - "start": "2022-08-09", - "end": "2023-02-14" - }, - "medication": [ - { - "code": "L01FX12", - "display": "Tafasitamab", - "system": "http://fhir.de/CodeSystem/bfarm/atc", - "version": "2024" - } - ], - "notes": "Notes on the therapy..." - }, - { - "id": "f3a7e152-0f86-4646-b671-29f083019783", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "indication": { - "id": "2b478ee3-f5c0-4429-8367-7215b1908a19", - "display": "Bösartige Neubildung: Sonstige ungenau bezeichnete Lokalisationen", - "type": "MTBDiagnosis" - }, - "therapyLine": 6, - "recordedOn": "2024-07-09", - "status": { - "code": "stopped", - "display": "Abgebrochen", - "system": "dnpm-dip/therapy/status" - }, - "statusReason": { - "code": "progression", - "display": "Progression", - "system": "dnpm-dip/therapy/status-reason" - }, - "period": { - "start": "2023-02-09", - "end": "2023-08-10" - }, - "medication": [ - { - "code": "L01FX28", - "display": "Glofitamab", - "system": "http://fhir.de/CodeSystem/bfarm/atc", - "version": "2024" - } - ], - "notes": "Notes on the therapy..." - } - ], - "guidelineProcedures": [ - { - "id": "43f81705-9e17-41d3-ae05-06958dd33d37", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "indication": { - "id": "2b478ee3-f5c0-4429-8367-7215b1908a19", - "display": "Bösartige Neubildung: Sonstige ungenau bezeichnete Lokalisationen", - "type": "MTBDiagnosis" - }, - "code": { - "code": "radio-therapy", - "display": "Strahlen-Therapie", - "system": "dnpm-dip/mtb/procedure/type" - }, - "status": { - "code": "completed", - "display": "Abgeschlossen", - "system": "dnpm-dip/therapy/status" - }, - "statusReason": { - "code": "progression", - "display": "Progression", - "system": "dnpm-dip/therapy/status-reason" - }, - "therapyLine": 8, - "recordedOn": "2024-07-09", - "period": { - "start": "2024-01-09" - }, - "notes": "Notes on the therapy..." - }, - { - "id": "89594d3d-0708-4620-8803-fa5de0e64a9d", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "indication": { - "id": "2b478ee3-f5c0-4429-8367-7215b1908a19", - "display": "Bösartige Neubildung: Sonstige ungenau bezeichnete Lokalisationen", - "type": "MTBDiagnosis" - }, - "code": { - "code": "surgery", - "display": "OP", - "system": "dnpm-dip/mtb/procedure/type" - }, - "status": { - "code": "on-going", - "display": "Laufend", - "system": "dnpm-dip/therapy/status" - }, - "statusReason": { - "code": "continued-externally", - "display": "Weiterbehandlung extern", - "system": "dnpm-dip/therapy/status-reason" - }, - "therapyLine": 8, - "recordedOn": "2024-07-09", - "period": { - "start": "2024-01-09" - }, - "notes": "Notes on the therapy..." - } - ], - "performanceStatus": [ - { - "id": "99f246e6-fb8c-40c4-880c-1e2e5658cbf6", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "effectiveDate": "2024-07-09", - "value": { - "code": "3", - "display": "ECOG 3", - "system": "ECOG-Performance-Status" - } - } - ], - "specimens": [ - { - "id": "5760dfb4-9012-454c-b315-5deafe999c8f", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "diagnosis": { - "id": "2b478ee3-f5c0-4429-8367-7215b1908a19", - "type": "MTBDiagnosis" - }, - "type": { - "code": "fresh-tissue", - "display": "Frischgewebe", - "system": "dnpm-dip/mtb/tumor-specimen/type" - }, - "collection": { - "date": "2024-07-09", - "method": { - "code": "liquid-biopsy", - "display": "Liquid Biopsy", - "system": "dnpm-dip/mtb/tumor-specimen/collection/method" - }, - "localization": { - "code": "metastasis", - "display": "Metastase", - "system": "dnpm-dip/mtb/tumor-specimen/collection/localization" - } - } - } - ], - "histologyReports": [ - { - "id": "ac78c911-238b-46e5-9bd5-36304e70174a", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "specimen": { - "id": "5760dfb4-9012-454c-b315-5deafe999c8f", - "type": "TumorSpecimen" - }, - "issuedOn": "2024-07-09", - "results": { - "tumorMorphology": { - "id": "dc18063a-89b9-4eca-a485-557368450cf7", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "specimen": { - "id": "5760dfb4-9012-454c-b315-5deafe999c8f", - "type": "TumorSpecimen" - }, - "value": { - "code": "8201/2", - "display": "Kribriformes Carcinoma in situ [C50.-]", - "system": "urn:oid:2.16.840.1.113883.6.43.1", - "version": "Zweite Revision" - }, - "notes": "Notes..." - }, - "tumorCellContent": { - "id": "cc19e1bb-178b-4264-9afd-0ba62c35d95f", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "specimen": { - "id": "5760dfb4-9012-454c-b315-5deafe999c8f", - "type": "TumorSpecimen" - }, - "method": { - "code": "histologic", - "display": "Histologisch", - "system": "dnpm-dip/mtb/tumor-cell-content/method" - }, - "value": 0.6964126464218567 - } - } - } - ], - "ihcReports": [ - { - "id": "2c97573a-f4dd-4c75-a630-7422cbe888f3", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "specimen": { - "id": "5760dfb4-9012-454c-b315-5deafe999c8f", - "type": "TumorSpecimen" - }, - "date": "2024-07-09", - "journalId": { - "value": "de45bb4c-ef64-4028-a55e-8a3d73842e6d" - }, - "blockId": { - "value": "93a9a7d9-54b8-4182-9da9-320f1a7fae02" - }, - "proteinExpressionResults": [ - { - "id": "60b82433-c0a6-4d0f-85e9-40f63b28ca22", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "protein": { - "code": "HGNC:11998", - "display": "TP53", - "system": "https://www.genenames.org/" - }, - "value": { - "code": "3+", - "display": "3+", - "system": "dnpm-dip/mtb/ihc/protein-expression/result" - }, - "tpsScore": 27, - "icScore": { - "code": "0", - "display": "< 1%", - "system": "dnpm-dip/mtb/ihc/protein-expression/ic-score" - }, - "tcScore": { - "code": "2", - "display": ">= 5%", - "system": "dnpm-dip/mtb/ihc/protein-expression/tc-score" - } - }, - { - "id": "ecfab030-b3e4-4c33-a50b-e8933c9b3593", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "protein": { - "code": "HGNC:1097", - "display": "BRAF", - "system": "https://www.genenames.org/" - }, - "value": { - "code": "not-exp", - "display": "Nicht exprimiert", - "system": "dnpm-dip/mtb/ihc/protein-expression/result" - }, - "tpsScore": 87, - "icScore": { - "code": "2", - "display": ">= 5%", - "system": "dnpm-dip/mtb/ihc/protein-expression/ic-score" - }, - "tcScore": { - "code": "1", - "display": ">= 1%", - "system": "dnpm-dip/mtb/ihc/protein-expression/tc-score" - } - }, - { - "id": "3eab7c68-bf01-462a-8c55-7306c4ce8ea6", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "protein": { - "code": "HGNC:11998", - "display": "TP53", - "system": "https://www.genenames.org/" - }, - "value": { - "code": "3+", - "display": "3+", - "system": "dnpm-dip/mtb/ihc/protein-expression/result" - }, - "tpsScore": 88, - "icScore": { - "code": "2", - "display": ">= 5%", - "system": "dnpm-dip/mtb/ihc/protein-expression/ic-score" - }, - "tcScore": { - "code": "4", - "display": ">= 25%", - "system": "dnpm-dip/mtb/ihc/protein-expression/tc-score" - } - }, - { - "id": "b0bb41e1-27a6-48c2-ae16-b3a40c463e68", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "protein": { - "code": "HGNC:5173", - "display": "HRAS", - "system": "https://www.genenames.org/" - }, - "value": { - "code": "1+", - "display": "1+", - "system": "dnpm-dip/mtb/ihc/protein-expression/result" - }, - "tpsScore": 60, - "icScore": { - "code": "0", - "display": "< 1%", - "system": "dnpm-dip/mtb/ihc/protein-expression/ic-score" - }, - "tcScore": { - "code": "2", - "display": ">= 5%", - "system": "dnpm-dip/mtb/ihc/protein-expression/tc-score" - } - } - ], - "msiMmrResults": [] - } - ], - "ngsReports": [ - { - "id": "4cbfc863-1977-4293-8141-96a4ef411fe9", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "specimen": { - "id": "5760dfb4-9012-454c-b315-5deafe999c8f", - "type": "TumorSpecimen" - }, - "issuedOn": "2024-07-09", - "sequencingType": { - "code": "exome", - "display": "Exome", - "system": "dnpm-dip/ngs/sequencing-type" - }, - "metadata": [ - { - "kitType": "Kit Type", - "kitManufacturer": "Manufacturer", - "sequencer": "Sequencer", - "referenceGenome": "HG19", - "pipeline": "https://github.com/pipeline-project" - } - ], - "results": { - "tumorCellContent": { - "id": "0aaa088d-da71-498b-8f5b-67851642fc3b", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "specimen": { - "id": "5760dfb4-9012-454c-b315-5deafe999c8f", - "type": "TumorSpecimen" - }, - "method": { - "code": "bioinformatic", - "display": "Bioinformatisch", - "system": "dnpm-dip/mtb/tumor-cell-content/method" - }, - "value": 0.8488462340782923 - }, - "tmb": { - "id": "32008349-cf95-47a0-b5fe-0a692e96184f", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "specimen": { - "id": "5760dfb4-9012-454c-b315-5deafe999c8f", - "type": "TumorSpecimen" - }, - "value": { - "value": 298193, - "unit": "Mutations per megabase" - }, - "interpretation": { - "code": "low", - "display": "Niedrig", - "system": "dnpm-dip/mtb/ngs/tmb/interpretation" - } - }, - "brcaness": { - "id": "6fec2a4c-d354-441d-8bd1-51ceb0094abc", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "specimen": { - "id": "5760dfb4-9012-454c-b315-5deafe999c8f", - "type": "TumorSpecimen" - }, - "value": 0.5, - "confidenceRange": { - "min": 0.4, - "max": 0.6 - } - }, - "hrdScore": { - "id": "43a0f938-cb49-4f09-988e-4d7bdcafcd00", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "specimen": { - "id": "5760dfb4-9012-454c-b315-5deafe999c8f", - "type": "TumorSpecimen" - }, - "value": 0.06698695819348954, - "components": { - "lst": 0.3949619863732128, - "loh": 0.8542926541406639, - "tai": 0.5884686564371258 - }, - "interpretation": { - "code": "low", - "display": "Niedrig", - "system": "dnpm-dip/mtb/ngs/hrd-score/interpretation" - } - }, - "simpleVariants": [ - { - "id": "ab846e35-c4c1-4ead-a7ba-f070b03c155e", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "externalIds": [ - { - "value": "70f5a7bb-9b7f-48ac-a236-fb7968a68f7d", - "system": "https://www.ncbi.nlm.nih.gov/snp/" - }, - { - "value": "afe100b1-375b-471c-ba0d-d11c578764e9", - "system": "https://cancer.sanger.ac.uk/cosmic" - } - ], - "chromosome": { - "code": "chr2", - "display": "chr2", - "system": "chromosome" - }, - "gene": { - "code": "HGNC:6407", - "display": "KRAS", - "system": "https://www.genenames.org/" - }, - "transcriptId": { - "value": "9eedaa8a-085e-440c-8f2d-665830944ce9", - "system": "https://www.ensembl.org/index.html" - }, - "position": { - "start": 497 - }, - "altAllele": "G", - "refAllele": "C", - "dnaChange": { - "code": "c.497C>G", - "system": "https://hgvs-nomenclature.org" - }, - "proteinChange": { - "code": "p.Lys23_Val25del", - "system": "https://hgvs-nomenclature.org" - }, - "readDepth": 9, - "allelicFrequency": 0.14597505331005867, - "interpretation": { - "code": "3", - "display": "Uncertain significance", - "system": "https://www.ncbi.nlm.nih.gov/clinvar/" - } - }, - { - "id": "546c0677-a7b7-4d55-b3d8-5151457b023d", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "externalIds": [ - { - "value": "299b3cac-3ad2-4203-9754-a7613ee8dea5", - "system": "https://www.ncbi.nlm.nih.gov/snp/" - }, - { - "value": "22f767c3-b359-401e-a0b1-647adffe3ee9", - "system": "https://cancer.sanger.ac.uk/cosmic" - } - ], - "chromosome": { - "code": "chr4", - "display": "chr4", - "system": "chromosome" - }, - "gene": { - "code": "HGNC:5173", - "display": "HRAS", - "system": "https://www.genenames.org/" - }, - "transcriptId": { - "value": "34357423-91b1-46c3-b9a4-b9e236d07d7d", - "system": "https://www.ensembl.org/index.html" - }, - "position": { - "start": 449 - }, - "altAllele": "T", - "refAllele": "C", - "dnaChange": { - "code": "c.449C>T", - "system": "https://hgvs-nomenclature.org" - }, - "proteinChange": { - "code": "p.Lys23_Val25del", - "system": "https://hgvs-nomenclature.org" - }, - "readDepth": 21, - "allelicFrequency": 0.929058459806847, - "interpretation": { - "code": "4", - "display": "Likely pathogenic", - "system": "https://www.ncbi.nlm.nih.gov/clinvar/" - } - }, - { - "id": "30f5ad5a-ac59-4fc2-af19-9321d5aad4ea", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "externalIds": [ - { - "value": "c27a1775-dbba-42af-9641-9c26c44c3866", - "system": "https://www.ncbi.nlm.nih.gov/snp/" - }, - { - "value": "a6fab5be-b2b5-4260-8a2c-681d9cfef100", - "system": "https://cancer.sanger.ac.uk/cosmic" - } - ], - "chromosome": { - "code": "chr9", - "display": "chr9", - "system": "chromosome" - }, - "gene": { - "code": "HGNC:6407", - "display": "KRAS", - "system": "https://www.genenames.org/" - }, - "transcriptId": { - "value": "b82aafff-afc1-40fe-bde0-e5b7f3c06b9d", - "system": "https://www.ensembl.org/index.html" - }, - "position": { - "start": 199 - }, - "altAllele": "G", - "refAllele": "T", - "dnaChange": { - "code": "c.199T>G", - "system": "https://hgvs-nomenclature.org" - }, - "proteinChange": { - "code": "p.(Glu125_Ala132delinsGlyLeuHisArgPheIleValLeu)", - "system": "https://hgvs-nomenclature.org" - }, - "readDepth": 23, - "allelicFrequency": 0.6280972522555942, - "interpretation": { - "code": "0", - "display": "Not Applicable", - "system": "https://www.ncbi.nlm.nih.gov/clinvar/" - } - }, - { - "id": "dffc6391-c2dd-4114-9b35-21048b16a5e8", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "externalIds": [ - { - "value": "9c2af2ba-c400-4bdc-aa45-bcffa01b86c0", - "system": "https://www.ncbi.nlm.nih.gov/snp/" - }, - { - "value": "00be47f4-d2ac-4c90-9569-3909693e050b", - "system": "https://cancer.sanger.ac.uk/cosmic" - } - ], - "chromosome": { - "code": "chr2", - "display": "chr2", - "system": "chromosome" - }, - "gene": { - "code": "HGNC:3690", - "display": "FGFR3", - "system": "https://www.genenames.org/" - }, - "transcriptId": { - "value": "bc9d7f41-1e33-44c6-8854-32ba14c7bc85", - "system": "https://www.ensembl.org/index.html" - }, - "position": { - "start": 446 - }, - "altAllele": "A", - "refAllele": "C", - "dnaChange": { - "code": "c.446C>A", - "system": "https://hgvs-nomenclature.org" - }, - "proteinChange": { - "code": "p.Cys28delinsTrpVal", - "system": "https://hgvs-nomenclature.org" - }, - "readDepth": 6, - "allelicFrequency": 0.8192427503946907, - "interpretation": { - "code": "2", - "display": "Likely benign", - "system": "https://www.ncbi.nlm.nih.gov/clinvar/" - } - }, - { - "id": "97021fec-3038-4d40-a923-a7185f2dd45c", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "externalIds": [ - { - "value": "b3e669b9-daec-4020-a876-fe8cd984ec07", - "system": "https://www.ncbi.nlm.nih.gov/snp/" - }, - { - "value": "5328e42e-bcd2-4dd2-ac2c-e52d860e7cdb", - "system": "https://cancer.sanger.ac.uk/cosmic" - } - ], - "chromosome": { - "code": "chr4", - "display": "chr4", - "system": "chromosome" - }, - "gene": { - "code": "HGNC:391", - "display": "AKT1", - "system": "https://www.genenames.org/" - }, - "transcriptId": { - "value": "02e810a2-a8ee-48fa-98ee-c2555dedec2b", - "system": "https://www.ensembl.org/index.html" - }, - "position": { - "start": 181 - }, - "altAllele": "C", - "refAllele": "G", - "dnaChange": { - "code": "c.181G>C", - "system": "https://hgvs-nomenclature.org" - }, - "proteinChange": { - "code": "p.(His321Leufs*3)", - "system": "https://hgvs-nomenclature.org" - }, - "readDepth": 18, - "allelicFrequency": 0.9486252825502527, - "interpretation": { - "code": "0", - "display": "Not Applicable", - "system": "https://www.ncbi.nlm.nih.gov/clinvar/" - } - } - ], - "copyNumberVariants": [ - { - "id": "67f5f94a-7210-4298-832b-79cbd8c3f602", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "chromosome": { - "code": "chr19", - "display": "chr19", - "system": "chromosome" - }, - "startRange": { - "start": 16044, - "end": 16086 - }, - "endRange": { - "start": 16189, - "end": 16239 - }, - "totalCopyNumber": 1, - "relativeCopyNumber": 0.21581784365462364, - "cnA": 0.2529681162704943, - "cnB": 0.09643290658258796, - "reportedAffectedGenes": [ - { - "code": "HGNC:391", - "display": "AKT1", - "system": "https://www.genenames.org/" - } - ], - "reportedFocality": "partial q-arm", - "type": { - "code": "loss", - "display": "Loss", - "system": "dnpm-dip/mtb/ngs-report/cnv/type" - }, - "copyNumberNeutralLoH": [ - { - "code": "HGNC:6407", - "display": "KRAS", - "system": "https://www.genenames.org/" - } - ] - }, - { - "id": "81916886-c2bb-43c2-b3b1-8205b731aae5", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "chromosome": { - "code": "chr21", - "display": "chr21", - "system": "chromosome" - }, - "startRange": { - "start": 39802, - "end": 39844 - }, - "endRange": { - "start": 40267, - "end": 40317 - }, - "totalCopyNumber": 3, - "relativeCopyNumber": 0.6944561507132927, - "cnA": 0.7565931684718212, - "cnB": 0.7741518026256429, - "reportedAffectedGenes": [ - { - "code": "HGNC:6407", - "display": "KRAS", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:1097", - "display": "BRAF", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:1100", - "display": "BRCA1", - "system": "https://www.genenames.org/" - } - ], - "reportedFocality": "partial q-arm", - "type": { - "code": "low-level-gain", - "display": "Low-level-gain", - "system": "dnpm-dip/mtb/ngs-report/cnv/type" - }, - "copyNumberNeutralLoH": [ - { - "code": "HGNC:3689", - "display": "FGFR2", - "system": "https://www.genenames.org/" - } - ] - }, - { - "id": "1aaf355a-62ef-40ec-ac84-2ed6b64c25ce", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "chromosome": { - "code": "chr2", - "display": "chr2", - "system": "chromosome" - }, - "startRange": { - "start": 7155, - "end": 7197 - }, - "endRange": { - "start": 7284, - "end": 7334 - }, - "totalCopyNumber": 2, - "relativeCopyNumber": 0.11504463549534216, - "cnA": 0.6489287849115875, - "cnB": 0.13740853100802786, - "reportedAffectedGenes": [ - { - "code": "HGNC:391", - "display": "AKT1", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:5173", - "display": "HRAS", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:1100", - "display": "BRCA1", - "system": "https://www.genenames.org/" - } - ], - "reportedFocality": "partial q-arm", - "type": { - "code": "low-level-gain", - "display": "Low-level-gain", - "system": "dnpm-dip/mtb/ngs-report/cnv/type" - }, - "copyNumberNeutralLoH": [ - { - "code": "HGNC:76", - "display": "ABL1", - "system": "https://www.genenames.org/" - } - ] - }, - { - "id": "773f6c76-faaf-47bf-b554-709679935b9e", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "chromosome": { - "code": "chr19", - "display": "chr19", - "system": "chromosome" - }, - "startRange": { - "start": 7321, - "end": 7363 - }, - "endRange": { - "start": 7867, - "end": 7917 - }, - "totalCopyNumber": 1, - "relativeCopyNumber": 0.7259188532974242, - "cnA": 0.5950764310251827, - "cnB": 0.5384386131573586, - "reportedAffectedGenes": [ - { - "code": "HGNC:5173", - "display": "HRAS", - "system": "https://www.genenames.org/" - } - ], - "reportedFocality": "partial q-arm", - "type": { - "code": "loss", - "display": "Loss", - "system": "dnpm-dip/mtb/ngs-report/cnv/type" - }, - "copyNumberNeutralLoH": [ - { - "code": "HGNC:3689", - "display": "FGFR2", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:6407", - "display": "KRAS", - "system": "https://www.genenames.org/" - } - ] - }, - { - "id": "4e7107e4-bbc6-41cc-b6fe-37e65b96ab57", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "chromosome": { - "code": "chr19", - "display": "chr19", - "system": "chromosome" - }, - "startRange": { - "start": 16016, - "end": 16058 - }, - "endRange": { - "start": 16601, - "end": 16651 - }, - "totalCopyNumber": 7, - "relativeCopyNumber": 0.20090926699505263, - "cnA": 0.022847976828443195, - "cnB": 0.4081382139537255, - "reportedAffectedGenes": [ - { - "code": "HGNC:1097", - "display": "BRAF", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:76", - "display": "ABL1", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:1100", - "display": "BRCA1", - "system": "https://www.genenames.org/" - } - ], - "reportedFocality": "partial q-arm", - "type": { - "code": "high-level-gain", - "display": "High-level-gain", - "system": "dnpm-dip/mtb/ngs-report/cnv/type" - }, - "copyNumberNeutralLoH": [ - { - "code": "HGNC:5173", - "display": "HRAS", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:3690", - "display": "FGFR3", - "system": "https://www.genenames.org/" - } - ] - }, - { - "id": "d80eb862-7d46-453e-83e4-575c16d8a2f1", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "chromosome": { - "code": "chrY", - "display": "chrY", - "system": "chromosome" - }, - "startRange": { - "start": 12500, - "end": 12542 - }, - "endRange": { - "start": 12791, - "end": 12841 - }, - "totalCopyNumber": 7, - "relativeCopyNumber": 0.6146868961350509, - "cnA": 0.05361036969744892, - "cnB": 0.7939811403382872, - "reportedAffectedGenes": [ - { - "code": "HGNC:6973", - "display": "MDM2", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:391", - "display": "AKT1", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:3689", - "display": "FGFR2", - "system": "https://www.genenames.org/" - } - ], - "reportedFocality": "partial q-arm", - "type": { - "code": "high-level-gain", - "display": "High-level-gain", - "system": "dnpm-dip/mtb/ngs-report/cnv/type" - }, - "copyNumberNeutralLoH": [ - { - "code": "HGNC:6973", - "display": "MDM2", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:391", - "display": "AKT1", - "system": "https://www.genenames.org/" - } - ] - } - ], - "dnaFusions": [], - "rnaFusions": [], - "rnaSeqs": [] - } - } - ], - "carePlans": [ - { - "id": "6906ca1b-8169-471d-9156-e807654fae8a", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "indication": { - "id": "2b478ee3-f5c0-4429-8367-7215b1908a19", - "display": "Bösartige Neubildung: Sonstige ungenau bezeichnete Lokalisationen", - "type": "MTBDiagnosis" - }, - "issuedOn": "2024-07-09", - "statusReason": { - "code": "no-target", - "display": "Keine Therapeutische Konsequenz", - "system": "dnpm-dip/mtb/careplan/status-reason" - }, - "medicationRecommendations": [ - { - "id": "dcb9b2c7-7311-4801-9675-948f00870070", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "indication": { - "id": "2b478ee3-f5c0-4429-8367-7215b1908a19", - "display": "Bösartige Neubildung: Sonstige ungenau bezeichnete Lokalisationen", - "type": "MTBDiagnosis" - }, - "issuedOn": "2024-07-09", - "levelOfEvidence": { - "grading": { - "code": "m4", - "display": "m4", - "system": "dnpm-dip/mtb/level-of-evidence/grading" - }, - "addendums": [ - { - "code": "R", - "display": "R", - "system": "dnpm-dip/mtb/level-of-evidence/addendum" - } - ], - "publications": [ - { - "extId": { - "value": "1173657729", - "system": "https://pubmed.ncbi.nlm.nih.gov/" - }, - "type": "Publication" - } - ] - }, - "priority": { - "code": "1", - "display": "1", - "system": "dnpm-dip/therapy-recommendation/priority" - }, - "medication": [ - { - "code": "L01EX08", - "display": "Lenvatinib", - "system": "http://fhir.de/CodeSystem/bfarm/atc", - "version": "2024" - } - ], - "supportingVariants": [ - { - "id": "4e7107e4-bbc6-41cc-b6fe-37e65b96ab57", - "display": "CNV BRAF,ABL1,BRCA1 High-level-gain", - "type": "Variant" - } - ] - }, - { - "id": "4478c7f1-cdcf-41f5-8245-7da7784279ef", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "indication": { - "id": "2b478ee3-f5c0-4429-8367-7215b1908a19", - "display": "Bösartige Neubildung: Sonstige ungenau bezeichnete Lokalisationen", - "type": "MTBDiagnosis" - }, - "issuedOn": "2024-07-09", - "levelOfEvidence": { - "grading": { - "code": "m2B", - "display": "m2B", - "system": "dnpm-dip/mtb/level-of-evidence/grading" - }, - "addendums": [ - { - "code": "R", - "display": "R", - "system": "dnpm-dip/mtb/level-of-evidence/addendum" - } - ], - "publications": [ - { - "extId": { - "value": "855039712", - "system": "https://pubmed.ncbi.nlm.nih.gov/" - }, - "type": "Publication" - } - ] - }, - "priority": { - "code": "4", - "display": "4", - "system": "dnpm-dip/therapy-recommendation/priority" - }, - "medication": [ - { - "code": "L01FX05", - "display": "Brentuximab vedotin", - "system": "http://fhir.de/CodeSystem/bfarm/atc", - "version": "2024" - } - ], - "supportingVariants": [ - { - "id": "ab846e35-c4c1-4ead-a7ba-f070b03c155e", - "display": "SNV KRAS p.Lys23_Val25del", - "type": "Variant" - } - ] - } - ], - "geneticCounselingRecommendation": { - "id": "432f3ff8-ac56-4139-94c9-fa685bc37130", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "issuedOn": "2024-07-09", - "reason": { - "code": "secondary-tumor", - "display": "Zweittumor", - "system": "dnpm-dip/mtb/recommendation/genetic-counseling/reason" - } - }, - "studyEnrollmentRecommendations": [ - { - "id": "fac762fb-288f-4e26-a2f2-ccdf03c9804d", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "reason": { - "id": "2b478ee3-f5c0-4429-8367-7215b1908a19", - "display": "Bösartige Neubildung: Sonstige ungenau bezeichnete Lokalisationen", - "type": "MTBDiagnosis" - }, - "issuedOn": "2024-07-09", - "levelOfEvidence": { - "code": "m4", - "display": "m4", - "system": "dnpm-dip/mtb/level-of-evidence/grading" - }, - "supportingVariants": [ - { - "id": "4e7107e4-bbc6-41cc-b6fe-37e65b96ab57", - "display": "CNV BRAF,ABL1,BRCA1 High-level-gain", - "type": "Variant" - } - ], - "studies": [ - { - "value": "NCT:21972101", - "system": "NCT" - } - ] - } - ], - "notes": "Protocol of the MTB conference..." - } - ], - "claims": [ - { - "id": "b5dd7735-0dfc-49c4-ac4d-f17ee5b3afe8", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "recommendation": { - "id": "dcb9b2c7-7311-4801-9675-948f00870070", - "type": "MTBMedicationRecommendation" - }, - "issuedOn": "2024-07-09", - "stage": { - "code": "initial-claim", - "display": "Erstantrag", - "system": "dnpm-dip/mtb/claim/stage" - } - }, - { - "id": "ba800730-ad27-4723-a4dc-dd02bfd96f79", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "recommendation": { - "id": "4478c7f1-cdcf-41f5-8245-7da7784279ef", - "type": "MTBMedicationRecommendation" - }, - "issuedOn": "2024-07-09", - "stage": { - "code": "initial-claim", - "display": "Erstantrag", - "system": "dnpm-dip/mtb/claim/stage" - } - } - ], - "claimResponses": [ - { - "id": "4d70791b-1727-4a80-8afc-ee655acfdb77", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "claim": { - "id": "b5dd7735-0dfc-49c4-ac4d-f17ee5b3afe8", - "type": "Claim" - }, - "issuedOn": "2024-07-09", - "status": { - "code": "rejected", - "display": "Abgelehnt", - "system": "dnpm-dip/mtb/claim-response/status" - }, - "statusReason": { - "code": "unknown", - "display": "Unbekant", - "system": "dnpm-dip/mtb/claim-response/status-reason" - } - }, - { - "id": "82ecffc7-5ac8-47d7-9697-27061c1b1c53", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "claim": { - "id": "ba800730-ad27-4723-a4dc-dd02bfd96f79", - "type": "Claim" - }, - "issuedOn": "2024-07-09", - "status": { - "code": "rejected", - "display": "Abgelehnt", - "system": "dnpm-dip/mtb/claim-response/status" - }, - "statusReason": { - "code": "unknown", - "display": "Unbekant", - "system": "dnpm-dip/mtb/claim-response/status-reason" - } - } - ], - "therapies": [ - { - "history": [ - { - "id": "6f0f1bb5-7633-4834-8ed4-0efb43bcaf42", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "indication": { - "id": "2b478ee3-f5c0-4429-8367-7215b1908a19", - "display": "Bösartige Neubildung: Sonstige ungenau bezeichnete Lokalisationen", - "type": "MTBDiagnosis" - }, - "basedOn": { - "id": "dcb9b2c7-7311-4801-9675-948f00870070", - "type": "MTBMedicationRecommendation" - }, - "recordedOn": "2024-07-09", - "status": { - "code": "on-going", - "display": "Laufend", - "system": "dnpm-dip/therapy/status" - }, - "period": { - "start": "2007-09-29", - "end": "2008-03-15" - }, - "medication": [ - { - "code": "L01EX08", - "display": "Lenvatinib", - "system": "http://fhir.de/CodeSystem/bfarm/atc", - "version": "2024" - } - ], - "notes": "Notes on the therapy..." - } - ] - }, - { - "history": [ - { - "id": "634aa031-a4a1-4137-8895-07dcb543e245", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "indication": { - "id": "2b478ee3-f5c0-4429-8367-7215b1908a19", - "display": "Bösartige Neubildung: Sonstige ungenau bezeichnete Lokalisationen", - "type": "MTBDiagnosis" - }, - "basedOn": { - "id": "4478c7f1-cdcf-41f5-8245-7da7784279ef", - "type": "MTBMedicationRecommendation" - }, - "recordedOn": "2024-07-09", - "status": { - "code": "not-done", - "display": "Nicht umgesetzt", - "system": "dnpm-dip/therapy/status" - }, - "statusReason": { - "code": "payment-refused", - "display": "Kostenübernahme abgelehnt", - "system": "dnpm-dip/therapy/status-reason" - }, - "notes": "Notes on the therapy..." - } - ] - } - ], - "responses": [ - { - "id": "f9e27ff2-0b65-4416-86cd-2b4085fd92a2", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "therapy": { - "id": "6f0f1bb5-7633-4834-8ed4-0efb43bcaf42", - "type": "MTBMedicationTherapy" - }, - "effectiveDate": "2008-01-12", - "value": { - "code": "CR", - "display": "Complete Response", - "system": "RECIST" - } - }, - { - "id": "9231408b-bc7e-482a-808b-3af09b212dad", - "patient": { - "id": "fbd23d0b-f81b-4a2f-b53b-e93871069cfd", - "type": "Patient" - }, - "therapy": { - "id": "634aa031-a4a1-4137-8895-07dcb543e245", - "type": "MTBMedicationTherapy" - }, - "effectiveDate": "2024-07-09", - "value": { - "code": "SD", - "display": "Stable Disease", - "system": "RECIST" - } - } - ] -} \ No newline at end of file +{"patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","gender":{"code":"female","display":"Weiblich","system":"Gender"},"birthDate":"1966-08-18","healthInsurance":{"extId":{"value":"aok-ik","system":"IK"},"display":"AOK","type":"Organization"},"age":{"value":58,"unit":"Years"},"vitalStatus":{"code":"alive","display":"Lebend","system":"dnpm-dip/patient/vital-status"}},"episodesOfCare":[{"id":"d6e443e1-de1a-4e15-8264-4623e6f037f7","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"period":{"start":"2024-04-04"},"diagnoses":[{"id":"a717414b-5ee1-4755-a97e-d6802d8f4d88","type":"MTBDiagnosis"}]}],"diagnoses":[{"id":"a717414b-5ee1-4755-a97e-d6802d8f4d88","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"recordedOn":"2021-12-18","code":{"code":"C79.1","display":"Sekundäre bösartige Neubildung der Harnblase sowie sonstiger und nicht näher bezeichneter Harnorgane","system":"http://fhir.de/CodeSystem/bfarm/icd-10-gm","version":"2024"},"tumorGrade":{"code":"G4","display":"G4 – nicht differenziert (sehr bösartig)","system":"dnpm-dip/mtb/tumor-grade"},"whoGrading":{"code":"2","display":"Diffuse astrocytoma","system":"dnpm-dip/mtb/who-grading-cns-tumors","version":"2021"},"stageHistory":[{"stage":{"code":"tumor-free","display":"Tumorfrei","system":"dnpm-dip/mtb/diagnosis/tumor-spread"},"date":"2024-10-04"}],"guidelineTreatmentStatus":{"code":"impossible","display":"Leitlinientherapie nicht möglich","system":"dnpm-dip/diagnosis/guideline-therapy/status"}}],"guidelineTherapies":[{"id":"e0745133-6bbe-44d9-a22e-7579ada53834","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"indication":{"id":"a717414b-5ee1-4755-a97e-d6802d8f4d88","display":"Sekundäre bösartige Neubildung der Harnblase sowie sonstiger und nicht näher bezeichneter Harnorgane","type":"MTBDiagnosis"},"therapyLine":8,"recordedOn":"2024-10-04","status":{"code":"stopped","display":"Abgebrochen","system":"dnpm-dip/therapy/status"},"statusReason":{"code":"progression","display":"Progression","system":"dnpm-dip/therapy/status-reason"},"period":{"start":"2023-07-04","end":"2024-03-05"},"medication":[{"code":"L01FX09","display":"Mogamulizumab","system":"http://fhir.de/CodeSystem/bfarm/atc","version":"2024"}],"notes":"Notes on the therapy..."}],"guidelineProcedures":[{"id":"73c08115-cb21-4b51-8594-820d4e6067b8","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"indication":{"id":"a717414b-5ee1-4755-a97e-d6802d8f4d88","display":"Sekundäre bösartige Neubildung der Harnblase sowie sonstiger und nicht näher bezeichneter Harnorgane","type":"MTBDiagnosis"},"code":{"code":"radio-therapy","display":"Strahlen-Therapie","system":"dnpm-dip/mtb/procedure/type"},"status":{"code":"completed","display":"Abgeschlossen","system":"dnpm-dip/therapy/status"},"statusReason":{"code":"deterioration","display":"Zustandsverschlechterung","system":"dnpm-dip/therapy/status-reason"},"therapyLine":8,"recordedOn":"2024-10-04","period":{"start":"2024-04-04"},"notes":"Notes on the therapy..."},{"id":"ddaa84d6-82b8-4e7c-a4dd-acce7aa8c353","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"indication":{"id":"a717414b-5ee1-4755-a97e-d6802d8f4d88","display":"Sekundäre bösartige Neubildung der Harnblase sowie sonstiger und nicht näher bezeichneter Harnorgane","type":"MTBDiagnosis"},"code":{"code":"nuclear-medicine","display":"Nuklearmedizinische Therapie","system":"dnpm-dip/mtb/procedure/type"},"status":{"code":"stopped","display":"Abgebrochen","system":"dnpm-dip/therapy/status"},"statusReason":{"code":"other-therapy-chosen","display":"Wahl einer anderen Therapie durch Behandler","system":"dnpm-dip/therapy/status-reason"},"therapyLine":4,"recordedOn":"2024-10-04","period":{"start":"2024-04-04"},"notes":"Notes on the therapy..."}],"performanceStatus":[{"id":"c11f3664-c6a8-4510-81bf-3c0ac5871408","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"effectiveDate":"2024-10-04","value":{"code":"2","display":"ECOG 2","system":"ECOG-Performance-Status"}}],"specimens":[{"id":"5b0b2dcf-eb63-4d4b-a35c-f122eaf78e98","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"diagnosis":{"id":"a717414b-5ee1-4755-a97e-d6802d8f4d88","type":"MTBDiagnosis"},"type":{"code":"liquid-biopsy","display":"Liquid Biopsy","system":"dnpm-dip/mtb/tumor-specimen/type"},"collection":{"date":"2024-10-04","method":{"code":"biopsy","display":"Biopsie","system":"dnpm-dip/mtb/tumor-specimen/collection/method"},"localization":{"code":"primary-tumor","display":"Primärtumor","system":"dnpm-dip/mtb/tumor-specimen/collection/localization"}}}],"histologyReports":[{"id":"6209fbef-769b-46a0-beb0-ec094a769994","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"specimen":{"id":"5b0b2dcf-eb63-4d4b-a35c-f122eaf78e98","type":"TumorSpecimen"},"issuedOn":"2024-10-04","results":{"tumorMorphology":{"id":"c78b0f6b-2166-4fc9-9265-046865915b7a","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"specimen":{"id":"5b0b2dcf-eb63-4d4b-a35c-f122eaf78e98","type":"TumorSpecimen"},"value":{"code":"8041/3","display":"Kleinzelliges Karzinom o.n.A.","system":"urn:oid:2.16.840.1.113883.6.43.1","version":"Zweite Revision"},"notes":"Notes..."},"tumorCellContent":{"id":"efa4382d-88dc-4029-b6fd-52fa51c6cf0c","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"specimen":{"id":"5b0b2dcf-eb63-4d4b-a35c-f122eaf78e98","type":"TumorSpecimen"},"method":{"code":"histologic","display":"Histologisch","system":"dnpm-dip/mtb/tumor-cell-content/method"},"value":0.26842690551874093}}}],"ihcReports":[{"id":"f474383a-01e2-435e-8541-99b12469ad1f","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"specimen":{"id":"5b0b2dcf-eb63-4d4b-a35c-f122eaf78e98","type":"TumorSpecimen"},"date":"2024-10-04","journalId":{"value":"c73f34d1-521a-40d4-ada1-b5e161ad91cd"},"blockId":{"value":"ce6e4bb8-b6dc-4d53-bfec-b3540321c28c"},"proteinExpressionResults":[{"id":"8e22ca65-3fc7-477b-8389-1b816a4a60eb","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"protein":{"code":"HGNC:6973","display":"MDM2","system":"https://www.genenames.org/"},"value":{"code":"exp","display":"Exprimiert","system":"dnpm-dip/mtb/ihc/protein-expression/result"},"tpsScore":70,"icScore":{"code":"0","display":"< 1%","system":"dnpm-dip/mtb/ihc/protein-expression/ic-score"},"tcScore":{"code":"1","display":">= 1%","system":"dnpm-dip/mtb/ihc/protein-expression/tc-score"}},{"id":"4c8b317c-9068-472c-8e5c-fdeebce10e0b","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"protein":{"code":"HGNC:21597","display":"ACAD10","system":"https://www.genenames.org/"},"value":{"code":"exp","display":"Exprimiert","system":"dnpm-dip/mtb/ihc/protein-expression/result"},"tpsScore":24,"icScore":{"code":"3","display":">= 10%","system":"dnpm-dip/mtb/ihc/protein-expression/ic-score"},"tcScore":{"code":"5","display":">= 50%","system":"dnpm-dip/mtb/ihc/protein-expression/tc-score"}},{"id":"dad779c3-1d18-4961-b988-ab1e211dccc9","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"protein":{"code":"HGNC:33","display":"ABCA3","system":"https://www.genenames.org/"},"value":{"code":"3+","display":"3+","system":"dnpm-dip/mtb/ihc/protein-expression/result"},"tpsScore":93,"icScore":{"code":"3","display":">= 10%","system":"dnpm-dip/mtb/ihc/protein-expression/ic-score"},"tcScore":{"code":"2","display":">= 5%","system":"dnpm-dip/mtb/ihc/protein-expression/tc-score"}},{"id":"1c1b8eb1-4862-43ef-8abd-4e12db4c3368","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"protein":{"code":"HGNC:3942","display":"MTOR","system":"https://www.genenames.org/"},"value":{"code":"1+","display":"1+","system":"dnpm-dip/mtb/ihc/protein-expression/result"},"tpsScore":24,"icScore":{"code":"3","display":">= 10%","system":"dnpm-dip/mtb/ihc/protein-expression/ic-score"},"tcScore":{"code":"5","display":">= 50%","system":"dnpm-dip/mtb/ihc/protein-expression/tc-score"}},{"id":"e75a5f5b-8a02-46d5-9a4d-2554e429260c","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"protein":{"code":"HGNC:6407","display":"KRAS","system":"https://www.genenames.org/"},"value":{"code":"unknown","display":"untersucht, kein Ergebnis","system":"dnpm-dip/mtb/ihc/protein-expression/result"},"tpsScore":60,"icScore":{"code":"3","display":">= 10%","system":"dnpm-dip/mtb/ihc/protein-expression/ic-score"},"tcScore":{"code":"4","display":">= 25%","system":"dnpm-dip/mtb/ihc/protein-expression/tc-score"}},{"id":"13a775d8-0a94-4dec-adfd-1b0d5328a3f2","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"protein":{"code":"HGNC:886","display":"ATRX","system":"https://www.genenames.org/"},"value":{"code":"3+","display":"3+","system":"dnpm-dip/mtb/ihc/protein-expression/result"},"tpsScore":15,"icScore":{"code":"2","display":">= 5%","system":"dnpm-dip/mtb/ihc/protein-expression/ic-score"},"tcScore":{"code":"0","display":"< 1%","system":"dnpm-dip/mtb/ihc/protein-expression/tc-score"}},{"id":"0b40fbcb-4c59-4b8d-98b5-e5266426fd29","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"protein":{"code":"HGNC:21597","display":"ACAD10","system":"https://www.genenames.org/"},"value":{"code":"1+","display":"1+","system":"dnpm-dip/mtb/ihc/protein-expression/result"},"tpsScore":62,"icScore":{"code":"3","display":">= 10%","system":"dnpm-dip/mtb/ihc/protein-expression/ic-score"},"tcScore":{"code":"5","display":">= 50%","system":"dnpm-dip/mtb/ihc/protein-expression/tc-score"}},{"id":"138ab28a-8202-47cf-a85e-14191d95068c","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"protein":{"code":"HGNC:1753","display":"CDH13","system":"https://www.genenames.org/"},"value":{"code":"unknown","display":"untersucht, kein Ergebnis","system":"dnpm-dip/mtb/ihc/protein-expression/result"},"tpsScore":58,"icScore":{"code":"0","display":"< 1%","system":"dnpm-dip/mtb/ihc/protein-expression/ic-score"},"tcScore":{"code":"3","display":">= 10%","system":"dnpm-dip/mtb/ihc/protein-expression/tc-score"}},{"id":"b790e76d-a81c-4635-a9bc-fc0559b7c6db","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"protein":{"code":"HGNC:5173","display":"HRAS","system":"https://www.genenames.org/"},"value":{"code":"unknown","display":"untersucht, kein Ergebnis","system":"dnpm-dip/mtb/ihc/protein-expression/result"},"tpsScore":81,"icScore":{"code":"0","display":"< 1%","system":"dnpm-dip/mtb/ihc/protein-expression/ic-score"},"tcScore":{"code":"0","display":"< 1%","system":"dnpm-dip/mtb/ihc/protein-expression/tc-score"}}],"msiMmrResults":[]}],"ngsReports":[{"id":"14c8ca64-d1bc-465f-9731-565eef40759f","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"specimen":{"id":"5b0b2dcf-eb63-4d4b-a35c-f122eaf78e98","type":"TumorSpecimen"},"issuedOn":"2024-10-04","sequencingType":{"code":"panel","display":"Panel","system":"dnpm-dip/ngs/sequencing-type"},"metadata":[{"kitType":"Kit Type","kitManufacturer":"Manufacturer","sequencer":"Sequencer","referenceGenome":"GRCh37","pipeline":"https://github.com/pipeline-project"}],"results":{"tumorCellContent":{"id":"68de40b8-d419-4868-8120-aa2d000d57fe","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"specimen":{"id":"5b0b2dcf-eb63-4d4b-a35c-f122eaf78e98","type":"TumorSpecimen"},"method":{"code":"bioinformatic","display":"Bioinformatisch","system":"dnpm-dip/mtb/tumor-cell-content/method"},"value":0.45632715952436054},"tmb":{"id":"daeff8ba-d8f5-408e-9f68-5acae26b4a29","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"specimen":{"id":"5b0b2dcf-eb63-4d4b-a35c-f122eaf78e98","type":"TumorSpecimen"},"value":{"value":5988,"unit":"Mutations per megabase"},"interpretation":{"code":"low","display":"Niedrig","system":"dnpm-dip/mtb/ngs/tmb/interpretation"}},"brcaness":{"id":"501e8e59-2b2c-4fef-a88a-e12c3590f267","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"specimen":{"id":"5b0b2dcf-eb63-4d4b-a35c-f122eaf78e98","type":"TumorSpecimen"},"value":0.5,"confidenceRange":{"min":0.4,"max":0.6}},"hrdScore":{"id":"fab57e93-164e-4d22-ad19-a2f9090a65ca","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"specimen":{"id":"5b0b2dcf-eb63-4d4b-a35c-f122eaf78e98","type":"TumorSpecimen"},"value":0.4917653154499865,"components":{"lst":0.4924320073228263,"loh":0.8646096083973743,"tai":0.26848448874070496},"interpretation":{"code":"high","display":"Hoch","system":"dnpm-dip/mtb/ngs/hrd-score/interpretation"}},"simpleVariants":[{"id":"0435aaf4-7ad9-45a0-a48f-ba6bf3020af6","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"externalIds":[{"value":"b3b6cb37-cd99-44e2-bbab-7e33ca8bc106","system":"https://www.ncbi.nlm.nih.gov/snp/"},{"value":"e720abc9-d93c-498a-af67-a05e5e3657e4","system":"https://cancer.sanger.ac.uk/cosmic"}],"chromosome":{"code":"chr4","display":"chr4","system":"chromosome"},"gene":{"code":"HGNC:18615","display":"BRAFP1","system":"https://www.genenames.org/"},"transcriptId":{"value":"f50ccee9-a429-47ef-a075-3b2a8d3ee0e3","system":"https://www.ensembl.org/index.html"},"position":{"start":135},"altAllele":"C","refAllele":"A","dnaChange":{"code":"c.135A>C","system":"https://hgvs-nomenclature.org"},"proteinChange":{"code":"p.Lys23_Val25del","system":"https://hgvs-nomenclature.org"},"readDepth":14,"allelicFrequency":0.5764837171157311,"interpretation":{"code":"0","display":"Not Applicable","system":"https://www.ncbi.nlm.nih.gov/clinvar/"}},{"id":"a565fcc6-ba47-4b9e-8989-73cf80d5a091","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"externalIds":[{"value":"fa86c8ad-836a-440c-a017-ec8878ff2df4","system":"https://www.ncbi.nlm.nih.gov/snp/"},{"value":"7b7f0f19-cea0-4e76-a2b7-c84625170c20","system":"https://cancer.sanger.ac.uk/cosmic"}],"chromosome":{"code":"chr7","display":"chr7","system":"chromosome"},"gene":{"code":"HGNC:3690","display":"FGFR3","system":"https://www.genenames.org/"},"transcriptId":{"value":"af36445b-45b8-4a0e-b190-7fe3448ef61e","system":"https://www.ensembl.org/index.html"},"position":{"start":216},"altAllele":"G","refAllele":"C","dnaChange":{"code":"c.216C>G","system":"https://hgvs-nomenclature.org"},"proteinChange":{"code":"p.Cys28_Lys29delinsTrp","system":"https://hgvs-nomenclature.org"},"readDepth":12,"allelicFrequency":0.027296041388138903,"interpretation":{"code":"5","display":"Pathogenic","system":"https://www.ncbi.nlm.nih.gov/clinvar/"}},{"id":"e8d24d18-0d00-4e3d-aa87-e4c143f3414f","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"externalIds":[{"value":"ad13c641-72a1-415a-a16a-df85beddc8a0","system":"https://www.ncbi.nlm.nih.gov/snp/"},{"value":"ece7f4f2-ffa8-4691-9431-6f5ea17ad7e0","system":"https://cancer.sanger.ac.uk/cosmic"}],"chromosome":{"code":"chr21","display":"chr21","system":"chromosome"},"gene":{"code":"HGNC:391","display":"AKT1","system":"https://www.genenames.org/"},"transcriptId":{"value":"4af79b0b-0297-45dd-960d-3d71d5095605","system":"https://www.ensembl.org/index.html"},"position":{"start":263},"altAllele":"T","refAllele":"C","dnaChange":{"code":"c.263C>T","system":"https://hgvs-nomenclature.org"},"proteinChange":{"code":"p.(His321Leufs*3)","system":"https://hgvs-nomenclature.org"},"readDepth":23,"allelicFrequency":0.5605853063470827,"interpretation":{"code":"3","display":"Uncertain significance","system":"https://www.ncbi.nlm.nih.gov/clinvar/"}},{"id":"bc922de3-9f3a-45ca-bb65-327637adad2c","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"externalIds":[{"value":"95482940-4ce3-47c5-bf87-e3a3406ece48","system":"https://www.ncbi.nlm.nih.gov/snp/"},{"value":"6b5e8dec-d1b3-4488-9567-a74568752973","system":"https://cancer.sanger.ac.uk/cosmic"}],"chromosome":{"code":"chr13","display":"chr13","system":"chromosome"},"gene":{"code":"HGNC:3942","display":"MTOR","system":"https://www.genenames.org/"},"transcriptId":{"value":"e06ca97e-db28-4842-b10e-e429454d5f6e","system":"https://www.ensembl.org/index.html"},"position":{"start":306},"altAllele":"T","refAllele":"C","dnaChange":{"code":"c.306C>T","system":"https://hgvs-nomenclature.org"},"proteinChange":{"code":"p.Val7del","system":"https://hgvs-nomenclature.org"},"readDepth":11,"allelicFrequency":0.8671249364824849,"interpretation":{"code":"2","display":"Likely benign","system":"https://www.ncbi.nlm.nih.gov/clinvar/"}},{"id":"9b80f4a6-62c8-466c-8cab-b282c64b6a56","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"externalIds":[{"value":"65afbc12-7e8e-431f-ad56-0d2c06ef81a4","system":"https://www.ncbi.nlm.nih.gov/snp/"},{"value":"23702fa3-af19-4865-9dba-74a9a87d4d2b","system":"https://cancer.sanger.ac.uk/cosmic"}],"chromosome":{"code":"chr3","display":"chr3","system":"chromosome"},"gene":{"code":"HGNC:3689","display":"FGFR2","system":"https://www.genenames.org/"},"transcriptId":{"value":"f6681bf6-b462-4d21-9761-f8f446236c41","system":"https://www.ensembl.org/index.html"},"position":{"start":559},"altAllele":"C","refAllele":"G","dnaChange":{"code":"c.559G>C","system":"https://hgvs-nomenclature.org"},"proteinChange":{"code":"p.His4_Gln5insAla","system":"https://hgvs-nomenclature.org"},"readDepth":23,"allelicFrequency":0.4346307492457141,"interpretation":{"code":"1","display":"Benign","system":"https://www.ncbi.nlm.nih.gov/clinvar/"}},{"id":"470f2d92-b63c-48f6-bc7e-06bb04c2c5a6","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"externalIds":[{"value":"39ce1a4c-3e16-449e-9bb7-f33fe7027c3c","system":"https://www.ncbi.nlm.nih.gov/snp/"},{"value":"985302a4-05a9-4a7c-8cfb-d82455a591d9","system":"https://cancer.sanger.ac.uk/cosmic"}],"chromosome":{"code":"chr5","display":"chr5","system":"chromosome"},"gene":{"code":"HGNC:25662","display":"AAGAB","system":"https://www.genenames.org/"},"transcriptId":{"value":"079bc933-21b6-49ee-9ec2-9119830e9088","system":"https://www.ensembl.org/index.html"},"position":{"start":104},"altAllele":"A","refAllele":"G","dnaChange":{"code":"c.104G>A","system":"https://hgvs-nomenclature.org"},"proteinChange":{"code":"p.Gly2_Met46del","system":"https://hgvs-nomenclature.org"},"readDepth":7,"allelicFrequency":0.8119583204958332,"interpretation":{"code":"3","display":"Uncertain significance","system":"https://www.ncbi.nlm.nih.gov/clinvar/"}}],"copyNumberVariants":[{"id":"360ef38a-93ae-4065-a5a5-52fb9867351b","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"chromosome":{"code":"chr17","display":"chr17","system":"chromosome"},"startRange":{"start":8931,"end":8973},"endRange":{"start":9869,"end":9919},"totalCopyNumber":1,"relativeCopyNumber":0.5649605052068669,"cnA":0.181737522054084,"cnB":0.25251009447291994,"reportedAffectedGenes":[{"code":"HGNC:21298","display":"AACS","system":"https://www.genenames.org/"},{"code":"HGNC:3942","display":"MTOR","system":"https://www.genenames.org/"},{"code":"HGNC:1100","display":"BRCA1","system":"https://www.genenames.org/"},{"code":"HGNC:76","display":"ABL1","system":"https://www.genenames.org/"},{"code":"HGNC:1777","display":"CDK6","system":"https://www.genenames.org/"},{"code":"HGNC:18615","display":"BRAFP1","system":"https://www.genenames.org/"},{"code":"HGNC:21597","display":"ACAD10","system":"https://www.genenames.org/"},{"code":"HGNC:9967","display":"RET","system":"https://www.genenames.org/"},{"code":"HGNC:25829","display":"ABRAXAS1","system":"https://www.genenames.org/"},{"code":"HGNC:34","display":"ABCA4","system":"https://www.genenames.org/"},{"code":"HGNC:11998","display":"TP53","system":"https://www.genenames.org/"},{"code":"HGNC:25662","display":"AAGAB","system":"https://www.genenames.org/"}],"reportedFocality":"partial q-arm","type":{"code":"loss","display":"Loss","system":"dnpm-dip/mtb/ngs-report/cnv/type"},"copyNumberNeutralLoH":[{"code":"HGNC:5173","display":"HRAS","system":"https://www.genenames.org/"},{"code":"HGNC:21298","display":"AACS","system":"https://www.genenames.org/"},{"code":"HGNC:3942","display":"MTOR","system":"https://www.genenames.org/"},{"code":"HGNC:18615","display":"BRAFP1","system":"https://www.genenames.org/"},{"code":"HGNC:9967","display":"RET","system":"https://www.genenames.org/"},{"code":"HGNC:886","display":"ATRX","system":"https://www.genenames.org/"}]},{"id":"cfa100e0-e2c6-4186-afd5-8b953cbc6e6a","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"chromosome":{"code":"chr9","display":"chr9","system":"chromosome"},"startRange":{"start":7204,"end":7246},"endRange":{"start":7944,"end":7994},"totalCopyNumber":6,"relativeCopyNumber":0.11669190577377175,"cnA":0.4990807626614612,"cnB":0.7582500688708399,"reportedAffectedGenes":[{"code":"HGNC:391","display":"AKT1","system":"https://www.genenames.org/"},{"code":"HGNC:33","display":"ABCA3","system":"https://www.genenames.org/"},{"code":"HGNC:1753","display":"CDH13","system":"https://www.genenames.org/"},{"code":"HGNC:3236","display":"EGFR","system":"https://www.genenames.org/"},{"code":"HGNC:21298","display":"AACS","system":"https://www.genenames.org/"},{"code":"HGNC:6407","display":"KRAS","system":"https://www.genenames.org/"},{"code":"HGNC:1100","display":"BRCA1","system":"https://www.genenames.org/"},{"code":"HGNC:1777","display":"CDK6","system":"https://www.genenames.org/"},{"code":"HGNC:21597","display":"ACAD10","system":"https://www.genenames.org/"},{"code":"HGNC:3690","display":"FGFR3","system":"https://www.genenames.org/"},{"code":"HGNC:18615","display":"BRAFP1","system":"https://www.genenames.org/"},{"code":"HGNC:6973","display":"MDM2","system":"https://www.genenames.org/"}],"reportedFocality":"partial q-arm","type":{"code":"high-level-gain","display":"High-level-gain","system":"dnpm-dip/mtb/ngs-report/cnv/type"},"copyNumberNeutralLoH":[{"code":"HGNC:34","display":"ABCA4","system":"https://www.genenames.org/"},{"code":"HGNC:5173","display":"HRAS","system":"https://www.genenames.org/"},{"code":"HGNC:6407","display":"KRAS","system":"https://www.genenames.org/"},{"code":"HGNC:1097","display":"BRAF","system":"https://www.genenames.org/"},{"code":"HGNC:1100","display":"BRCA1","system":"https://www.genenames.org/"},{"code":"HGNC:3689","display":"FGFR2","system":"https://www.genenames.org/"},{"code":"HGNC:9967","display":"RET","system":"https://www.genenames.org/"},{"code":"HGNC:11998","display":"TP53","system":"https://www.genenames.org/"},{"code":"HGNC:25662","display":"AAGAB","system":"https://www.genenames.org/"},{"code":"HGNC:3690","display":"FGFR3","system":"https://www.genenames.org/"},{"code":"HGNC:886","display":"ATRX","system":"https://www.genenames.org/"}]},{"id":"9773c575-520c-4dff-adaa-432c87bb7953","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"chromosome":{"code":"chr7","display":"chr7","system":"chromosome"},"startRange":{"start":18958,"end":19000},"endRange":{"start":19820,"end":19870},"totalCopyNumber":3,"relativeCopyNumber":0.2517812090424125,"cnA":0.9712193220276211,"cnB":0.6743349453830615,"reportedAffectedGenes":[{"code":"HGNC:1753","display":"CDH13","system":"https://www.genenames.org/"},{"code":"HGNC:34","display":"ABCA4","system":"https://www.genenames.org/"},{"code":"HGNC:21298","display":"AACS","system":"https://www.genenames.org/"},{"code":"HGNC:6407","display":"KRAS","system":"https://www.genenames.org/"},{"code":"HGNC:1097","display":"BRAF","system":"https://www.genenames.org/"},{"code":"HGNC:3689","display":"FGFR2","system":"https://www.genenames.org/"},{"code":"HGNC:18615","display":"BRAFP1","system":"https://www.genenames.org/"},{"code":"HGNC:11998","display":"TP53","system":"https://www.genenames.org/"},{"code":"HGNC:25662","display":"AAGAB","system":"https://www.genenames.org/"}],"reportedFocality":"partial q-arm","type":{"code":"low-level-gain","display":"Low-level-gain","system":"dnpm-dip/mtb/ngs-report/cnv/type"},"copyNumberNeutralLoH":[{"code":"HGNC:391","display":"AKT1","system":"https://www.genenames.org/"},{"code":"HGNC:33","display":"ABCA3","system":"https://www.genenames.org/"},{"code":"HGNC:5173","display":"HRAS","system":"https://www.genenames.org/"},{"code":"HGNC:3689","display":"FGFR2","system":"https://www.genenames.org/"},{"code":"HGNC:1777","display":"CDK6","system":"https://www.genenames.org/"},{"code":"HGNC:21597","display":"ACAD10","system":"https://www.genenames.org/"},{"code":"HGNC:9967","display":"RET","system":"https://www.genenames.org/"},{"code":"HGNC:25829","display":"ABRAXAS1","system":"https://www.genenames.org/"},{"code":"HGNC:34","display":"ABCA4","system":"https://www.genenames.org/"},{"code":"HGNC:11998","display":"TP53","system":"https://www.genenames.org/"},{"code":"HGNC:25662","display":"AAGAB","system":"https://www.genenames.org/"}]},{"id":"d60dc2ad-df89-47cf-8093-6d597909b503","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"chromosome":{"code":"chr7","display":"chr7","system":"chromosome"},"startRange":{"start":38855,"end":38897},"endRange":{"start":39562,"end":39612},"totalCopyNumber":4,"relativeCopyNumber":0.5403871491061567,"cnA":0.5926164774692199,"cnB":0.6448303699444321,"reportedAffectedGenes":[{"code":"HGNC:33","display":"ABCA3","system":"https://www.genenames.org/"},{"code":"HGNC:5173","display":"HRAS","system":"https://www.genenames.org/"},{"code":"HGNC:1097","display":"BRAF","system":"https://www.genenames.org/"},{"code":"HGNC:1100","display":"BRCA1","system":"https://www.genenames.org/"},{"code":"HGNC:3689","display":"FGFR2","system":"https://www.genenames.org/"},{"code":"HGNC:18615","display":"BRAFP1","system":"https://www.genenames.org/"},{"code":"HGNC:9967","display":"RET","system":"https://www.genenames.org/"},{"code":"HGNC:3690","display":"FGFR3","system":"https://www.genenames.org/"},{"code":"HGNC:3942","display":"MTOR","system":"https://www.genenames.org/"},{"code":"HGNC:6407","display":"KRAS","system":"https://www.genenames.org/"},{"code":"HGNC:11998","display":"TP53","system":"https://www.genenames.org/"},{"code":"HGNC:25662","display":"AAGAB","system":"https://www.genenames.org/"}],"reportedFocality":"partial q-arm","type":{"code":"high-level-gain","display":"High-level-gain","system":"dnpm-dip/mtb/ngs-report/cnv/type"},"copyNumberNeutralLoH":[{"code":"HGNC:21298","display":"AACS","system":"https://www.genenames.org/"},{"code":"HGNC:1097","display":"BRAF","system":"https://www.genenames.org/"},{"code":"HGNC:25662","display":"AAGAB","system":"https://www.genenames.org/"},{"code":"HGNC:21597","display":"ACAD10","system":"https://www.genenames.org/"},{"code":"HGNC:9967","display":"RET","system":"https://www.genenames.org/"}]},{"id":"e043bb12-0bfe-408b-be21-65874c2e99a1","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"chromosome":{"code":"chr10","display":"chr10","system":"chromosome"},"startRange":{"start":31942,"end":31984},"endRange":{"start":32019,"end":32069},"totalCopyNumber":7,"relativeCopyNumber":0.34391607465966023,"cnA":0.6989505095911057,"cnB":0.6582031473486337,"reportedAffectedGenes":[{"code":"HGNC:391","display":"AKT1","system":"https://www.genenames.org/"},{"code":"HGNC:9967","display":"RET","system":"https://www.genenames.org/"},{"code":"HGNC:1097","display":"BRAF","system":"https://www.genenames.org/"},{"code":"HGNC:886","display":"ATRX","system":"https://www.genenames.org/"}],"reportedFocality":"partial q-arm","type":{"code":"high-level-gain","display":"High-level-gain","system":"dnpm-dip/mtb/ngs-report/cnv/type"},"copyNumberNeutralLoH":[{"code":"HGNC:33","display":"ABCA3","system":"https://www.genenames.org/"},{"code":"HGNC:34","display":"ABCA4","system":"https://www.genenames.org/"},{"code":"HGNC:21298","display":"AACS","system":"https://www.genenames.org/"},{"code":"HGNC:3689","display":"FGFR2","system":"https://www.genenames.org/"},{"code":"HGNC:1777","display":"CDK6","system":"https://www.genenames.org/"}]},{"id":"27902dff-0822-4539-90e4-945bec354e7d","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"chromosome":{"code":"chr18","display":"chr18","system":"chromosome"},"startRange":{"start":18560,"end":18602},"endRange":{"start":19197,"end":19247},"totalCopyNumber":7,"relativeCopyNumber":0.027081891798721558,"cnA":0.5089921018429518,"cnB":0.4973323118934275,"reportedAffectedGenes":[{"code":"HGNC:6407","display":"KRAS","system":"https://www.genenames.org/"},{"code":"HGNC:3689","display":"FGFR2","system":"https://www.genenames.org/"},{"code":"HGNC:1777","display":"CDK6","system":"https://www.genenames.org/"},{"code":"HGNC:9967","display":"RET","system":"https://www.genenames.org/"},{"code":"HGNC:3690","display":"FGFR3","system":"https://www.genenames.org/"}],"reportedFocality":"partial q-arm","type":{"code":"high-level-gain","display":"High-level-gain","system":"dnpm-dip/mtb/ngs-report/cnv/type"},"copyNumberNeutralLoH":[{"code":"HGNC:3942","display":"MTOR","system":"https://www.genenames.org/"},{"code":"HGNC:18615","display":"BRAFP1","system":"https://www.genenames.org/"},{"code":"HGNC:9967","display":"RET","system":"https://www.genenames.org/"},{"code":"HGNC:25829","display":"ABRAXAS1","system":"https://www.genenames.org/"}]},{"id":"0dcc9485-910a-44c3-be5e-c5500cc7310f","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"chromosome":{"code":"chr20","display":"chr20","system":"chromosome"},"startRange":{"start":737,"end":779},"endRange":{"start":866,"end":916},"totalCopyNumber":2,"relativeCopyNumber":0.6761089955387692,"cnA":0.8821589267572477,"cnB":0.12591591122465506,"reportedAffectedGenes":[{"code":"HGNC:25829","display":"ABRAXAS1","system":"https://www.genenames.org/"},{"code":"HGNC:5173","display":"HRAS","system":"https://www.genenames.org/"},{"code":"HGNC:76","display":"ABL1","system":"https://www.genenames.org/"},{"code":"HGNC:21597","display":"ACAD10","system":"https://www.genenames.org/"},{"code":"HGNC:18615","display":"BRAFP1","system":"https://www.genenames.org/"},{"code":"HGNC:6973","display":"MDM2","system":"https://www.genenames.org/"}],"reportedFocality":"partial q-arm","type":{"code":"low-level-gain","display":"Low-level-gain","system":"dnpm-dip/mtb/ngs-report/cnv/type"},"copyNumberNeutralLoH":[{"code":"HGNC:5173","display":"HRAS","system":"https://www.genenames.org/"},{"code":"HGNC:76","display":"ABL1","system":"https://www.genenames.org/"},{"code":"HGNC:3942","display":"MTOR","system":"https://www.genenames.org/"}]},{"id":"72e8b44e-19c3-4ecf-9b15-3b657ee4faf9","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"chromosome":{"code":"chrX","display":"chrX","system":"chromosome"},"startRange":{"start":40461,"end":40503},"endRange":{"start":40663,"end":40713},"totalCopyNumber":7,"relativeCopyNumber":0.4591148858487596,"cnA":0.47008651149082725,"cnB":0.985329315544232,"reportedAffectedGenes":[{"code":"HGNC:391","display":"AKT1","system":"https://www.genenames.org/"},{"code":"HGNC:1753","display":"CDH13","system":"https://www.genenames.org/"},{"code":"HGNC:34","display":"ABCA4","system":"https://www.genenames.org/"},{"code":"HGNC:3236","display":"EGFR","system":"https://www.genenames.org/"},{"code":"HGNC:3942","display":"MTOR","system":"https://www.genenames.org/"},{"code":"HGNC:25662","display":"AAGAB","system":"https://www.genenames.org/"},{"code":"HGNC:3690","display":"FGFR3","system":"https://www.genenames.org/"},{"code":"HGNC:886","display":"ATRX","system":"https://www.genenames.org/"}],"reportedFocality":"partial q-arm","type":{"code":"high-level-gain","display":"High-level-gain","system":"dnpm-dip/mtb/ngs-report/cnv/type"},"copyNumberNeutralLoH":[{"code":"HGNC:1753","display":"CDH13","system":"https://www.genenames.org/"},{"code":"HGNC:25829","display":"ABRAXAS1","system":"https://www.genenames.org/"},{"code":"HGNC:3236","display":"EGFR","system":"https://www.genenames.org/"},{"code":"HGNC:5173","display":"HRAS","system":"https://www.genenames.org/"},{"code":"HGNC:3942","display":"MTOR","system":"https://www.genenames.org/"},{"code":"HGNC:1097","display":"BRAF","system":"https://www.genenames.org/"},{"code":"HGNC:18615","display":"BRAFP1","system":"https://www.genenames.org/"},{"code":"HGNC:9967","display":"RET","system":"https://www.genenames.org/"},{"code":"HGNC:886","display":"ATRX","system":"https://www.genenames.org/"}]}],"dnaFusions":[],"rnaFusions":[],"rnaSeqs":[]}}],"carePlans":[{"id":"8b76c655-c730-40fc-a0e0-9af55cfc2586","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"indication":{"id":"a717414b-5ee1-4755-a97e-d6802d8f4d88","display":"Sekundäre bösartige Neubildung der Harnblase sowie sonstiger und nicht näher bezeichneter Harnorgane","type":"MTBDiagnosis"},"issuedOn":"2024-10-04","statusReason":{"code":"no-target","display":"Keine Therapeutische Konsequenz","system":"dnpm-dip/mtb/careplan/status-reason"},"medicationRecommendations":[{"id":"1a7e0452-2e5b-46ea-8ff7-f57898571ae8","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"indication":{"id":"a717414b-5ee1-4755-a97e-d6802d8f4d88","display":"Sekundäre bösartige Neubildung der Harnblase sowie sonstiger und nicht näher bezeichneter Harnorgane","type":"MTBDiagnosis"},"issuedOn":"2024-10-04","levelOfEvidence":{"grading":{"code":"m2C","display":"m2C","system":"dnpm-dip/mtb/level-of-evidence/grading"},"addendums":[{"code":"Z","display":"Z","system":"dnpm-dip/mtb/level-of-evidence/addendum"}],"publications":[{"extId":{"value":"1956033092","system":"https://pubmed.ncbi.nlm.nih.gov/"},"type":"Publication"}]},"priority":{"code":"4","display":"4","system":"dnpm-dip/therapy-recommendation/priority"},"medication":[{"code":"L01XX69","display":"Lurbinectedin","system":"http://fhir.de/CodeSystem/bfarm/atc","version":"2024"}],"supportingVariants":[{"id":"e8d24d18-0d00-4e3d-aa87-e4c143f3414f","display":"SNV AKT1 p.(His321Leufs*3)","type":"Variant"}]}],"geneticCounselingRecommendation":{"id":"c79d06b0-ec02-4ea9-97d2-4d731a5808f2","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"issuedOn":"2024-10-04","reason":{"code":"secondary-tumor","display":"Zweittumor","system":"dnpm-dip/mtb/recommendation/genetic-counseling/reason"}},"studyEnrollmentRecommendations":[{"id":"cb4f7ca3-0097-4ac4-86bc-69c613548add","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"reason":{"id":"a717414b-5ee1-4755-a97e-d6802d8f4d88","display":"Sekundäre bösartige Neubildung der Harnblase sowie sonstiger und nicht näher bezeichneter Harnorgane","type":"MTBDiagnosis"},"issuedOn":"2024-10-04","levelOfEvidence":{"code":"m2C","display":"m2C","system":"dnpm-dip/mtb/level-of-evidence/grading"},"supportingVariants":[{"id":"e8d24d18-0d00-4e3d-aa87-e4c143f3414f","display":"SNV AKT1 p.(His321Leufs*3)","type":"Variant"}],"studies":[{"value":"NCT:37793114","system":"NCT"}]}],"notes":"Protocol of the MTB conference..."}],"claims":[{"id":"7866a797-08d2-4f05-9797-6f581450ee00","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"recommendation":{"id":"1a7e0452-2e5b-46ea-8ff7-f57898571ae8","type":"MTBMedicationRecommendation"},"issuedOn":"2024-10-04","stage":{"code":"revocation","display":"Widerspruch","system":"dnpm-dip/mtb/claim/stage"}}],"claimResponses":[{"id":"e9c74549-d256-44ea-bb08-4ff36d3062d4","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"claim":{"id":"7866a797-08d2-4f05-9797-6f581450ee00","type":"Claim"},"issuedOn":"2024-10-04","status":{"code":"accepted","display":"Angenommen","system":"dnpm-dip/mtb/claim-response/status"}}],"therapies":[{"history":[{"id":"8b37e804-8aa0-49b8-b53e-e7bac8614302","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"indication":{"id":"a717414b-5ee1-4755-a97e-d6802d8f4d88","display":"Sekundäre bösartige Neubildung der Harnblase sowie sonstiger und nicht näher bezeichneter Harnorgane","type":"MTBDiagnosis"},"basedOn":{"id":"1a7e0452-2e5b-46ea-8ff7-f57898571ae8","type":"MTBMedicationRecommendation"},"recordedOn":"2024-10-04","status":{"code":"on-going","display":"Laufend","system":"dnpm-dip/therapy/status"},"period":{"start":"2024-03-29","end":"2024-10-04"},"medication":[{"code":"L01XX69","display":"Lurbinectedin","system":"http://fhir.de/CodeSystem/bfarm/atc","version":"2024"}],"notes":"Notes on the therapy..."}]}],"responses":[{"id":"09f1a2d1-9cc3-4f5f-85d6-c700c462810a","patient":{"id":"51da738b-cb92-4b51-884a-2bc806988785","type":"Patient"},"therapy":{"id":"8b37e804-8aa0-49b8-b53e-e7bac8614302","type":"MTBMedicationTherapy"},"effectiveDate":"2024-07-12","value":{"code":"PD","display":"Progressive Disease","system":"RECIST"}}]} \ No newline at end of file