{ "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "gender": { "code": "male", "display": "Männlich", "system": "Gender" }, "birthDate": "1993-08-01", "healthInsurance": { "type": { "code": "GKV", "display": "gesetzliche Krankenversicherung", "system": "http://fhir.de/CodeSystem/versicherungsart-de-basis" }, "reference": { "id": "1234567890", "system": "https://www.dguv.de/arge-ik", "display": "AOK", "type": "HealthInsurance" } }, "address": { "municipalityCode": "12345" }, "age": { "value": 31, "unit": "Years" }, "vitalStatus": { "code": "alive", "display": "Lebend", "system": "dnpm-dip/patient/vital-status" } }, "episodesOfCare": [ { "id": "dc4d1b2c-7468-4a4a-8fbd-1b0bb645c082", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "period": { "start": "2024-11-30" }, "diagnoses": [ { "id": "53155bb3-39f8-4cd9-aa9b-1675165bfdb8", "type": "MTBDiagnosis" } ] } ], "diagnoses": [ { "id": "53155bb3-39f8-4cd9-aa9b-1675165bfdb8", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "recordedOn": "2022-09-01", "type": { "history": [ { "value": { "code": "main", "display": "Hauptdiagnose", "system": "dnpm-dip/mtb/diagnosis/type" }, "date": "2022-09-01" } ] }, "code": { "code": "C57.0", "display": "Bösartige Neubildung: Tuba uterina [Falloppio]", "system": "http://fhir.de/CodeSystem/bfarm/icd-10-gm", "version": "2025" }, "topography": { "code": "C57.0", "display": "Eileiter", "system": "urn:oid:2.16.840.1.113883.6.43.1", "version": "Zweite Revision" }, "grading": { "history": [ { "date": "2022-09-01", "codes": [ { "code": "4", "display": "4 = undifferenziert", "system": "https://www.basisdatensatz.de/feld/161/grading" }, { "code": "1", "display": "Pilocytic astrocytoma", "system": "dnpm-dip/mtb/who-grading-cns-tumors", "version": "2021" } ] } ] }, "staging": { "history": [ { "date": "2022-09-01", "method": { "code": "clinical", "display": "Klinisch", "system": "dnpm-dip/mtb/tumor-staging/method" }, "tnmClassification": { "tumor": { "code": "T1", "system": "UICC" }, "nodes": { "code": "N3", "system": "UICC" }, "metastasis": { "code": "M0", "system": "UICC" } }, "otherClassifications": [ { "code": "local", "display": "Lokal", "system": "dnpm-dip/mtb/diagnosis/kds-tumor-spread" } ] } ] }, "guidelineTreatmentStatus": { "code": "no-guidelines-available", "display": "Keine Leitlinien vorhanden", "system": "dnpm-dip/mtb/diagnosis/guideline-treatment-status" }, "notes": [ "Notes on the tumor diagnosis..." ] } ], "guidelineTherapies": [ { "id": "b63bcd3e-1bbb-425d-bd4f-03820036e249", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "reason": { "id": "53155bb3-39f8-4cd9-aa9b-1675165bfdb8", "display": "Bösartige Neubildung: Tuba uterina [Falloppio]", "type": "MTBDiagnosis" }, "therapyLine": 8, "intent": { "code": "X", "display": "Keine Angabe", "system": "dnpm-dip/therapy/intent" }, "category": { "code": "S", "display": "Sonstiges", "system": "dnpm-dip/therapy/category" }, "recordedOn": "2025-05-30", "status": { "code": "stopped", "display": "Abgebrochen", "system": "dnpm-dip/therapy/status" }, "statusReason": { "code": "progression", "display": "Progression", "system": "dnpm-dip/therapy/status-reason" }, "period": { "start": "2024-05-30", "end": "2024-08-22" }, "medication": [ { "code": "L01XX57", "display": "Plitidepsin", "system": "http://fhir.de/CodeSystem/bfarm/atc", "version": "2025" } ], "notes": [ "Notes on the therapy..." ] }, { "id": "d7de61c1-a5cc-429b-9c6f-e47765828f90", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "reason": { "id": "53155bb3-39f8-4cd9-aa9b-1675165bfdb8", "display": "Bösartige Neubildung: Tuba uterina [Falloppio]", "type": "MTBDiagnosis" }, "therapyLine": 5, "intent": { "code": "P", "display": "Palliativ", "system": "dnpm-dip/therapy/intent" }, "category": { "code": "S", "display": "Sonstiges", "system": "dnpm-dip/therapy/category" }, "recordedOn": "2025-05-30", "status": { "code": "stopped", "display": "Abgebrochen", "system": "dnpm-dip/therapy/status" }, "statusReason": { "code": "progression", "display": "Progression", "system": "dnpm-dip/therapy/status-reason" }, "period": { "start": "2024-02-29", "end": "2024-10-03" }, "medication": [ { "code": "L01XX29", "display": "Denileukindiftitox", "system": "http://fhir.de/CodeSystem/bfarm/atc", "version": "2025" } ], "notes": [ "Notes on the therapy..." ] } ], "guidelineProcedures": [ { "id": "960c989f-12f0-4592-96a8-fcb55938cd38", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "reason": { "id": "53155bb3-39f8-4cd9-aa9b-1675165bfdb8", "display": "Bösartige Neubildung: Tuba uterina [Falloppio]", "type": "MTBDiagnosis" }, "therapyLine": 3, "intent": { "code": "X", "display": "Keine Angabe", "system": "dnpm-dip/therapy/intent" }, "code": { "code": "surgery", "display": "OP", "system": "dnpm-dip/mtb/procedure/type" }, "status": { "code": "on-going", "display": "Laufend", "system": "dnpm-dip/therapy/status" }, "statusReason": { "code": "payment-pending", "display": "Kostenübernahme noch ausstehend", "system": "dnpm-dip/therapy/status-reason" }, "recordedOn": "2025-05-30", "period": { "start": "2024-11-30" }, "notes": [ "Notes on the therapeutic procedure..." ] } ], "performanceStatus": [ { "id": "2d5108a3-600c-4153-8600-0427ad00d8a9", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "effectiveDate": "2025-05-30", "value": { "code": "5", "display": "ECOG 5", "system": "ECOG-Performance-Status" } } ], "specimens": [ { "id": "c59253e3-3c11-40bd-bc35-7c089f734862", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "diagnosis": { "id": "53155bb3-39f8-4cd9-aa9b-1675165bfdb8", "type": "MTBDiagnosis" }, "type": { "code": "unknown", "display": "Unbekannt", "system": "dnpm-dip/mtb/tumor-specimen/type" }, "collection": { "date": "2025-05-30", "method": { "code": "unknown", "display": "Unbekannt", "system": "dnpm-dip/mtb/tumor-specimen/collection/method" }, "localization": { "code": "primary-tumor", "display": "Primärtumor", "system": "dnpm-dip/mtb/tumor-specimen/collection/localization" } } } ], "priorDiagnosticReports": [ { "id": "c02f0997-c43f-4da0-819e-d7ae7370d78d", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "performer": { "id": "xyz", "display": "Molekular-Pathologie UKx", "type": "Institute" }, "issuedOn": "2025-05-30", "specimen": { "id": "c59253e3-3c11-40bd-bc35-7c089f734862", "type": "TumorSpecimen" }, "type": { "code": "karyotyping", "display": "Karyotyping", "system": "dnpm-dip/mtb/molecular-diagnostics/type" }, "results": [ "Result of diagnostics..." ] } ], "histologyReports": [ { "id": "791de8a5-b766-42d5-9454-12fbfe25ad92", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "specimen": { "id": "c59253e3-3c11-40bd-bc35-7c089f734862", "type": "TumorSpecimen" }, "issuedOn": "2025-05-30", "results": { "tumorMorphology": { "id": "699db4c1-74a1-4c0f-bc20-275f85abfd20", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "specimen": { "id": "c59253e3-3c11-40bd-bc35-7c089f734862", "type": "TumorSpecimen" }, "value": { "code": "8891/0", "display": "Epitheloides Leiomyom", "system": "urn:oid:2.16.840.1.113883.6.43.1", "version": "Zweite Revision" }, "note": "Notes..." }, "tumorCellContent": { "id": "5c408779-8f1c-4c44-a3f1-0bee32a0b7f1", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "specimen": { "id": "c59253e3-3c11-40bd-bc35-7c089f734862", "type": "TumorSpecimen" }, "method": { "code": "histologic", "display": "Histologisch", "system": "dnpm-dip/mtb/tumor-cell-content/method" }, "value": 0.022777185931090127 } } } ], "ihcReports": [ { "id": "d913c59b-7788-4931-a24c-5a71995ee77b", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "specimen": { "id": "c59253e3-3c11-40bd-bc35-7c089f734862", "type": "TumorSpecimen" }, "issuedOn": "2025-05-30", "journalId": "7f39e2f3-6b0f-486d-b2d2-a1c8c4ec0493", "blockIds": [ "a91d53a8-7949-4233-b710-1f1b456ff8c7" ], "results": { "proteinExpression": [ { "id": "60538b11-9da7-4248-a878-00dbfe31cf37", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "protein": { "code": "HGNC:34", "display": "ABCA4", "system": "https://www.genenames.org/" }, "value": { "code": "2+", "display": "2+", "system": "dnpm-dip/mtb/ihc/protein-expression/result" }, "tpsScore": 15, "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": "32a8c01c-4bd7-4ae9-8835-6ba747fe1991", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "protein": { "code": "HGNC:886", "display": "ATRX", "system": "https://www.genenames.org/" }, "value": { "code": "not-exp", "display": "Nicht exprimiert", "system": "dnpm-dip/mtb/ihc/protein-expression/result" }, "tpsScore": 33, "icScore": { "code": "2", "display": ">= 5%", "system": "dnpm-dip/mtb/ihc/protein-expression/ic-score" }, "tcScore": { "code": "5", "display": ">= 50%", "system": "dnpm-dip/mtb/ihc/protein-expression/tc-score" } }, { "id": "edd1cb04-8c1a-49f7-bb88-36ee576ade21", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "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": 95, "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": "8e7f8610-2bab-4baa-9567-98a0c71eead4", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "protein": { "code": "HGNC:33", "display": "ABCA3", "system": "https://www.genenames.org/" }, "value": { "code": "not-exp", "display": "Nicht exprimiert", "system": "dnpm-dip/mtb/ihc/protein-expression/result" }, "tpsScore": 81, "icScore": { "code": "3", "display": ">= 10%", "system": "dnpm-dip/mtb/ihc/protein-expression/ic-score" }, "tcScore": { "code": "1", "display": ">= 1%", "system": "dnpm-dip/mtb/ihc/protein-expression/tc-score" } }, { "id": "845b905d-eef9-4a2c-9aff-cde382933968", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "protein": { "code": "HGNC:1100", "display": "BRCA1", "system": "https://www.genenames.org/" }, "value": { "code": "1+", "display": "1+", "system": "dnpm-dip/mtb/ihc/protein-expression/result" }, "tpsScore": 70, "icScore": { "code": "1", "display": ">= 1%", "system": "dnpm-dip/mtb/ihc/protein-expression/ic-score" }, "tcScore": { "code": "5", "display": ">= 50%", "system": "dnpm-dip/mtb/ihc/protein-expression/tc-score" } } ], "msiMmr": [] } } ], "ngsReports": [ { "id": "c21b5bdb-47e2-4579-a0d4-7bea8f12a1ae", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "specimen": { "id": "c59253e3-3c11-40bd-bc35-7c089f734862", "type": "TumorSpecimen" }, "issuedOn": "2025-05-30", "type": { "code": "single", "display": "Single", "system": "dnpm-dip/ngs/type" }, "metadata": [ { "kitType": "Kit Type", "kitManufacturer": "Manufacturer", "sequencer": "Sequencer", "referenceGenome": "HG38", "pipeline": "https://github.com/pipeline-project" } ], "results": { "tumorCellContent": { "id": "94927ed9-449d-4b20-b87b-8d30c3262cd8", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "specimen": { "id": "c59253e3-3c11-40bd-bc35-7c089f734862", "type": "TumorSpecimen" }, "method": { "code": "bioinformatic", "display": "Bioinformatisch", "system": "dnpm-dip/mtb/tumor-cell-content/method" }, "value": 0.09638668241172943 }, "tmb": { "id": "b50f37ba-684a-4456-baec-1b852506522e", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "specimen": { "id": "c59253e3-3c11-40bd-bc35-7c089f734862", "type": "TumorSpecimen" }, "value": { "value": 111701, "unit": "Mutations per megabase" }, "interpretation": { "code": "intermediate", "display": "Mittel", "system": "dnpm-dip/mtb/ngs/tmb/interpretation" } }, "brcaness": { "id": "ae6d8152-2ec0-46f3-bc96-a8cdb0354dff", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "specimen": { "id": "c59253e3-3c11-40bd-bc35-7c089f734862", "type": "TumorSpecimen" }, "value": 0.5, "confidenceRange": { "min": 0.4, "max": 0.6 } }, "hrdScore": { "id": "09b18803-9465-4cd0-8525-60d7aba52cda", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "specimen": { "id": "c59253e3-3c11-40bd-bc35-7c089f734862", "type": "TumorSpecimen" }, "value": 0.05766991221140638, "components": { "lst": 0.702408484465023, "loh": 0.9316758294159152, "tai": 0.27810914785699703 }, "interpretation": { "code": "high", "display": "Hoch", "system": "dnpm-dip/mtb/ngs/hrd-score/interpretation" } }, "simpleVariants": [ { "id": "d2209570-1391-4035-9365-765e707a7675", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "externalIds": [ { "value": "3ff51b45-bea4-4adf-a652-68e9a8eb9ba0", "system": "https://www.ncbi.nlm.nih.gov/snp" }, { "value": "d4ef6e0d-70f3-48af-9815-12add7d405fd", "system": "https://cancer.sanger.ac.uk/cosmic" } ], "chromosome": "chr4", "gene": { "code": "HGNC:18615", "display": "BRAFP1", "system": "https://www.genenames.org/" }, "localization": [ { "code": "intergenic", "display": "Intergenic", "system": "dnpm-dip/variant/localization" } ], "transcriptId": { "value": "b0819774-a371-4f25-898e-0e60971a3bba", "system": "https://www.ncbi.nlm.nih.gov/refseq" }, "exonId": "3", "position": { "start": 561 }, "altAllele": "T", "refAllele": "C", "dnaChange": "c.561C>T", "proteinChange": "p.Trp24=/Cys", "readDepth": 6, "allelicFrequency": 0.7168882236398768, "interpretation": { "code": "3", "display": "Uncertain significance", "system": "https://www.ncbi.nlm.nih.gov/clinvar" } }, { "id": "0d033c43-d69b-44b3-90f6-b816180829b5", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "externalIds": [ { "value": "e91b92ac-b721-4dfe-a5fc-d39ad54537c9", "system": "https://www.ncbi.nlm.nih.gov/snp" }, { "value": "3cc72402-f627-4bbf-9468-fbb566459d81", "system": "https://cancer.sanger.ac.uk/cosmic" } ], "chromosome": "chr17", "gene": { "code": "HGNC:3690", "display": "FGFR3", "system": "https://www.genenames.org/" }, "localization": [ { "code": "splicing-region", "display": "splicing region", "system": "dnpm-dip/variant/localization" } ], "transcriptId": { "value": "6512c902-f492-4951-a614-ff4801d2c308", "system": "https://www.ncbi.nlm.nih.gov/refseq" }, "exonId": "2", "position": { "start": 193 }, "altAllele": "A", "refAllele": "G", "dnaChange": "c.193G>A", "proteinChange": "p.Trp24=/Cys", "readDepth": 5, "allelicFrequency": 0.1081527557463462, "interpretation": { "code": "2", "display": "Likely benign", "system": "https://www.ncbi.nlm.nih.gov/clinvar" } }, { "id": "ea5a3264-8d84-4312-ba18-7de0da5a89b5", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "externalIds": [ { "value": "29ecbc7d-32bc-41ec-8654-4dbfb76a2333", "system": "https://www.ncbi.nlm.nih.gov/snp" }, { "value": "e14e1284-920c-429d-9893-8a027eee414c", "system": "https://cancer.sanger.ac.uk/cosmic" } ], "chromosome": "chr1", "gene": { "code": "HGNC:6407", "display": "KRAS", "system": "https://www.genenames.org/" }, "localization": [ { "code": "intergenic", "display": "Intergenic", "system": "dnpm-dip/variant/localization" } ], "transcriptId": { "value": "dd7b0cca-2707-4bf7-a361-37906e36a22c", "system": "https://www.ensembl.org" }, "exonId": "8", "position": { "start": 131 }, "altAllele": "G", "refAllele": "T", "dnaChange": "c.131T>G", "proteinChange": "p.His4_Gln5insAla", "readDepth": 24, "allelicFrequency": 0.7601485607234963, "interpretation": { "code": "5", "display": "Pathogenic", "system": "https://www.ncbi.nlm.nih.gov/clinvar" } }, { "id": "5feae8bd-710c-42b6-ba52-e9a33be957b7", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "externalIds": [ { "value": "45515482-873f-46ea-818e-9b2b4dd8d389", "system": "https://www.ncbi.nlm.nih.gov/snp" }, { "value": "c49c7e81-c34d-445e-804f-d110718752e1", "system": "https://cancer.sanger.ac.uk/cosmic" } ], "chromosome": "chr4", "gene": { "code": "HGNC:34", "display": "ABCA4", "system": "https://www.genenames.org/" }, "localization": [ { "code": "regulatory-region", "display": "Regulatory region", "system": "dnpm-dip/variant/localization" } ], "transcriptId": { "value": "90ed01ce-b09b-44db-87e5-f8b083664838", "system": "https://www.ncbi.nlm.nih.gov/refseq" }, "exonId": "2", "position": { "start": 445 }, "altAllele": "C", "refAllele": "A", "dnaChange": "c.445A>C", "proteinChange": "p.Gly2_Met46del", "readDepth": 15, "allelicFrequency": 0.42158645101228087, "interpretation": { "code": "4", "display": "Likely pathogenic", "system": "https://www.ncbi.nlm.nih.gov/clinvar" } }, { "id": "7748dd2f-e547-4412-996b-c8116040a5d4", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "externalIds": [ { "value": "5600f37a-7570-4177-8ca9-43f08f297c1b", "system": "https://www.ncbi.nlm.nih.gov/snp" }, { "value": "1c6569e0-a8e6-477a-956a-c95e04097143", "system": "https://cancer.sanger.ac.uk/cosmic" } ], "chromosome": "chr3", "gene": { "code": "HGNC:25829", "display": "ABRAXAS1", "system": "https://www.genenames.org/" }, "localization": [ { "code": "coding-region", "display": "Coding region", "system": "dnpm-dip/variant/localization" } ], "transcriptId": { "value": "e97218d5-8e07-4516-980b-9bc3a944f5ed", "system": "https://www.ensembl.org" }, "exonId": "3", "position": { "start": 52 }, "altAllele": "A", "refAllele": "T", "dnaChange": "c.52T>A", "proteinChange": "p.(Glu125_Ala132delinsGlyLeuHisArgPheIleValLeu)", "readDepth": 16, "allelicFrequency": 0.43914773954080655, "interpretation": { "code": "2", "display": "Likely benign", "system": "https://www.ncbi.nlm.nih.gov/clinvar" } }, { "id": "c6e4a8ca-9fd5-46d6-b9c3-4fb92fa3ad7f", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "externalIds": [ { "value": "414cfb9c-1a27-49f4-89a7-20fa9b34d4c1", "system": "https://www.ncbi.nlm.nih.gov/snp" }, { "value": "029491a2-a2ec-4153-8f58-0a0643b82c7f", "system": "https://cancer.sanger.ac.uk/cosmic" } ], "chromosome": "chr19", "gene": { "code": "HGNC:25829", "display": "ABRAXAS1", "system": "https://www.genenames.org/" }, "localization": [ { "code": "regulatory-region", "display": "Regulatory region", "system": "dnpm-dip/variant/localization" } ], "transcriptId": { "value": "12393377-f07e-468b-bb15-a5dd2498cd31", "system": "https://www.ensembl.org" }, "exonId": "10", "position": { "start": 77 }, "altAllele": "G", "refAllele": "C", "dnaChange": "c.77C>G", "proteinChange": "p.Lys23_Val25del", "readDepth": 23, "allelicFrequency": 0.7263541136743669, "interpretation": { "code": "1", "display": "Benign", "system": "https://www.ncbi.nlm.nih.gov/clinvar" } } ], "copyNumberVariants": [ { "id": "def11b75-84d6-4910-8f0a-e289326fa14c", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "chromosome": "chr17", "localization": [ { "code": "intronic", "display": "Intronic", "system": "dnpm-dip/variant/localization" } ], "startRange": { "start": 49051, "end": 49093 }, "endRange": { "start": 49114, "end": 49164 }, "totalCopyNumber": 4, "relativeCopyNumber": 0.951841616210335, "cnA": 0.4819056712797626, "cnB": 0.6266734124941649, "reportedAffectedGenes": [ { "code": "HGNC:33", "display": "ABCA3", "system": "https://www.genenames.org/" }, { "code": "HGNC:5173", "display": "HRAS", "system": "https://www.genenames.org/" }, { "code": "HGNC:25662", "display": "AAGAB", "system": "https://www.genenames.org/" }, { "code": "HGNC:76", "display": "ABL1", "system": "https://www.genenames.org/" }, { "code": "HGNC:886", "display": "ATRX", "system": "https://www.genenames.org/" }, { "code": "HGNC:9967", "display": "RET", "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:3942", "display": "MTOR", "system": "https://www.genenames.org/" }, { "code": "HGNC:3236", "display": "EGFR", "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:5173", "display": "HRAS", "system": "https://www.genenames.org/" }, { "code": "HGNC:1753", "display": "CDH13", "system": "https://www.genenames.org/" }, { "code": "HGNC:1777", "display": "CDK6", "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:1100", "display": "BRCA1", "system": "https://www.genenames.org/" }, { "code": "HGNC:9967", "display": "RET", "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/" } ] }, { "id": "a8702d47-5520-458e-929f-fdd2bc55fe17", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "chromosome": "chr22", "localization": [ { "code": "intergenic", "display": "Intergenic", "system": "dnpm-dip/variant/localization" } ], "startRange": { "start": 48141, "end": 48183 }, "endRange": { "start": 48711, "end": 48761 }, "totalCopyNumber": 2, "relativeCopyNumber": 0.5067539649405646, "cnA": 0.9335404521608939, "cnB": 0.04708321769922241, "reportedAffectedGenes": [ { "code": "HGNC:3690", "display": "FGFR3", "system": "https://www.genenames.org/" }, { "code": "HGNC:1097", "display": "BRAF", "system": "https://www.genenames.org/" }, { "code": "HGNC:76", "display": "ABL1", "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:21298", "display": "AACS", "system": "https://www.genenames.org/" }, { "code": "HGNC:3236", "display": "EGFR", "system": "https://www.genenames.org/" }, { "code": "HGNC:21597", "display": "ACAD10", "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:33", "display": "ABCA3", "system": "https://www.genenames.org/" }, { "code": "HGNC:11998", "display": "TP53", "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/" }, { "code": "HGNC:391", "display": "AKT1", "system": "https://www.genenames.org/" }, { "code": "HGNC:3689", "display": "FGFR2", "system": "https://www.genenames.org/" }, { "code": "HGNC:3236", "display": "EGFR", "system": "https://www.genenames.org/" }, { "code": "HGNC:18615", "display": "BRAFP1", "system": "https://www.genenames.org/" }, { "code": "HGNC:6407", "display": "KRAS", "system": "https://www.genenames.org/" } ] }, { "id": "e459c5b6-16ab-45ad-be8e-588a466fa42e", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "chromosome": "chr22", "localization": [ { "code": "regulatory-region", "display": "Regulatory region", "system": "dnpm-dip/variant/localization" } ], "startRange": { "start": 10844, "end": 10886 }, "endRange": { "start": 11502, "end": 11552 }, "totalCopyNumber": 3, "relativeCopyNumber": 0.18257424389770927, "cnA": 0.6677514703429981, "cnB": 0.03993481724373449, "reportedAffectedGenes": [ { "code": "HGNC:33", "display": "ABCA3", "system": "https://www.genenames.org/" }, { "code": "HGNC:886", "display": "ATRX", "system": "https://www.genenames.org/" }, { "code": "HGNC:6407", "display": "KRAS", "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:33", "display": "ABCA3", "system": "https://www.genenames.org/" }, { "code": "HGNC:1753", "display": "CDH13", "system": "https://www.genenames.org/" }, { "code": "HGNC:1100", "display": "BRCA1", "system": "https://www.genenames.org/" }, { "code": "HGNC:886", "display": "ATRX", "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:3236", "display": "EGFR", "system": "https://www.genenames.org/" }, { "code": "HGNC:6407", "display": "KRAS", "system": "https://www.genenames.org/" } ] }, { "id": "6050ca03-a0ae-4da7-87b8-76cac7dffa8d", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "chromosome": "chr22", "localization": [ { "code": "splicing-region", "display": "splicing region", "system": "dnpm-dip/variant/localization" } ], "startRange": { "start": 29573, "end": 29615 }, "endRange": { "start": 30148, "end": 30198 }, "totalCopyNumber": 5, "relativeCopyNumber": 0.3733910734264396, "cnA": 0.4299750761842057, "cnB": 0.20874476574745604, "reportedAffectedGenes": [ { "code": "HGNC:33", "display": "ABCA3", "system": "https://www.genenames.org/" }, { "code": "HGNC:11998", "display": "TP53", "system": "https://www.genenames.org/" }, { "code": "HGNC:5173", "display": "HRAS", "system": "https://www.genenames.org/" }, { "code": "HGNC:25829", "display": "ABRAXAS1", "system": "https://www.genenames.org/" }, { "code": "HGNC:6973", "display": "MDM2", "system": "https://www.genenames.org/" }, { "code": "HGNC:1753", "display": "CDH13", "system": "https://www.genenames.org/" }, { "code": "HGNC:25662", "display": "AAGAB", "system": "https://www.genenames.org/" }, { "code": "HGNC:76", "display": "ABL1", "system": "https://www.genenames.org/" }, { "code": "HGNC:3689", "display": "FGFR2", "system": "https://www.genenames.org/" }, { "code": "HGNC:6407", "display": "KRAS", "system": "https://www.genenames.org/" }, { "code": "HGNC:34", "display": "ABCA4", "system": "https://www.genenames.org/" }, { "code": "HGNC:3942", "display": "MTOR", "system": "https://www.genenames.org/" }, { "code": "HGNC:3236", "display": "EGFR", "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:11998", "display": "TP53", "system": "https://www.genenames.org/" }, { "code": "HGNC:6973", "display": "MDM2", "system": "https://www.genenames.org/" }, { "code": "HGNC:1753", "display": "CDH13", "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:21597", "display": "ACAD10", "system": "https://www.genenames.org/" } ] } ], "dnaFusions": [ { "id": "1901fef1-f341-49cd-80b3-80af8f6f7bea", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "localization": [ { "code": "splicing-region", "display": "splicing region", "system": "dnpm-dip/variant/localization" } ], "fusionPartner5prime": { "chromosome": "chr9", "gene": { "code": "HGNC:21597", "display": "ACAD10", "system": "https://www.genenames.org/" }, "position": 968 }, "fusionPartner3prime": { "chromosome": "chrX", "gene": { "code": "HGNC:6407", "display": "KRAS", "system": "https://www.genenames.org/" }, "position": 61 }, "reportedNumReads": 7 }, { "id": "12ca0894-8fe6-4243-aed7-d630df490cac", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "localization": [ { "code": "splicing-region", "display": "splicing region", "system": "dnpm-dip/variant/localization" } ], "fusionPartner5prime": { "chromosome": "chr20", "gene": { "code": "HGNC:18615", "display": "BRAFP1", "system": "https://www.genenames.org/" }, "position": 462 }, "fusionPartner3prime": { "chromosome": "chr3", "gene": { "code": "HGNC:3942", "display": "MTOR", "system": "https://www.genenames.org/" }, "position": 984 }, "reportedNumReads": 5 }, { "id": "17335f8f-1ac4-43a7-9fdf-5574d8390bf5", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "localization": [ { "code": "intronic", "display": "Intronic", "system": "dnpm-dip/variant/localization" } ], "fusionPartner5prime": { "chromosome": "chr21", "gene": { "code": "HGNC:1100", "display": "BRCA1", "system": "https://www.genenames.org/" }, "position": 930 }, "fusionPartner3prime": { "chromosome": "chr14", "gene": { "code": "HGNC:76", "display": "ABL1", "system": "https://www.genenames.org/" }, "position": 896 }, "reportedNumReads": 7 }, { "id": "a6acd3bb-127b-44f6-8331-dc4b2488ed38", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "localization": [ { "code": "splicing-region", "display": "splicing region", "system": "dnpm-dip/variant/localization" } ], "fusionPartner5prime": { "chromosome": "chr8", "gene": { "code": "HGNC:1097", "display": "BRAF", "system": "https://www.genenames.org/" }, "position": 460 }, "fusionPartner3prime": { "chromosome": "chr19", "gene": { "code": "HGNC:3236", "display": "EGFR", "system": "https://www.genenames.org/" }, "position": 577 }, "reportedNumReads": 9 }, { "id": "4705fb0d-d429-47d6-8191-c07d06d16c7a", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "localization": [ { "code": "regulatory-region", "display": "Regulatory region", "system": "dnpm-dip/variant/localization" } ], "fusionPartner5prime": { "chromosome": "chr19", "gene": { "code": "HGNC:25662", "display": "AAGAB", "system": "https://www.genenames.org/" }, "position": 270 }, "fusionPartner3prime": { "chromosome": "chr5", "gene": { "code": "HGNC:21298", "display": "AACS", "system": "https://www.genenames.org/" }, "position": 124 }, "reportedNumReads": 3 }, { "id": "9df78e1b-5126-4e72-9d3b-09ddc0fc4d0c", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "localization": [ { "code": "intronic", "display": "Intronic", "system": "dnpm-dip/variant/localization" } ], "fusionPartner5prime": { "chromosome": "chr9", "gene": { "code": "HGNC:25829", "display": "ABRAXAS1", "system": "https://www.genenames.org/" }, "position": 658 }, "fusionPartner3prime": { "chromosome": "chr1", "gene": { "code": "HGNC:25829", "display": "ABRAXAS1", "system": "https://www.genenames.org/" }, "position": 805 }, "reportedNumReads": 7 }, { "id": "60c7636c-7207-4dbd-bf1f-35fba21137b5", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "localization": [ { "code": "coding-region", "display": "Coding region", "system": "dnpm-dip/variant/localization" } ], "fusionPartner5prime": { "chromosome": "chr11", "gene": { "code": "HGNC:3689", "display": "FGFR2", "system": "https://www.genenames.org/" }, "position": 146 }, "fusionPartner3prime": { "chromosome": "chr13", "gene": { "code": "HGNC:886", "display": "ATRX", "system": "https://www.genenames.org/" }, "position": 521 }, "reportedNumReads": 5 }, { "id": "ade9cd16-516a-4725-b803-51402b8913b2", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "localization": [ { "code": "intergenic", "display": "Intergenic", "system": "dnpm-dip/variant/localization" } ], "fusionPartner5prime": { "chromosome": "chr13", "gene": { "code": "HGNC:3689", "display": "FGFR2", "system": "https://www.genenames.org/" }, "position": 555 }, "fusionPartner3prime": { "chromosome": "chrY", "gene": { "code": "HGNC:3690", "display": "FGFR3", "system": "https://www.genenames.org/" }, "position": 510 }, "reportedNumReads": 9 } ], "rnaFusions": [ { "id": "1da6ea65-074a-4850-b2a5-d6c014ba34ec", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "externalIds": [ { "value": "675d80ec-d50b-44ad-8669-a10323550d5a", "system": "https://cancer.sanger.ac.uk/cosmic" } ], "localization": [ { "code": "intergenic", "display": "Intergenic", "system": "dnpm-dip/variant/localization" } ], "fusionPartner5prime": { "transcriptId": { "value": "63338877-2207-459b-9700-15bb3794fef4", "system": "https://www.ncbi.nlm.nih.gov/refseq" }, "exonId": "5", "gene": { "code": "HGNC:25829", "display": "ABRAXAS1", "system": "https://www.genenames.org/" }, "position": 844, "strand": "-" }, "fusionPartner3prime": { "transcriptId": { "value": "1f43ad86-86f4-4f7c-bc47-893e8ec15584", "system": "https://www.ncbi.nlm.nih.gov/refseq" }, "exonId": "8", "gene": { "code": "HGNC:25662", "display": "AAGAB", "system": "https://www.genenames.org/" }, "position": 280, "strand": "-" }, "effect": "Effect", "reportedNumReads": 6 }, { "id": "78aaf57f-5e75-47f5-b2ce-284a45f15df3", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "externalIds": [ { "value": "2ac1b8c8-47ec-4465-86c0-0252c9c77fba", "system": "https://cancer.sanger.ac.uk/cosmic" } ], "localization": [ { "code": "coding-region", "display": "Coding region", "system": "dnpm-dip/variant/localization" } ], "fusionPartner5prime": { "transcriptId": { "value": "c05b0d75-918a-4cde-8ad3-1e72ed88c04c", "system": "https://www.ensembl.org" }, "exonId": "10", "gene": { "code": "HGNC:21298", "display": "AACS", "system": "https://www.genenames.org/" }, "position": 837, "strand": "-" }, "fusionPartner3prime": { "transcriptId": { "value": "4e21b4fc-81fb-4e79-a7a7-cff1c9e428ca", "system": "https://www.ensembl.org" }, "exonId": "11", "gene": { "code": "HGNC:3689", "display": "FGFR2", "system": "https://www.genenames.org/" }, "position": 167, "strand": "-" }, "effect": "Effect", "reportedNumReads": 3 }, { "id": "85ae18ea-3c4b-4990-a983-4d8cdfbc9987", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "externalIds": [ { "value": "3eaec2c4-3a36-466c-9462-46bfd9238c27", "system": "https://cancer.sanger.ac.uk/cosmic" } ], "localization": [ { "code": "splicing-region", "display": "splicing region", "system": "dnpm-dip/variant/localization" } ], "fusionPartner5prime": { "transcriptId": { "value": "6b4b1249-f90d-4971-85d7-444d39e220eb", "system": "https://www.ncbi.nlm.nih.gov/refseq" }, "exonId": "2", "gene": { "code": "HGNC:6973", "display": "MDM2", "system": "https://www.genenames.org/" }, "position": 252, "strand": "-" }, "fusionPartner3prime": { "transcriptId": { "value": "67beabf6-e37e-400b-8861-2706e40e63d0", "system": "https://www.ensembl.org" }, "exonId": "6", "gene": { "code": "HGNC:3690", "display": "FGFR3", "system": "https://www.genenames.org/" }, "position": 755, "strand": "-" }, "effect": "Effect", "reportedNumReads": 3 }, { "id": "33f12136-e588-4fdb-9a00-d54fd045a8ae", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "externalIds": [ { "value": "f7c89ee5-77fb-40eb-8542-916111cf8b68", "system": "https://cancer.sanger.ac.uk/cosmic" } ], "localization": [ { "code": "intergenic", "display": "Intergenic", "system": "dnpm-dip/variant/localization" } ], "fusionPartner5prime": { "transcriptId": { "value": "3a84500a-fbdc-4086-b38e-b7e3454a61a7", "system": "https://www.ncbi.nlm.nih.gov/refseq" }, "exonId": "5", "gene": { "code": "HGNC:3689", "display": "FGFR2", "system": "https://www.genenames.org/" }, "position": 902, "strand": "-" }, "fusionPartner3prime": { "transcriptId": { "value": "30c64920-c400-407b-93b5-3bbd8ba3f255", "system": "https://www.ensembl.org" }, "exonId": "7", "gene": { "code": "HGNC:21298", "display": "AACS", "system": "https://www.genenames.org/" }, "position": 254, "strand": "+" }, "effect": "Effect", "reportedNumReads": 3 }, { "id": "f53c79bf-72e0-4e92-a1fe-b91017602828", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "externalIds": [ { "value": "5b988b8f-54a7-43b7-a001-0feaf31fcfef", "system": "https://cancer.sanger.ac.uk/cosmic" } ], "localization": [ { "code": "regulatory-region", "display": "Regulatory region", "system": "dnpm-dip/variant/localization" } ], "fusionPartner5prime": { "transcriptId": { "value": "41d8e247-25d3-426b-b3f7-fddf5cdb558c", "system": "https://www.ensembl.org" }, "exonId": "7", "gene": { "code": "HGNC:3236", "display": "EGFR", "system": "https://www.genenames.org/" }, "position": 376, "strand": "+" }, "fusionPartner3prime": { "transcriptId": { "value": "5ec975b9-d2f1-4717-82bd-c7ce4dd2734c", "system": "https://www.ncbi.nlm.nih.gov/refseq" }, "exonId": "10", "gene": { "code": "HGNC:1100", "display": "BRCA1", "system": "https://www.genenames.org/" }, "position": 356, "strand": "-" }, "effect": "Effect", "reportedNumReads": 4 }, { "id": "7a5955a4-c7d4-4fe8-a529-0a0c01b84743", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "externalIds": [ { "value": "032e1ac6-e21f-4311-98a6-ad6a19ee7b35", "system": "https://cancer.sanger.ac.uk/cosmic" } ], "localization": [ { "code": "intergenic", "display": "Intergenic", "system": "dnpm-dip/variant/localization" } ], "fusionPartner5prime": { "transcriptId": { "value": "6e43eb94-48ca-41e2-a57e-bf964c1d953a", "system": "https://www.ncbi.nlm.nih.gov/refseq" }, "exonId": "5", "gene": { "code": "HGNC:391", "display": "AKT1", "system": "https://www.genenames.org/" }, "position": 714, "strand": "-" }, "fusionPartner3prime": { "transcriptId": { "value": "91fb4eaf-c3da-434b-991b-cbaeee330de2", "system": "https://www.ncbi.nlm.nih.gov/refseq" }, "exonId": "11", "gene": { "code": "HGNC:34", "display": "ABCA4", "system": "https://www.genenames.org/" }, "position": 357, "strand": "-" }, "effect": "Effect", "reportedNumReads": 4 } ], "rnaSeqs": [] } } ], "carePlans": [ { "id": "01b19e31-f38b-4b69-bb72-01248bb92d11", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "reason": { "id": "53155bb3-39f8-4cd9-aa9b-1675165bfdb8", "display": "Bösartige Neubildung: Tuba uterina [Falloppio]", "type": "MTBDiagnosis" }, "issuedOn": "2025-05-30", "geneticCounselingRecommendation": { "id": "f75d972c-f6be-4be9-bd2a-aeef0d492072", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "issuedOn": "2025-05-30", "reason": { "code": "other", "display": "Andere", "system": "dnpm-dip/mtb/recommendation/genetic-counseling/reason" } }, "medicationRecommendations": [ { "id": "8c9e7e7f-daea-4b7b-ad72-6ef6be070f95", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "reason": { "id": "53155bb3-39f8-4cd9-aa9b-1675165bfdb8", "display": "Bösartige Neubildung: Tuba uterina [Falloppio]", "type": "MTBDiagnosis" }, "issuedOn": "2025-05-30", "priority": { "code": "1", "display": "1", "system": "dnpm-dip/recommendation/priority" }, "levelOfEvidence": { "grading": { "code": "m2A", "display": "m2A", "system": "dnpm-dip/mtb/level-of-evidence/grading" }, "addendums": [ { "code": "iv", "display": "iv", "system": "dnpm-dip/mtb/level-of-evidence/addendum" } ], "publications": [ { "id": "482370142", "system": "https://pubmed.ncbi.nlm.nih.gov", "type": "Publication" } ] }, "category": { "code": "HO", "display": "Hormontherapie", "system": "dnpm-dip/mtb/recommendation/systemic-therapy/category" }, "medication": [ { "code": "L01EX01", "display": "Sunitinib", "system": "http://fhir.de/CodeSystem/bfarm/atc", "version": "2025" } ], "useType": { "code": "in-label", "display": "In-label Use", "system": "dnpm-dip/mtb/recommendation/systemic-therapy/use-type" }, "supportingVariants": [ { "variant": { "id": "4705fb0d-d429-47d6-8191-c07d06d16c7a", "type": "Variant" }, "gene": { "code": "HGNC:25662", "display": "AAGAB", "system": "https://www.genenames.org/" } } ] }, { "id": "5adb8293-f9d1-4e65-bdcf-9d4803bd9d1c", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "reason": { "id": "53155bb3-39f8-4cd9-aa9b-1675165bfdb8", "display": "Bösartige Neubildung: Tuba uterina [Falloppio]", "type": "MTBDiagnosis" }, "issuedOn": "2025-05-30", "priority": { "code": "2", "display": "2", "system": "dnpm-dip/recommendation/priority" }, "levelOfEvidence": { "grading": { "code": "m4", "display": "m4", "system": "dnpm-dip/mtb/level-of-evidence/grading" }, "addendums": [ { "code": "iv", "display": "iv", "system": "dnpm-dip/mtb/level-of-evidence/addendum" } ], "publications": [ { "id": "1987640662", "system": "https://pubmed.ncbi.nlm.nih.gov", "type": "Publication" } ] }, "category": { "code": "HO", "display": "Hormontherapie", "system": "dnpm-dip/mtb/recommendation/systemic-therapy/category" }, "medication": [ { "code": "L01FX01", "display": "Edrecolomab", "system": "http://fhir.de/CodeSystem/bfarm/atc", "version": "2025" } ], "useType": { "code": "sec-preventive", "display": "Sec-preventive", "system": "dnpm-dip/mtb/recommendation/systemic-therapy/use-type" }, "supportingVariants": [ { "variant": { "id": "c6e4a8ca-9fd5-46d6-b9c3-4fb92fa3ad7f", "type": "Variant" }, "gene": { "code": "HGNC:25829", "display": "ABRAXAS1", "system": "https://www.genenames.org/" } } ] } ], "procedureRecommendations": [ { "id": "7c51af31-3e47-467b-aee6-87a6aee9068a", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "reason": { "id": "53155bb3-39f8-4cd9-aa9b-1675165bfdb8", "display": "Bösartige Neubildung: Tuba uterina [Falloppio]", "type": "MTBDiagnosis" }, "issuedOn": "2025-05-30", "priority": { "code": "1", "display": "1", "system": "dnpm-dip/recommendation/priority" }, "levelOfEvidence": { "grading": { "code": "m1A", "display": "m1A", "system": "dnpm-dip/mtb/level-of-evidence/grading" }, "addendums": [ { "code": "iv", "display": "iv", "system": "dnpm-dip/mtb/level-of-evidence/addendum" } ], "publications": [ { "id": "45577081", "system": "https://pubmed.ncbi.nlm.nih.gov", "type": "Publication" } ] }, "code": { "code": "WS", "display": "Wait and see", "system": "dnpm-dip/mtb/recommendation/procedure/category" }, "supportingVariants": [ { "variant": { "id": "7748dd2f-e547-4412-996b-c8116040a5d4", "type": "Variant" }, "gene": { "code": "HGNC:25829", "display": "ABRAXAS1", "system": "https://www.genenames.org/" } } ] } ], "studyEnrollmentRecommendations": [ { "id": "3d4c243c-2908-46b7-9faf-d795fd883ac0", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "reason": { "id": "53155bb3-39f8-4cd9-aa9b-1675165bfdb8", "display": "Bösartige Neubildung: Tuba uterina [Falloppio]", "type": "MTBDiagnosis" }, "issuedOn": "2025-05-30", "levelOfEvidence": { "grading": { "code": "m2A", "display": "m2A", "system": "dnpm-dip/mtb/level-of-evidence/grading" }, "addendums": [ { "code": "iv", "display": "iv", "system": "dnpm-dip/mtb/level-of-evidence/addendum" } ], "publications": [ { "id": "482370142", "system": "https://pubmed.ncbi.nlm.nih.gov", "type": "Publication" } ] }, "priority": { "code": "4", "display": "4", "system": "dnpm-dip/recommendation/priority" }, "study": [ { "id": "8547-845744-34-56", "system": "Eudra-CT", "type": "Study" } ], "supportingVariants": [ { "variant": { "id": "4705fb0d-d429-47d6-8191-c07d06d16c7a", "type": "Variant" }, "gene": { "code": "HGNC:25662", "display": "AAGAB", "system": "https://www.genenames.org/" } } ] } ], "histologyReevaluationRequests": [ { "id": "a641f201-fa1e-4650-8fba-adf3665040ed", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "specimen": { "id": "c59253e3-3c11-40bd-bc35-7c089f734862", "type": "TumorSpecimen" }, "issuedOn": "2025-05-30" } ], "rebiopsyRequests": [ { "id": "2501cd78-c360-40c1-9ced-455fa7172191", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "tumorEntity": { "id": "53155bb3-39f8-4cd9-aa9b-1675165bfdb8", "type": "MTBDiagnosis" }, "issuedOn": "2025-05-30" } ], "notes": [ "Protocol of the MTB conference..." ] } ], "followUps": [ { "date": "2025-02-07", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "lastContactDate": "2025-02-07" } ], "claims": [ { "id": "4aa57f09-d47a-4916-852e-c79175a0eca7", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "recommendation": { "id": "8c9e7e7f-daea-4b7b-ad72-6ef6be070f95", "type": "MTBMedicationRecommendation" }, "issuedOn": "2025-05-30", "stage": { "code": "revocation", "display": "Widerspruch", "system": "dnpm-dip/mtb/claim/stage" } }, { "id": "fa9b668c-c39d-42a9-bdb2-410bc3f4a361", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "recommendation": { "id": "5adb8293-f9d1-4e65-bdcf-9d4803bd9d1c", "type": "MTBMedicationRecommendation" }, "issuedOn": "2025-05-30", "stage": { "code": "initial-claim", "display": "Erstantrag", "system": "dnpm-dip/mtb/claim/stage" } } ], "claimResponses": [ { "id": "db18a72a-293e-4f2d-bfe5-273776f8286b", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "claim": { "id": "4aa57f09-d47a-4916-852e-c79175a0eca7", "type": "Claim" }, "issuedOn": "2025-05-30", "status": { "code": "accepted", "display": "Angenommen", "system": "dnpm-dip/mtb/claim-response/status" } }, { "id": "ff5f495e-20c6-4c18-b150-4799343049c4", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "claim": { "id": "fa9b668c-c39d-42a9-bdb2-410bc3f4a361", "type": "Claim" }, "issuedOn": "2025-05-30", "status": { "code": "accepted", "display": "Angenommen", "system": "dnpm-dip/mtb/claim-response/status" } } ], "systemicTherapies": [ { "history": [ { "id": "bc0b340d-17ea-4598-ad69-38d309e47182", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "reason": { "id": "53155bb3-39f8-4cd9-aa9b-1675165bfdb8", "display": "Bösartige Neubildung: Tuba uterina [Falloppio]", "type": "MTBDiagnosis" }, "intent": { "code": "X", "display": "Keine Angabe", "system": "dnpm-dip/therapy/intent" }, "category": { "code": "N", "display": "Neoadjuvant", "system": "dnpm-dip/therapy/category" }, "basedOn": { "id": "8c9e7e7f-daea-4b7b-ad72-6ef6be070f95", "type": "MTBMedicationRecommendation" }, "recordedOn": "2025-05-30", "status": { "code": "on-going", "display": "Laufend", "system": "dnpm-dip/therapy/status" }, "recommendationFulfillmentStatus": { "code": "partial", "display": "Partiell", "system": "dnpm-dip/therapy/recommendation-fulfillment-status" }, "dosage": { "code": "under-50%", "display": "< 50 %", "system": "dnpm-dip/therapy/dosage-density" }, "period": { "start": "2024-11-08", "end": "2025-05-30" }, "medication": [ { "code": "L01EX01", "display": "Sunitinib", "system": "http://fhir.de/CodeSystem/bfarm/atc", "version": "2025" } ], "notes": [ "Notes on the therapy..." ] } ] }, { "history": [ { "id": "e3d4b435-0531-4d75-827c-0da914f054dd", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "reason": { "id": "53155bb3-39f8-4cd9-aa9b-1675165bfdb8", "display": "Bösartige Neubildung: Tuba uterina [Falloppio]", "type": "MTBDiagnosis" }, "intent": { "code": "K", "display": "Kurativ", "system": "dnpm-dip/therapy/intent" }, "category": { "code": "A", "display": "Adjuvant", "system": "dnpm-dip/therapy/category" }, "basedOn": { "id": "5adb8293-f9d1-4e65-bdcf-9d4803bd9d1c", "type": "MTBMedicationRecommendation" }, "recordedOn": "2025-05-30", "status": { "code": "completed", "display": "Abgeschlossen", "system": "dnpm-dip/therapy/status" }, "recommendationFulfillmentStatus": { "code": "complete", "display": "Komplett", "system": "dnpm-dip/therapy/recommendation-fulfillment-status" }, "dosage": { "code": "over-50%", "display": ">= 50 %", "system": "dnpm-dip/therapy/dosage-density" }, "period": { "start": "2024-10-25", "end": "2025-05-30" }, "medication": [ { "code": "L01FX01", "display": "Edrecolomab", "system": "http://fhir.de/CodeSystem/bfarm/atc", "version": "2025" } ], "notes": [ "Notes on the therapy..." ] } ] } ], "responses": [ { "id": "1bcd9695-739f-451b-a403-7def6fa43614", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "therapy": { "id": "bc0b340d-17ea-4598-ad69-38d309e47182", "type": "MTBSystemicTherapy" }, "effectiveDate": "2025-02-07", "method": { "code": "RANO", "display": "Nach RANO-Kriterien", "system": "dnpm-dip/mtb/response/method" }, "value": { "code": "PR", "display": "Partial Response", "system": "RECIST" } }, { "id": "89f6c606-0ec6-4b1e-a316-56a16eb52ea2", "patient": { "id": "e14bf9b6-7982-4933-a648-cfdea6484f1c", "type": "Patient" }, "therapy": { "id": "e3d4b435-0531-4d75-827c-0da914f054dd", "type": "MTBSystemicTherapy" }, "effectiveDate": "2024-12-27", "method": { "code": "RECIST", "display": "Nach RECIST-Kriterien", "system": "dnpm-dip/mtb/response/method" }, "value": { "code": "SD", "display": "Stable Disease", "system": "RECIST" } } ] }