diff --git a/src/lib.rs b/src/lib.rs index 5be76f1..3c79374 100644 --- a/src/lib.rs +++ b/src/lib.rs @@ -66,9 +66,7 @@ impl Mtb { ngs_reports: None, ihc_reports: None, patient: Patient { - address: Address { - municipality_code: String::new(), - }, + address: None, age: None, birth_date: String::new(), date_of_death: None, @@ -81,7 +79,7 @@ impl Mtb { id: patient_id.to_string(), health_insurance: HealthInsurance { health_insurance_type: HealthInsuranceCoding { - code: HealthInsuranceCodingCode::Bei, + code: HealthInsuranceCodingCode::Unk, display: None, system: None, version: None, diff --git a/src/mtb.rs b/src/mtb.rs index 92ddddd..08b1757 100644 --- a/src/mtb.rs +++ b/src/mtb.rs @@ -1709,6 +1709,8 @@ pub enum MvhSubmissionType { Followup, Initial, + + Test, } #[derive(Debug, Serialize, Deserialize)] @@ -2471,7 +2473,8 @@ pub enum NgsReportCodingCode { #[serde(deny_unknown_fields)] #[serde(rename_all = "camelCase")] pub struct Patient { - pub address: Address, + #[serde(skip_serializing_if = "Option::is_none")] + pub address: Option
, #[serde(skip_serializing_if = "Option::is_none")] pub age: Option, diff --git a/tests/mv64e-mtb-fake-patient.json b/tests/mv64e-mtb-fake-patient.json index 43fc2ef..0cef375 100644 --- a/tests/mv64e-mtb-fake-patient.json +++ b/tests/mv64e-mtb-fake-patient.json @@ -1,13 +1,13 @@ { "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "gender": { "code": "female", "display": "Weiblich", "system": "Gender" }, - "birthDate": "1962-10-21", - "dateOfDeath": "2009-10-21", + "birthDate": "1983-11-26", + "dateOfDeath": "2010-11-26", "healthInsurance": { "type": { "code": "GKV", @@ -25,7 +25,7 @@ "municipalityCode": "12345" }, "age": { - "value": 47, + "value": 27, "unit": "Years" }, "vitalStatus": { @@ -36,17 +36,17 @@ }, "episodesOfCare": [ { - "id": "d8b68856-3ba2-4d43-9653-6924897f5eab", + "id": "7b512517-1904-4efa-9b13-4295e84c8ae1", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, "period": { - "start": "2025-01-09" + "start": "2025-02-19" }, "diagnoses": [ { - "id": "19de7fac-c8db-4936-b8fe-c47acda6599b", + "id": "ca45ee75-b6fb-4194-acd7-4197c96ba819", "type": "MTBDiagnosis" } ] @@ -54,12 +54,12 @@ ], "diagnoses": [ { - "id": "19de7fac-c8db-4936-b8fe-c47acda6599b", + "id": "ca45ee75-b6fb-4194-acd7-4197c96ba819", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, - "recordedOn": "2007-10-21", + "recordedOn": "2008-04-26", "type": { "history": [ { @@ -68,35 +68,35 @@ "display": "Hauptdiagnose", "system": "dnpm-dip/mtb/diagnosis/type" }, - "date": "2007-10-21" + "date": "2008-04-26" } ] }, "code": { - "code": "C72.5", - "display": "Bösartige Neubildung: Sonstige und nicht näher bezeichnete Hirnnerven", + "code": "C24.9", + "display": "Bösartige Neubildung: Gallenwege, nicht näher bezeichnet", "system": "http://fhir.de/CodeSystem/bfarm/icd-10-gm", "version": "2025" }, "topography": { - "code": "C72.5", - "display": "Hirnnerven o.n.A.", + "code": "C24.9", + "display": "Gallenwege o.n.A.", "system": "urn:oid:2.16.840.1.113883.6.43.1", "version": "Zweite Revision" }, "grading": { "history": [ { - "date": "2007-10-21", + "date": "2008-04-26", "codes": [ { - "code": "3", - "display": "3 = schlecht differenziert", + "code": "T", + "display": "T = trifft nicht zu", "system": "https://www.basisdatensatz.de/feld/161/grading" }, { - "code": "3", - "display": "Anaplastic astrocytoma", + "code": "4", + "display": "Glioblastoma", "system": "dnpm-dip/mtb/who-grading-cns-tumors", "version": "2021" } @@ -107,7 +107,7 @@ "staging": { "history": [ { - "date": "2007-10-21", + "date": "2008-04-26", "method": { "code": "clinical", "display": "Klinisch", @@ -115,15 +115,15 @@ }, "tnmClassification": { "tumor": { - "code": "T0", + "code": "T2", "system": "UICC" }, "nodes": { - "code": "Nx", + "code": "N0", "system": "UICC" }, "metastasis": { - "code": "M0", + "code": "M1", "system": "UICC" } }, @@ -149,9 +149,9 @@ ], "familyMemberHistories": [ { - "id": "0eac775e-ea13-49d4-a390-a5e99744ac6b", + "id": "82b89124-4e3d-435c-b253-9c0c01771b55", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, "relationship": { @@ -163,28 +163,28 @@ ], "guidelineTherapies": [ { - "id": "af77fcc8-bcdc-41fb-9989-c4ad2fd9ce3c", + "id": "53147d60-256e-4ea5-a07e-ea0847963240", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, "reason": { - "id": "19de7fac-c8db-4936-b8fe-c47acda6599b", - "display": "Bösartige Neubildung: Sonstige und nicht näher bezeichnete Hirnnerven", + "id": "ca45ee75-b6fb-4194-acd7-4197c96ba819", + "display": "Bösartige Neubildung: Gallenwege, nicht näher bezeichnet", "type": "MTBDiagnosis" }, - "therapyLine": 8, + "therapyLine": 5, "intent": { "code": "X", "display": "Keine Angabe", "system": "dnpm-dip/therapy/intent" }, "category": { - "code": "A", - "display": "Adjuvant", + "code": "S", + "display": "Sonstiges", "system": "dnpm-dip/therapy/category" }, - "recordedOn": "2025-07-09", + "recordedOn": "2025-08-19", "status": { "code": "stopped", "display": "Abgebrochen", @@ -196,8 +196,57 @@ "system": "dnpm-dip/therapy/status-reason" }, "period": { - "start": "2024-03-09", - "end": "2024-08-10" + "start": "2023-11-19", + "end": "2024-02-18" + }, + "medication": [ + { + "code": "L01FX34", + "display": "Odronextamab", + "system": "http://fhir.de/CodeSystem/bfarm/atc", + "version": "2025" + } + ], + "notes": [ + "Notes on the therapy..." + ] + }, + { + "id": "e5c57cbc-57e2-4ac6-a28f-c778e7365293", + "patient": { + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", + "type": "Patient" + }, + "reason": { + "id": "ca45ee75-b6fb-4194-acd7-4197c96ba819", + "display": "Bösartige Neubildung: Gallenwege, nicht näher bezeichnet", + "type": "MTBDiagnosis" + }, + "therapyLine": 6, + "intent": { + "code": "K", + "display": "Kurativ", + "system": "dnpm-dip/therapy/intent" + }, + "category": { + "code": "S", + "display": "Sonstiges", + "system": "dnpm-dip/therapy/category" + }, + "recordedOn": "2025-08-19", + "status": { + "code": "stopped", + "display": "Abgebrochen", + "system": "dnpm-dip/therapy/status" + }, + "statusReason": { + "code": "progression", + "display": "Progression", + "system": "dnpm-dip/therapy/status-reason" + }, + "period": { + "start": "2023-10-19", + "end": "2024-05-09" }, "medication": [ { @@ -210,93 +259,84 @@ "notes": [ "Notes on the therapy..." ] - }, + } + ], + "guidelineProcedures": [ { - "id": "f922939a-926e-4319-90e7-488ed9027d6d", + "id": "edd079e7-e774-4d73-ae6c-0aa020209de8", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, "reason": { - "id": "19de7fac-c8db-4936-b8fe-c47acda6599b", - "display": "Bösartige Neubildung: Sonstige und nicht näher bezeichnete Hirnnerven", + "id": "ca45ee75-b6fb-4194-acd7-4197c96ba819", + "display": "Bösartige Neubildung: Gallenwege, nicht näher bezeichnet", "type": "MTBDiagnosis" }, - "therapyLine": 5, + "therapyLine": 7, "intent": { - "code": "X", - "display": "Keine Angabe", + "code": "K", + "display": "Kurativ", "system": "dnpm-dip/therapy/intent" }, - "category": { - "code": "I", - "display": "Intraopterativ", - "system": "dnpm-dip/therapy/category" + "code": { + "code": "nuclear-medicine", + "display": "Nuklearmedizinische Therapie", + "system": "dnpm-dip/mtb/procedure/type" }, - "recordedOn": "2025-07-09", "status": { "code": "stopped", "display": "Abgebrochen", "system": "dnpm-dip/therapy/status" }, "statusReason": { - "code": "progression", - "display": "Progression", + "code": "toxicity", + "display": "Toxizität", "system": "dnpm-dip/therapy/status-reason" }, + "recordedOn": "2025-08-19", "period": { - "start": "2024-04-09", - "end": "2024-09-10" + "start": "2025-02-19" }, - "medication": [ - { - "code": "L01EG01", - "display": "Temsirolimus", - "system": "http://fhir.de/CodeSystem/bfarm/atc", - "version": "2025" - } - ], "notes": [ - "Notes on the therapy..." + "Notes on the therapeutic procedure..." ] - } - ], - "guidelineProcedures": [ + }, { - "id": "b6d5bd15-356d-468a-a816-5fd955fc51a2", + "id": "28f4c210-4ed0-4d04-b86d-56846a9d7d03", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, "reason": { - "id": "19de7fac-c8db-4936-b8fe-c47acda6599b", - "display": "Bösartige Neubildung: Sonstige und nicht näher bezeichnete Hirnnerven", + "id": "ca45ee75-b6fb-4194-acd7-4197c96ba819", + "display": "Bösartige Neubildung: Gallenwege, nicht näher bezeichnet", "type": "MTBDiagnosis" }, - "therapyLine": 2, + "therapyLine": 5, "intent": { - "code": "X", - "display": "Keine Angabe", + "code": "P", + "display": "Palliativ", "system": "dnpm-dip/therapy/intent" }, "code": { - "code": "radio-therapy", - "display": "Strahlen-Therapie", + "code": "surgery", + "display": "OP", "system": "dnpm-dip/mtb/procedure/type" }, "status": { - "code": "on-going", - "display": "Laufend", + "code": "completed", + "display": "Abgeschlossen", "system": "dnpm-dip/therapy/status" }, "statusReason": { - "code": "regular-completion-with-substance-change", - "display": "Reguläres Ende mit Substanzwechsel", + "code": "medical-reasons", + "display": "Medizinische Gründe", "system": "dnpm-dip/therapy/status-reason" }, - "recordedOn": "2025-07-09", + "recordedOn": "2025-08-19", "period": { - "start": "2025-01-09" + "start": "2025-02-19" }, "notes": [ "Notes on the therapeutic procedure..." @@ -305,28 +345,28 @@ ], "performanceStatus": [ { - "id": "279b4954-7901-4b0b-89f3-1f90b12bcc02", + "id": "d16d5132-aaa5-4dfb-8a2a-51502699e427", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, - "effectiveDate": "2025-07-09", + "effectiveDate": "2025-08-19", "value": { - "code": "3", - "display": "ECOG 3", + "code": "1", + "display": "ECOG 1", "system": "ECOG-Performance-Status" } } ], "specimens": [ { - "id": "c479b60d-c3e4-44d4-b0e5-c5891dd460ed", + "id": "f9c2810b-19e7-4236-98bd-a8687be994e3", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, "diagnosis": { - "id": "19de7fac-c8db-4936-b8fe-c47acda6599b", + "id": "ca45ee75-b6fb-4194-acd7-4197c96ba819", "type": "MTBDiagnosis" }, "type": { @@ -335,15 +375,15 @@ "system": "dnpm-dip/mtb/tumor-specimen/type" }, "collection": { - "date": "2025-07-09", + "date": "2025-08-19", "method": { - "code": "biopsy", - "display": "Biopsie", + "code": "cytology", + "display": "Zytologie", "system": "dnpm-dip/mtb/tumor-specimen/collection/method" }, "localization": { - "code": "local-recurrence", - "display": "Lokalrezidiv", + "code": "metastasis", + "display": "Metastase", "system": "dnpm-dip/mtb/tumor-specimen/collection/localization" } } @@ -351,9 +391,9 @@ ], "priorDiagnosticReports": [ { - "id": "a7f20f97-c9ea-424d-add6-605dc2461782", + "id": "308f6210-bbbb-4803-9412-bc245391879d", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, "performer": { @@ -361,14 +401,14 @@ "display": "Molekular-Pathologie UKx", "type": "Institute" }, - "issuedOn": "2025-07-09", + "issuedOn": "2025-08-19", "specimen": { - "id": "c479b60d-c3e4-44d4-b0e5-c5891dd460ed", + "id": "f9c2810b-19e7-4236-98bd-a8687be994e3", "type": "TumorSpecimen" }, "type": { - "code": "fusion-panel", - "display": "Fusionspanel", + "code": "karyotyping", + "display": "Karyotyping", "system": "dnpm-dip/mtb/molecular-diagnostics/type" }, "results": [ @@ -378,43 +418,43 @@ ], "histologyReports": [ { - "id": "d57816b6-18b5-485d-9d7f-fc31004c429e", + "id": "de735f37-2c88-451a-a84c-9e7aa330d555", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, "specimen": { - "id": "c479b60d-c3e4-44d4-b0e5-c5891dd460ed", + "id": "f9c2810b-19e7-4236-98bd-a8687be994e3", "type": "TumorSpecimen" }, - "issuedOn": "2025-07-09", + "issuedOn": "2025-08-19", "results": { "tumorMorphology": { - "id": "21f1d157-6f40-4127-9b2f-91f32fedceb0", + "id": "ff69e7c7-106e-4494-aa8e-f09122d525d1", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, "specimen": { - "id": "c479b60d-c3e4-44d4-b0e5-c5891dd460ed", + "id": "f9c2810b-19e7-4236-98bd-a8687be994e3", "type": "TumorSpecimen" }, "value": { - "code": "9542/3", - "display": "Epitheloider maligner peripherer Nervenscheidentumor", + "code": "9702/1", + "display": "Indolente T-Zell-lymphoproliferative Krankheit des Gastrointestinaltraktes", "system": "urn:oid:2.16.840.1.113883.6.43.1", "version": "Zweite Revision" }, "note": "Notes..." }, "tumorCellContent": { - "id": "81a42ef1-f9fe-4dfe-a876-cf1a262ca4ce", + "id": "fec1a4d1-0bba-4c7c-8e17-bc59c0de7f12", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, "specimen": { - "id": "c479b60d-c3e4-44d4-b0e5-c5891dd460ed", + "id": "f9c2810b-19e7-4236-98bd-a8687be994e3", "type": "TumorSpecimen" }, "method": { @@ -422,118 +462,34 @@ "display": "Histologisch", "system": "dnpm-dip/mtb/tumor-cell-content/method" }, - "value": 0.12624946426974026 + "value": 0.9055861214418794 } } } ], "ihcReports": [ { - "id": "2046a862-66e0-4402-bb93-b64ce179d014", + "id": "833f35c8-2b3d-44a0-8504-2f8e2070863d", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, "specimen": { - "id": "c479b60d-c3e4-44d4-b0e5-c5891dd460ed", + "id": "f9c2810b-19e7-4236-98bd-a8687be994e3", "type": "TumorSpecimen" }, - "issuedOn": "2025-07-09", + "issuedOn": "2025-08-19", "results": { "proteinExpression": [ { - "id": "15d628bb-6e6a-435f-98dd-8bbc2f0311d1", + "id": "6e51d5db-38dd-4498-ad6b-11f1d53ed92c", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "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": 42, - "icScore": { - "code": "1", - "display": ">= 1%", - "system": "dnpm-dip/mtb/ihc/protein-expression/ic-score" - }, - "tcScore": { - "code": "4", - "display": ">= 25%", - "system": "dnpm-dip/mtb/ihc/protein-expression/tc-score" - } - }, - { - "id": "a7af8f99-b917-4498-8c95-f09818906de2", - "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", - "type": "Patient" - }, - "protein": { - "code": "HGNC:391", - "display": "AKT1", - "system": "https://www.genenames.org/" - }, - "value": { - "code": "1+", - "display": "1+", - "system": "dnpm-dip/mtb/ihc/protein-expression/result" - }, - "tpsScore": 90, - "icScore": { - "code": "0", - "display": "< 1%", - "system": "dnpm-dip/mtb/ihc/protein-expression/ic-score" - }, - "tcScore": { - "code": "4", - "display": ">= 25%", - "system": "dnpm-dip/mtb/ihc/protein-expression/tc-score" - } - }, - { - "id": "ea2d53e1-9a52-4fb2-87fd-b8b9acfb4017", - "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", - "type": "Patient" - }, - "protein": { - "code": "HGNC:21298", - "display": "AACS", - "system": "https://www.genenames.org/" - }, - "value": { - "code": "1+", - "display": "1+", - "system": "dnpm-dip/mtb/ihc/protein-expression/result" - }, - "tpsScore": 41, - "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": "b0794bbd-6e4e-442f-bfcf-cf2558ae3069", - "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", - "type": "Patient" - }, - "protein": { - "code": "HGNC:21597", - "display": "ACAD10", + "code": "HGNC:6973", + "display": "MDM2", "system": "https://www.genenames.org/" }, "value": { @@ -541,10 +497,38 @@ "display": "untersucht, kein Ergebnis", "system": "dnpm-dip/mtb/ihc/protein-expression/result" }, - "tpsScore": 83, + "tpsScore": 73, "icScore": { - "code": "1", - "display": ">= 1%", + "code": "0", + "display": "< 1%", + "system": "dnpm-dip/mtb/ihc/protein-expression/ic-score" + }, + "tcScore": { + "code": "6", + "display": ">= 75%", + "system": "dnpm-dip/mtb/ihc/protein-expression/tc-score" + } + }, + { + "id": "e9488b58-c5b2-4147-bf07-e94af06355ee", + "patient": { + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", + "type": "Patient" + }, + "protein": { + "code": "HGNC:18615", + "display": "BRAFP1", + "system": "https://www.genenames.org/" + }, + "value": { + "code": "3+", + "display": "3+", + "system": "dnpm-dip/mtb/ihc/protein-expression/result" + }, + "tpsScore": 79, + "icScore": { + "code": "0", + "display": "< 1%", "system": "dnpm-dip/mtb/ihc/protein-expression/ic-score" }, "tcScore": { @@ -552,6 +536,62 @@ "display": ">= 50%", "system": "dnpm-dip/mtb/ihc/protein-expression/tc-score" } + }, + { + "id": "c764012e-b2ba-46ac-a3d3-5c523ff2c9ef", + "patient": { + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", + "type": "Patient" + }, + "protein": { + "code": "HGNC:1753", + "display": "CDH13", + "system": "https://www.genenames.org/" + }, + "value": { + "code": "not-exp", + "display": "Nicht exprimiert", + "system": "dnpm-dip/mtb/ihc/protein-expression/result" + }, + "tpsScore": 97, + "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": 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"startRange": { - "start": 784, - "end": 826 + "start": 25560, + "end": 25602 }, "endRange": { - "start": 1163, - "end": 1213 + "start": 25854, + "end": 25904 }, - "totalCopyNumber": 7, - "relativeCopyNumber": 0.5881569243593987, - "cnA": 0.8272442044751694, - "cnB": 0.07961294501228111, + "totalCopyNumber": 6, + "relativeCopyNumber": 0.48704866276913383, + "cnA": 0.5313337230004179, + "cnB": 0.5746842045209957, "reportedAffectedGenes": [ { "code": "HGNC:11998", @@ -946,18 +1558,8 @@ "system": "https://www.genenames.org/" }, { - "code": "HGNC:1777", - "display": "CDK6", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:34", - "display": "ABCA4", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:18615", - "display": "BRAFP1", + "code": "HGNC:6407", + "display": "KRAS", "system": "https://www.genenames.org/" }, { @@ -971,18 +1573,18 @@ "system": "https://www.genenames.org/" }, { - "code": "HGNC:9967", - "display": "RET", + "code": "HGNC:34", + "display": "ABCA4", "system": "https://www.genenames.org/" }, { - "code": "HGNC:21298", - "display": "AACS", + "code": "HGNC:3236", + "display": "EGFR", "system": "https://www.genenames.org/" }, { - "code": "HGNC:3689", - "display": "FGFR2", + "code": "HGNC:21597", + "display": "ACAD10", "system": "https://www.genenames.org/" } ], @@ -1004,8 +1606,92 @@ "system": "https://www.genenames.org/" }, { - "code": "HGNC:1753", - "display": "CDH13", + "code": "HGNC:1097", + "display": "BRAF", + "system": "https://www.genenames.org/" + }, + { + "code": "HGNC:391", + "display": "AKT1", + "system": "https://www.genenames.org/" + }, + { + "code": "HGNC:76", + "display": "ABL1", + "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:21597", + "display": "ACAD10", + "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": "1c8ae848-45ee-4edd-afb2-72487f435b20", + "patient": { + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", + "type": "Patient" + }, + "chromosome": "chr3", + "localization": [ + { + "code": "intergenic", + "display": "Intergenic", + "system": "dnpm-dip/variant/localization" + } + ], + "startRange": { + "start": 15541, + "end": 15583 + }, + "endRange": { + "start": 16511, + "end": 16561 + }, + "totalCopyNumber": 6, + "relativeCopyNumber": 0.18550200565474262, + "cnA": 0.38005236070898285, + "cnB": 0.6130876401127077, + "reportedAffectedGenes": [ + { + "code": "HGNC:33", + "display": "ABCA3", + "system": "https://www.genenames.org/" + }, + { + "code": "HGNC:5173", + "display": "HRAS", "system": "https://www.genenames.org/" }, { @@ -1024,8 +1710,8 @@ "system": "https://www.genenames.org/" }, { - "code": "HGNC:34", - "display": "ABCA4", + "code": "HGNC:3689", + "display": "FGFR2", "system": "https://www.genenames.org/" }, { @@ -1034,19 +1720,52 @@ "system": "https://www.genenames.org/" }, { - "code": "HGNC:3236", - "display": "EGFR", + "code": "HGNC:21597", + "display": "ACAD10", + "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/" + } + ], + "reportedFocality": "partial q-arm", + "type": { + "code": "high-level-gain", + "display": "High-level-gain", + "system": "dnpm-dip/mtb/ngs-report/cnv/type" + }, + "copyNumberNeutralLoH": [ + { + "code": "HGNC:9967", + "display": "RET", + "system": "https://www.genenames.org/" + }, + { + "code": "HGNC:1753", + "display": "CDH13", + "system": "https://www.genenames.org/" + }, + { + "code": "HGNC:11998", + "display": "TP53", "system": "https://www.genenames.org/" } ] }, { - "id": "9ca350f8-7def-4a6b-9251-d76cda6c9066", + "id": "5be71de8-fdec-476e-b1e2-6b8f2c40d192", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, - "chromosome": "chr7", + "chromosome": "chr3", "localization": [ { "code": "intronic", @@ -1055,66 +1774,18 @@ } ], "startRange": { - "start": 33756, - "end": 33798 + "start": 16209, + "end": 16251 }, "endRange": { - "start": 33971, - "end": 34021 + "start": 16298, + "end": 16348 }, - "totalCopyNumber": 5, - "relativeCopyNumber": 0.9849081436334101, - "cnA": 0.7654754033556277, - "cnB": 0.4113320623943184, + "totalCopyNumber": 1, + "relativeCopyNumber": 0.8159929997062916, + "cnA": 0.8448699471375899, + "cnB": 0.9308418544134139, "reportedAffectedGenes": [ - { - "code": "HGNC:33", - "display": "ABCA3", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:25829", - "display": "ABRAXAS1", - "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:9967", - "display": "RET", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:21298", - "display": "AACS", - "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/" - } - ], - "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", @@ -1126,8 +1797,23 @@ "system": "https://www.genenames.org/" }, { - "code": "HGNC:3942", - "display": "MTOR", + "code": "HGNC:76", + "display": "ABL1", + "system": "https://www.genenames.org/" + }, + { + "code": "HGNC:18615", + "display": "BRAFP1", + "system": "https://www.genenames.org/" + }, + { + "code": "HGNC:1753", + "display": "CDH13", + "system": "https://www.genenames.org/" + }, + { + "code": "HGNC:3690", + "display": "FGFR3", "system": "https://www.genenames.org/" }, { @@ -1141,62 +1827,8 @@ "system": "https://www.genenames.org/" }, { - "code": "HGNC:9967", - "display": "RET", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:3689", - "display": "FGFR2", - "system": "https://www.genenames.org/" - } - ] - }, - { - "id": "3f0d9d82-46ad-44e9-85a4-fc5fccf78dae", - "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", - "type": "Patient" - }, - "chromosome": "chr7", - "localization": [ - { - "code": "splicing-region", - "display": "splicing region", - "system": "dnpm-dip/variant/localization" - } - ], - "startRange": { - "start": 5174, - "end": 5216 - }, - "endRange": { - "start": 5568, - "end": 5618 - }, - "totalCopyNumber": 4, - "relativeCopyNumber": 0.7837528048147511, - "cnA": 0.8598945814656759, - "cnB": 0.45985813940248477, - "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:886", - "display": "ATRX", + "code": "HGNC:1100", + "display": "BRCA1", "system": "https://www.genenames.org/" }, { @@ -1205,28 +1837,28 @@ "system": "https://www.genenames.org/" }, { - "code": "HGNC:34", - "display": "ABCA4", + "code": "HGNC:3689", + "display": "FGFR2", "system": "https://www.genenames.org/" }, { - "code": "HGNC:3236", - "display": "EGFR", + "code": "HGNC:3942", + "display": "MTOR", + "system": "https://www.genenames.org/" + }, + { + "code": "HGNC:21597", + "display": "ACAD10", "system": "https://www.genenames.org/" } ], "reportedFocality": "partial q-arm", "type": { - "code": "high-level-gain", - "display": "High-level-gain", + "code": "loss", + "display": "Loss", "system": "dnpm-dip/mtb/ngs-report/cnv/type" }, "copyNumberNeutralLoH": [ - { - "code": "HGNC:33", - "display": "ABCA3", - "system": "https://www.genenames.org/" - }, { "code": "HGNC:5173", "display": "HRAS", @@ -1237,136 +1869,24 @@ "display": "CDH13", "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:1777", - "display": "CDK6", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:34", - "display": "ABCA4", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:6407", - "display": "KRAS", - "system": "https://www.genenames.org/" - } - ] - }, - { - "id": "67beb706-0870-470e-b6c1-bf28662a60f6", - "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", - "type": "Patient" - }, - "chromosome": "chr21", - "localization": [ - { - "code": "regulatory-region", - "display": "Regulatory region", - "system": "dnpm-dip/variant/localization" - } - ], - "startRange": { - "start": 46825, - "end": 46867 - }, - "endRange": { - "start": 47805, - "end": 47855 - }, - "totalCopyNumber": 4, - "relativeCopyNumber": 0.667919646926896, - "cnA": 0.6344586287700189, - "cnB": 0.5935064515068115, - "reportedAffectedGenes": [ - { - "code": "HGNC:6973", - "display": "MDM2", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:3690", - "display": "FGFR3", - "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:3236", - "display": "EGFR", - "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/" - } - ], - "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:391", "display": "AKT1", "system": "https://www.genenames.org/" }, { - "code": "HGNC:1777", - "display": "CDK6", + "code": "HGNC:18615", + "display": "BRAFP1", "system": "https://www.genenames.org/" }, { - "code": "HGNC:6407", - "display": "KRAS", + "code": "HGNC:1097", + "display": "BRAF", + "system": "https://www.genenames.org/" + }, + { + "code": "HGNC:25662", + "display": "AAGAB", "system": "https://www.genenames.org/" }, { @@ -1382,35 +1902,35 @@ ] }, { - "id": "302808e8-25e5-44dd-bac1-1ec3bc901fca", + "id": "bf49e477-07aa-4101-a4f6-45fddd22241e", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, - "chromosome": "chr15", + "chromosome": "chr1", "localization": [ { - "code": "splicing-region", - "display": "splicing region", + "code": "intronic", + "display": "Intronic", "system": "dnpm-dip/variant/localization" } ], "startRange": { - "start": 29564, - "end": 29606 + "start": 5179, + "end": 5221 }, "endRange": { - "start": 30496, - "end": 30546 + "start": 5721, + "end": 5771 }, - "totalCopyNumber": 6, - "relativeCopyNumber": 0.9554782410556386, - "cnA": 0.14914124694657616, - "cnB": 0.04403923699882417, + "totalCopyNumber": 2, + "relativeCopyNumber": 0.1383312497836242, + "cnA": 0.1737617522251631, + "cnB": 0.3670178080721188, "reportedAffectedGenes": [ { - "code": "HGNC:11998", - "display": "TP53", + "code": "HGNC:33", + "display": "ABCA3", "system": "https://www.genenames.org/" }, { @@ -1423,16 +1943,6 @@ "display": "ABRAXAS1", "system": "https://www.genenames.org/" }, - { - "code": "HGNC:3690", - "display": "FGFR3", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:391", - "display": "AKT1", - "system": "https://www.genenames.org/" - }, { "code": "HGNC:76", "display": "ABL1", @@ -1444,13 +1954,8 @@ "system": "https://www.genenames.org/" }, { - "code": "HGNC:21597", - "display": "ACAD10", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:18615", - "display": "BRAFP1", + "code": "HGNC:21298", + "display": "AACS", "system": "https://www.genenames.org/" }, { @@ -1464,25 +1969,30 @@ "system": "https://www.genenames.org/" }, { - "code": "HGNC:1100", - "display": "BRCA1", + "code": "HGNC:3236", + "display": "EGFR", "system": "https://www.genenames.org/" }, { - "code": "HGNC:9967", - "display": "RET", + "code": "HGNC:21597", + "display": "ACAD10", "system": "https://www.genenames.org/" }, { - "code": "HGNC:21298", - "display": "AACS", + "code": "HGNC:18615", + "display": "BRAFP1", + "system": "https://www.genenames.org/" + }, + { + "code": "HGNC:6407", + "display": "KRAS", "system": "https://www.genenames.org/" } ], "reportedFocality": "partial q-arm", "type": { - "code": "high-level-gain", - "display": "High-level-gain", + "code": "low-level-gain", + "display": "Low-level-gain", "system": "dnpm-dip/mtb/ngs-report/cnv/type" }, "copyNumberNeutralLoH": [ @@ -1492,54 +2002,24 @@ "system": "https://www.genenames.org/" }, { - "code": "HGNC:6973", - "display": "MDM2", + "code": "HGNC:9967", + "display": "RET", "system": "https://www.genenames.org/" }, { - "code": "HGNC:3690", - "display": "FGFR3", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:1097", - "display": "BRAF", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:1777", - "display": "CDK6", - "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:34", - "display": "ABCA4", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:21597", - "display": "ACAD10", + "code": "HGNC:3942", + "display": "MTOR", "system": "https://www.genenames.org/" } ] }, { - "id": "251c4538-efd4-41cb-ac11-7aa6004b4546", + "id": "e994d607-4c06-4c97-a3f3-abd7c647cafc", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, - "chromosome": "chr6", + "chromosome": "chr11", "localization": [ { "code": "regulatory-region", @@ -1548,23 +2028,33 @@ } ], "startRange": { - "start": 10903, - "end": 10945 + "start": 31410, + "end": 31452 }, "endRange": { - "start": 11359, - "end": 11409 + "start": 31492, + "end": 31542 }, "totalCopyNumber": 7, - "relativeCopyNumber": 0.3329690143900391, - "cnA": 0.6937471513244393, - "cnB": 0.07580581478248649, + "relativeCopyNumber": 0.887114469525569, + "cnA": 0.4192792069304896, + "cnB": 0.5561735247735512, "reportedAffectedGenes": [ { "code": "HGNC:11998", "display": "TP53", "system": "https://www.genenames.org/" }, + { + "code": "HGNC:5173", + "display": "HRAS", + "system": "https://www.genenames.org/" + }, + { + "code": "HGNC:6973", + "display": "MDM2", + "system": "https://www.genenames.org/" + }, { "code": "HGNC:1753", "display": "CDH13", @@ -1576,8 +2066,18 @@ "system": "https://www.genenames.org/" }, { - "code": "HGNC:1777", - "display": "CDK6", + "code": "HGNC:391", + "display": "AKT1", + "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/" }, { @@ -1586,8 +2086,8 @@ "system": "https://www.genenames.org/" }, { - "code": "HGNC:18615", - "display": "BRAFP1", + "code": "HGNC:21597", + "display": "ACAD10", "system": "https://www.genenames.org/" } ], @@ -1599,33 +2099,8 @@ }, "copyNumberNeutralLoH": [ { - "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:3690", - "display": "FGFR3", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:1097", - "display": "BRAF", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:1777", - "display": "CDK6", + "code": "HGNC:1100", + "display": "BRCA1", "system": "https://www.genenames.org/" }, { @@ -1634,13 +2109,23 @@ "system": "https://www.genenames.org/" }, { - "code": "HGNC:18615", - "display": "BRAFP1", + "code": "HGNC:3689", + "display": "FGFR2", "system": "https://www.genenames.org/" }, { - "code": "HGNC:6407", - "display": "KRAS", + "code": "HGNC:3942", + "display": "MTOR", + "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/" } ] @@ -1648,240 +2133,42 @@ ], "dnaFusions": [ { - "id": "1175b70b-b667-47b2-831d-c8537f035b47", + "id": "36f9be13-2d08-4ef1-84b4-7bc4021cd42a", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, "localization": [ { - "code": "regulatory-region", - "display": "Regulatory region", - "system": "dnpm-dip/variant/localization" - } - ], - "fusionPartner5prime": { - "chromosome": "chr19", - "gene": { - "code": "HGNC:21597", - "display": "ACAD10", - "system": "https://www.genenames.org/" - }, - "position": 640 - }, - "fusionPartner3prime": { - "chromosome": "chr7", - "gene": { - "code": "HGNC:3689", - "display": "FGFR2", - "system": "https://www.genenames.org/" - }, - "position": 214 - }, - "reportedNumReads": 8 - }, - { - "id": "1554981f-5fb8-4af4-9469-9577039873a2", - "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", - "type": "Patient" - }, - "localization": [ - { - "code": "splicing-region", - "display": "splicing region", - "system": "dnpm-dip/variant/localization" - } - ], - "fusionPartner5prime": { - "chromosome": "chr17", - "gene": { - "code": "HGNC:1097", - "display": "BRAF", - "system": "https://www.genenames.org/" - }, - "position": 361 - }, - "fusionPartner3prime": { - "chromosome": "chr15", - "gene": { - "code": "HGNC:391", - "display": "AKT1", - "system": "https://www.genenames.org/" - }, - "position": 522 - }, - "reportedNumReads": 9 - }, - { - "id": "8acbfaea-f14a-4acc-bf2b-c704d5389528", - "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", - "type": "Patient" - }, - "localization": [ - { - "code": "coding-region", - "display": "Coding region", - "system": "dnpm-dip/variant/localization" - } - ], - "fusionPartner5prime": { - "chromosome": "chr20", - "gene": { - "code": "HGNC:886", - "display": "ATRX", - "system": "https://www.genenames.org/" - }, - "position": 545 - }, - "fusionPartner3prime": { - "chromosome": "chr22", - "gene": { - "code": "HGNC:21597", - "display": "ACAD10", - "system": "https://www.genenames.org/" - }, - "position": 360 - }, - "reportedNumReads": 4 - }, - { - "id": "1b64154c-4998-4863-be54-015dbc4e15b1", - "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", - "type": "Patient" - }, - "localization": [ - { - "code": "regulatory-region", - "display": "Regulatory region", - "system": 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"Intronic", "system": "dnpm-dip/variant/localization" } ], "fusionPartner5prime": { "chromosome": "chr4", "gene": { - "code": "HGNC:1753", - "display": "CDH13", + "code": "HGNC:25829", + "display": "ABRAXAS1", "system": "https://www.genenames.org/" }, - "position": 219 + "position": 644 }, "fusionPartner3prime": { - "chromosome": "chr18", + "chromosome": "chr10", "gene": { - "code": "HGNC:33", - "display": "ABCA3", + "code": "HGNC:76", + "display": "ABL1", "system": "https://www.genenames.org/" }, - "position": 955 + "position": 720 }, - "reportedNumReads": 8 + "reportedNumReads": 9 }, { - "id": "794aec2c-de1b-406c-94e0-e8248d5885d4", + "id": "dc6500d9-83ea-4351-8918-96b275da979e", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, "localization": [ @@ -1892,36 +2179,201 @@ } ], "fusionPartner5prime": { - "chromosome": "chr18", + "chromosome": "chrMT", "gene": { - "code": "HGNC:391", - "display": "AKT1", + "code": "HGNC:3689", + "display": "FGFR2", "system": "https://www.genenames.org/" }, - "position": 914 + "position": 555 }, "fusionPartner3prime": { - "chromosome": "chr15", + "chromosome": "chrY", "gene": { - "code": "HGNC:6407", - "display": "KRAS", + "code": "HGNC:3690", + "display": "FGFR3", "system": "https://www.genenames.org/" }, - "position": 299 + "position": 963 }, - "reportedNumReads": 8 + "reportedNumReads": 6 + }, + { + "id": "6c6a8cd9-3116-4df4-923e-a62dd1700f21", + "patient": { + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", + "type": "Patient" + }, + "localization": [ + { + "code": "intergenic", + "display": "Intergenic", + "system": "dnpm-dip/variant/localization" + } + ], + "fusionPartner5prime": { + "chromosome": "chr15", + "gene": { + "code": "HGNC:3689", + "display": "FGFR2", + "system": "https://www.genenames.org/" + }, + "position": 177 + }, + "fusionPartner3prime": { + "chromosome": "chr7", + "gene": { + "code": "HGNC:3942", + "display": "MTOR", + "system": 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- "issuedOn": "2025-07-09", + "issuedOn": "2025-08-19", "priority": { - "code": "3", - "display": "3", + "code": "1", + "display": "1", "system": "dnpm-dip/recommendation/priority" }, "levelOfEvidence": { @@ -2251,26 +2837,26 @@ ], "publications": [ { - "id": "1386708679", + "id": "1512374529", "system": "https://pubmed.ncbi.nlm.nih.gov", "type": "Publication" } ] }, "code": { - "code": "OP", - "display": "Operation", + "code": "ST", + "display": "Strahlentherapie", "system": "dnpm-dip/mtb/recommendation/procedure/category" }, "supportingVariants": [ { "variant": { - "id": "302808e8-25e5-44dd-bac1-1ec3bc901fca", + "id": "aa685ae4-350d-4e95-840a-1aaa53d356f7", "type": "Variant" }, "gene": { - "code": "HGNC:11998", - "display": "TP53", + "code": "HGNC:18615", + "display": "BRAFP1", "system": "https://www.genenames.org/" } } @@ -2279,21 +2865,21 @@ ], "studyEnrollmentRecommendations": [ { - "id": "106ad35c-93c3-4c51-8da4-090489615969", + "id": "48f662c5-2cb8-4184-b5cc-edaf1a15f88a", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, "reason": { - "id": "19de7fac-c8db-4936-b8fe-c47acda6599b", - "display": "Bösartige Neubildung: Sonstige und nicht näher bezeichnete Hirnnerven", + "id": "ca45ee75-b6fb-4194-acd7-4197c96ba819", + "display": "Bösartige Neubildung: Gallenwege, nicht näher bezeichnet", "type": "MTBDiagnosis" }, - "issuedOn": "2025-07-09", + "issuedOn": "2025-08-19", "levelOfEvidence": { "grading": { - "code": "m2C", - "display": "m2C", + "code": "m1A", + "display": "m1A", "system": "dnpm-dip/mtb/level-of-evidence/grading" }, "addendums": [ @@ -2305,33 +2891,33 @@ ], "publications": [ { - "id": "1525598879", + "id": "1591128131", "system": "https://pubmed.ncbi.nlm.nih.gov", "type": "Publication" } ] }, "priority": { - "code": "3", - "display": "3", + "code": "4", + "display": "4", "system": "dnpm-dip/recommendation/priority" }, "study": [ { - "id": "NCT69553088", - "system": "NCT", + "id": "2299-906975-63-07", + "system": "Eudra-CT", "type": "Study" } ], "supportingVariants": [ { "variant": { - "id": "4093aaf4-b5a9-4a36-a027-bf3b4a313a6f", + "id": "716e8fd2-12ba-488a-a391-bcc8631f00ca", "type": "Variant" }, "gene": { - "code": "HGNC:1753", - "display": "CDH13", + "code": "HGNC:33", + "display": "ABCA3", "system": "https://www.genenames.org/" } } @@ -2340,30 +2926,30 @@ ], "histologyReevaluationRequests": [ { - "id": "b6fdf1d5-4434-47e7-97d8-3a085f772a07", + "id": "d9839998-8f8d-462b-a348-af8debb9954a", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, "specimen": { - "id": "c479b60d-c3e4-44d4-b0e5-c5891dd460ed", + "id": "f9c2810b-19e7-4236-98bd-a8687be994e3", "type": "TumorSpecimen" }, - "issuedOn": "2025-07-09" + "issuedOn": "2025-08-19" } ], "rebiopsyRequests": [ { - "id": "5317db9f-af34-403f-8084-bed8d7822df7", + "id": "9d2921d5-dfb7-4b08-81bb-3a701ee9cb2c", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, "tumorEntity": { - "id": "19de7fac-c8db-4936-b8fe-c47acda6599b", + "id": "ca45ee75-b6fb-4194-acd7-4197c96ba819", "type": "MTBDiagnosis" }, - "issuedOn": "2025-07-09" + "issuedOn": "2025-08-19" } ], "notes": [ @@ -2373,86 +2959,193 @@ ], "followUps": [ { - "date": "2009-08-12", + "date": "2010-10-01", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, - "lastContactDate": "2009-08-12" + "lastContactDate": "2010-10-01" } ], "claims": [ { - "id": "d9d6e12f-46a2-4fe0-8aa8-1839a6bf22cb", + "id": "a12127de-e887-46f7-b810-b7f5ddd5287d", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, "recommendation": { - "id": "55f1bead-15c6-4fd5-8aa8-ee4c9b2cb285", + "id": "8b34b70c-5fe8-4ca8-80c3-32280a04601c", "type": "MTBMedicationRecommendation" }, - "issuedOn": "2025-07-09", + "issuedOn": "2025-08-19", "stage": { - "code": "follow-up-claim", - "display": "Folgeantrag", + "code": "revocation", + "display": "Widerspruch", + "system": "dnpm-dip/mtb/claim/stage" + } + }, + { + "id": "2ab0997f-06e5-485b-b795-1a2ef1dae9d8", + "patient": { + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", + "type": "Patient" + }, + "recommendation": { + "id": "d1ee37d9-0557-437b-8213-89e81af01ce6", + "type": "MTBMedicationRecommendation" + }, + "issuedOn": "2025-08-19", + "stage": { + "code": "revocation", + "display": "Widerspruch", "system": "dnpm-dip/mtb/claim/stage" } } ], "claimResponses": [ { - "id": "159caaab-9792-4004-993e-9c9410915a8a", + "id": "5b649e32-ef06-4832-b65c-b2d1a2746363", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, "claim": { - "id": "d9d6e12f-46a2-4fe0-8aa8-1839a6bf22cb", + "id": "a12127de-e887-46f7-b810-b7f5ddd5287d", "type": "Claim" }, - "issuedOn": "2025-07-09", + "issuedOn": "2025-08-19", "status": { - "code": "unknown", - "display": "Unbekannt", + "code": "accepted", + "display": "Angenommen", "system": "dnpm-dip/mtb/claim-response/status" } + }, + { + "id": "043f4612-8f33-46e5-afdd-d2ccfc985f96", + "patient": { + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", + "type": "Patient" + }, + "claim": { + "id": "2ab0997f-06e5-485b-b795-1a2ef1dae9d8", + "type": "Claim" + }, + "issuedOn": "2025-08-19", + "status": { + "code": "rejected", + "display": "Abgelehnt", + "system": "dnpm-dip/mtb/claim-response/status" + }, + "statusReason": [ + { + "code": "formal-reasons", + "display": "Inhaltliche Gründe", + "system": "dnpm-dip/mtb/claim-response/status-reason" + } + ] } ], "systemicTherapies": [ { "history": [ { - "id": "f47600f1-9563-4964-b4db-1826faf01a52", + "id": "cca7b7c6-bf76-4e44-bc3d-a2501bab8052", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, "reason": { - "id": "19de7fac-c8db-4936-b8fe-c47acda6599b", - "display": "Bösartige Neubildung: Sonstige und nicht näher bezeichnete Hirnnerven", + "id": "ca45ee75-b6fb-4194-acd7-4197c96ba819", + "display": "Bösartige Neubildung: Gallenwege, nicht näher bezeichnet", "type": "MTBDiagnosis" }, "intent": { - "code": "K", - "display": "Kurativ", + "code": "P", + "display": "Palliativ", "system": "dnpm-dip/therapy/intent" }, "category": { - "code": "N", - "display": "Neoadjuvant", + "code": "S", + "display": "Sonstiges", "system": "dnpm-dip/therapy/category" }, "basedOn": { - "id": "55f1bead-15c6-4fd5-8aa8-ee4c9b2cb285", + "id": "8b34b70c-5fe8-4ca8-80c3-32280a04601c", "type": "MTBMedicationRecommendation" }, - "recordedOn": "2025-07-09", + "recordedOn": "2025-08-19", "status": { "code": "on-going", "display": "Laufend", "system": "dnpm-dip/therapy/status" }, + "recommendationFulfillmentStatus": { + "code": "complete", + "display": "Komplett", + "system": "dnpm-dip/therapy/recommendation-fulfillment-status" + }, + "dosage": { + "code": "under-50%", + "display": "< 50 %", + "system": "dnpm-dip/therapy/dosage-density" + }, + "period": { + "start": "2010-07-23", + "end": "2010-11-26" + }, + "medication": [ + { + "code": "L01FX29", + "display": "Talquetamab", + "system": "http://fhir.de/CodeSystem/bfarm/atc", + "version": "2025" + } + ], + "notes": [ + "Notes on the therapy..." + ] + } + ] + }, + { + "history": [ + { + "id": "b4b536cf-5593-46b8-beba-85de615cea92", + "patient": { + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", + "type": "Patient" + }, + "reason": { + "id": "ca45ee75-b6fb-4194-acd7-4197c96ba819", + "display": "Bösartige Neubildung: Gallenwege, nicht näher bezeichnet", + "type": "MTBDiagnosis" + }, + "intent": { + "code": "P", + "display": "Palliativ", + "system": "dnpm-dip/therapy/intent" + }, + "category": { + "code": "S", + "display": "Sonstiges", + "system": "dnpm-dip/therapy/category" + }, + "basedOn": { + "id": "d1ee37d9-0557-437b-8213-89e81af01ce6", + "type": "MTBMedicationRecommendation" + }, + "recordedOn": "2025-08-19", + "status": { + "code": "stopped", + "display": "Abgebrochen", + "system": "dnpm-dip/therapy/status" + }, + "statusReason": { + "code": "progression", + "display": "Progression", + "system": "dnpm-dip/therapy/status-reason" + }, "recommendationFulfillmentStatus": { "code": "partial", "display": "Partiell", @@ -2464,13 +3157,13 @@ "system": "dnpm-dip/therapy/dosage-density" }, "period": { - "start": "2009-04-29", - "end": "2009-10-21" + "start": "2010-07-16", + "end": "2010-11-26" }, "medication": [ { - "code": "L01FX03", - "display": "Catumaxomab", + "code": "L01FX34", + "display": "Odronextamab", "system": "http://fhir.de/CodeSystem/bfarm/atc", "version": "2025" } @@ -2484,24 +3177,46 @@ ], "responses": [ { - "id": "5da70b0a-e683-4de8-8671-b6508f237fc9", + "id": "675f6982-ef47-4a80-9b79-302e67ab76c4", "patient": { - "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", "type": "Patient" }, "therapy": { - "id": "f47600f1-9563-4964-b4db-1826faf01a52", + "id": "cca7b7c6-bf76-4e44-bc3d-a2501bab8052", "type": "MTBSystemicTherapy" }, - "effectiveDate": "2009-08-12", + "effectiveDate": "2010-10-01", "method": { - "code": "RANO", - "display": "Nach RANO-Kriterien", + "code": "RECIST", + "display": "Nach RECIST-Kriterien", "system": "dnpm-dip/mtb/response/method" }, "value": { - "code": "SD", - "display": "Stable Disease", + "code": "MR", + "display": "Mixed Response", + "system": "RECIST" + } + }, + { + "id": "852c7f10-d62c-4c8c-b062-9e7a9e3baae4", + "patient": { + "id": "d0c95174-b9ab-4c6c-8fda-d8176df6f216", + "type": "Patient" + }, + "therapy": { + "id": "b4b536cf-5593-46b8-beba-85de615cea92", + "type": "MTBSystemicTherapy" + }, + "effectiveDate": "2010-10-22", + "method": { + "code": "RECIST", + "display": "Nach RECIST-Kriterien", + "system": "dnpm-dip/mtb/response/method" + }, + "value": { + "code": "CR", + "display": "Complete Response", "system": "RECIST" } }