From b686db4244ecfaacb048ff296a759c58a788f7f6 Mon Sep 17 00:00:00 2001 From: Paul-Christian Volkmer Date: Wed, 9 Jul 2025 21:28:57 +0200 Subject: [PATCH] chore: update data model Changes due to: https://github.com/dnpm-dip/mtb-model/commit/31a614bc011d4ea33b39ab307fdfeae13f8a5138 --- .../TestData/mv64e-mtb-fake-patient.json | 3476 +++++++---------- MV64e.MTB/Mtb.cs | 167 + 2 files changed, 1541 insertions(+), 2102 deletions(-) diff --git a/MV64e.MTB.Test/TestData/mv64e-mtb-fake-patient.json b/MV64e.MTB.Test/TestData/mv64e-mtb-fake-patient.json index 01d480e..43fc2ef 100644 --- a/MV64e.MTB.Test/TestData/mv64e-mtb-fake-patient.json +++ b/MV64e.MTB.Test/TestData/mv64e-mtb-fake-patient.json @@ -1,13 +1,13 @@ { "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "gender": { "code": "female", "display": "Weiblich", "system": "Gender" }, - "birthDate": "1994-05-25", - "dateOfDeath": "2018-05-25", + "birthDate": "1962-10-21", + "dateOfDeath": "2009-10-21", "healthInsurance": { "type": { "code": "GKV", @@ -25,7 +25,7 @@ "municipalityCode": "12345" }, "age": { - "value": 24, + "value": 47, "unit": "Years" }, "vitalStatus": { @@ -36,17 +36,17 @@ }, "episodesOfCare": [ { - "id": "fc02c478-86f6-4910-9ea1-8a0d1e435c83", + "id": "d8b68856-3ba2-4d43-9653-6924897f5eab", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "period": { - "start": "2025-01-04" + "start": "2025-01-09" }, "diagnoses": [ { - "id": "efa999e3-6006-4a76-90f9-32786b5f0531", + "id": "19de7fac-c8db-4936-b8fe-c47acda6599b", "type": "MTBDiagnosis" } ] @@ -54,12 +54,12 @@ ], "diagnoses": [ { - "id": "efa999e3-6006-4a76-90f9-32786b5f0531", + "id": "19de7fac-c8db-4936-b8fe-c47acda6599b", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, - "recordedOn": "2016-01-25", + "recordedOn": "2007-10-21", "type": { "history": [ { @@ -68,35 +68,35 @@ "display": "Hauptdiagnose", "system": "dnpm-dip/mtb/diagnosis/type" }, - "date": "2016-01-25" + "date": "2007-10-21" } ] }, "code": { - "code": "C50.2", - "display": "Bösartige Neubildung: Oberer innerer Quadrant der Brustdrüse", + "code": "C72.5", + "display": "Bösartige Neubildung: Sonstige und nicht näher bezeichnete Hirnnerven", "system": "http://fhir.de/CodeSystem/bfarm/icd-10-gm", "version": "2025" }, "topography": { - "code": "C50.2", - "display": "Oberer innerer Quadrant der Brust", + "code": "C72.5", + "display": "Hirnnerven o.n.A.", "system": "urn:oid:2.16.840.1.113883.6.43.1", "version": "Zweite Revision" }, "grading": { "history": [ { - "date": "2016-01-25", + "date": "2007-10-21", "codes": [ { - "code": "1", - "display": "1 = gut differenziert", + "code": "3", + "display": "3 = schlecht differenziert", "system": "https://www.basisdatensatz.de/feld/161/grading" }, { - "code": "4", - "display": "Glioblastoma", + "code": "3", + "display": "Anaplastic astrocytoma", "system": "dnpm-dip/mtb/who-grading-cns-tumors", "version": "2021" } @@ -107,7 +107,7 @@ "staging": { "history": [ { - "date": "2016-01-25", + "date": "2007-10-21", "method": { "code": "clinical", "display": "Klinisch", @@ -115,22 +115,22 @@ }, "tnmClassification": { "tumor": { - "code": "T2", + "code": "T0", "system": "UICC" }, "nodes": { - "code": "N1", + "code": "Nx", "system": "UICC" }, "metastasis": { - "code": "Mx", + "code": "M0", "system": "UICC" } }, "otherClassifications": [ { - "code": "local", - "display": "Lokal", + "code": "unknown", + "display": "Unbekannt", "system": "dnpm-dip/mtb/diagnosis/kds-tumor-spread" } ] @@ -138,8 +138,8 @@ ] }, "guidelineTreatmentStatus": { - "code": "no-guidelines-available", - "display": "Keine Leitlinien vorhanden", + "code": "impossible", + "display": "Leitlinientherapie nicht möglich", "system": "dnpm-dip/mtb/diagnosis/guideline-treatment-status" }, "notes": [ @@ -149,9 +149,9 @@ ], "familyMemberHistories": [ { - "id": "ba866f34-5681-4446-b635-6ff90e4d03ab", + "id": "0eac775e-ea13-49d4-a390-a5e99744ac6b", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "relationship": { @@ -163,28 +163,28 @@ ], "guidelineTherapies": [ { - "id": "9a89aea6-3305-49f3-94e2-dfe347989dec", + "id": "af77fcc8-bcdc-41fb-9989-c4ad2fd9ce3c", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "reason": { - "id": "efa999e3-6006-4a76-90f9-32786b5f0531", - "display": "Bösartige Neubildung: Oberer innerer Quadrant der Brustdrüse", + "id": "19de7fac-c8db-4936-b8fe-c47acda6599b", + "display": "Bösartige Neubildung: Sonstige und nicht näher bezeichnete Hirnnerven", "type": "MTBDiagnosis" }, - "therapyLine": 3, + "therapyLine": 8, "intent": { "code": "X", "display": "Keine Angabe", "system": "dnpm-dip/therapy/intent" }, "category": { - "code": "O", - "display": "Ohne Bezug zur operativen Therapie", + "code": "A", + "display": "Adjuvant", "system": "dnpm-dip/therapy/category" }, - "recordedOn": "2025-07-04", + "recordedOn": "2025-07-09", "status": { "code": "stopped", "display": "Abgebrochen", @@ -196,13 +196,62 @@ "system": "dnpm-dip/therapy/status-reason" }, "period": { - "start": "2024-07-04", - "end": "2024-09-12" + "start": "2024-03-09", + "end": "2024-08-10" }, "medication": [ { - "code": "L01FX26", - "display": "Mirvetuximab soravtansin", + "code": "L01XX58", + "display": "Epacadostat", + "system": "http://fhir.de/CodeSystem/bfarm/atc", + "version": "2025" + } + ], + "notes": [ + "Notes on the therapy..." + ] + }, + { + "id": "f922939a-926e-4319-90e7-488ed9027d6d", + "patient": { + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "type": "Patient" + }, + "reason": { + "id": "19de7fac-c8db-4936-b8fe-c47acda6599b", + "display": "Bösartige Neubildung: Sonstige und nicht näher bezeichnete Hirnnerven", + "type": "MTBDiagnosis" + }, + "therapyLine": 5, + "intent": { + "code": "X", + "display": "Keine Angabe", + "system": "dnpm-dip/therapy/intent" + }, + "category": { + "code": "I", + "display": "Intraopterativ", + "system": "dnpm-dip/therapy/category" + }, + "recordedOn": "2025-07-09", + "status": { + "code": "stopped", + "display": "Abgebrochen", + "system": "dnpm-dip/therapy/status" + }, + "statusReason": { + "code": "progression", + "display": "Progression", + "system": "dnpm-dip/therapy/status-reason" + }, + "period": { + "start": "2024-04-09", + "end": "2024-09-10" + }, + "medication": [ + { + "code": "L01EG01", + "display": "Temsirolimus", "system": "http://fhir.de/CodeSystem/bfarm/atc", "version": "2025" } @@ -214,20 +263,20 @@ ], "guidelineProcedures": [ { - "id": "99831a57-e26e-45f4-a9d2-cf41f6ef6560", + "id": "b6d5bd15-356d-468a-a816-5fd955fc51a2", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "reason": { - "id": "efa999e3-6006-4a76-90f9-32786b5f0531", - "display": "Bösartige Neubildung: Oberer innerer Quadrant der Brustdrüse", + "id": "19de7fac-c8db-4936-b8fe-c47acda6599b", + "display": "Bösartige Neubildung: Sonstige und nicht näher bezeichnete Hirnnerven", "type": "MTBDiagnosis" }, - "therapyLine": 7, + "therapyLine": 2, "intent": { - "code": "K", - "display": "Kurativ", + "code": "X", + "display": "Keine Angabe", "system": "dnpm-dip/therapy/intent" }, "code": { @@ -236,18 +285,18 @@ "system": "dnpm-dip/mtb/procedure/type" }, "status": { - "code": "stopped", - "display": "Abgebrochen", + "code": "on-going", + "display": "Laufend", "system": "dnpm-dip/therapy/status" }, "statusReason": { - "code": "patient-death", - "display": "Tod", + "code": "regular-completion-with-substance-change", + "display": "Reguläres Ende mit Substanzwechsel", "system": "dnpm-dip/therapy/status-reason" }, - "recordedOn": "2025-07-04", + "recordedOn": "2025-07-09", "period": { - "start": "2025-01-04" + "start": "2025-01-09" }, "notes": [ "Notes on the therapeutic procedure..." @@ -256,45 +305,45 @@ ], "performanceStatus": [ { - "id": "6cc2bd40-4193-4814-aa30-54c6dd1dea7d", + "id": "279b4954-7901-4b0b-89f3-1f90b12bcc02", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, - "effectiveDate": "2025-07-04", + "effectiveDate": "2025-07-09", "value": { - "code": "4", - "display": "ECOG 4", + "code": "3", + "display": "ECOG 3", "system": "ECOG-Performance-Status" } } ], "specimens": [ { - "id": "6abae7ae-1308-4637-8093-0be6594a5bc4", + "id": "c479b60d-c3e4-44d4-b0e5-c5891dd460ed", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "diagnosis": { - "id": "efa999e3-6006-4a76-90f9-32786b5f0531", + "id": "19de7fac-c8db-4936-b8fe-c47acda6599b", "type": "MTBDiagnosis" }, "type": { - "code": "unknown", - "display": "Unbekannt", + "code": "FFPE", + "display": "FFPE", "system": "dnpm-dip/mtb/tumor-specimen/type" }, "collection": { - "date": "2025-07-04", + "date": "2025-07-09", "method": { - "code": "cytology", - "display": "Zytologie", + "code": "biopsy", + "display": "Biopsie", "system": "dnpm-dip/mtb/tumor-specimen/collection/method" }, "localization": { - "code": "regional-lymph-nodes", - "display": "Regionäre Lymphknoten", + "code": "local-recurrence", + "display": "Lokalrezidiv", "system": "dnpm-dip/mtb/tumor-specimen/collection/localization" } } @@ -302,9 +351,9 @@ ], "priorDiagnosticReports": [ { - "id": "e23f3cc9-19ea-477e-a72e-696618064e91", + "id": "a7f20f97-c9ea-424d-add6-605dc2461782", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "performer": { @@ -312,9 +361,9 @@ "display": "Molekular-Pathologie UKx", "type": "Institute" }, - "issuedOn": "2025-07-04", + "issuedOn": "2025-07-09", "specimen": { - "id": "6abae7ae-1308-4637-8093-0be6594a5bc4", + "id": "c479b60d-c3e4-44d4-b0e5-c5891dd460ed", "type": "TumorSpecimen" }, "type": { @@ -329,43 +378,43 @@ ], "histologyReports": [ { - "id": "138c56dc-b90a-4737-b89d-0422e9323cac", + "id": "d57816b6-18b5-485d-9d7f-fc31004c429e", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "specimen": { - "id": "6abae7ae-1308-4637-8093-0be6594a5bc4", + "id": "c479b60d-c3e4-44d4-b0e5-c5891dd460ed", "type": "TumorSpecimen" }, - "issuedOn": "2025-07-04", + "issuedOn": "2025-07-09", "results": { "tumorMorphology": { - "id": "79d857bc-0726-4f59-8add-995943f93670", + "id": "21f1d157-6f40-4127-9b2f-91f32fedceb0", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "specimen": { - "id": "6abae7ae-1308-4637-8093-0be6594a5bc4", + "id": "c479b60d-c3e4-44d4-b0e5-c5891dd460ed", "type": "TumorSpecimen" }, "value": { - "code": "9372/3", - "display": "Entdifferenziertes Chordom", + "code": "9542/3", + "display": "Epitheloider maligner peripherer Nervenscheidentumor", "system": "urn:oid:2.16.840.1.113883.6.43.1", "version": "Zweite Revision" }, "note": "Notes..." }, "tumorCellContent": { - "id": "0fa34021-6083-49da-b176-2be816b77e4f", + "id": "81a42ef1-f9fe-4dfe-a876-cf1a262ca4ce", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "specimen": { - "id": "6abae7ae-1308-4637-8093-0be6594a5bc4", + "id": "c479b60d-c3e4-44d4-b0e5-c5891dd460ed", "type": "TumorSpecimen" }, "method": { @@ -373,57 +422,29 @@ "display": "Histologisch", "system": "dnpm-dip/mtb/tumor-cell-content/method" }, - "value": 0.639758904015403 + "value": 0.12624946426974026 } } } ], "ihcReports": [ { - "id": "678bc235-4a27-4fcd-88ab-8d682184e5c0", + "id": "2046a862-66e0-4402-bb93-b64ce179d014", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "specimen": { - "id": "6abae7ae-1308-4637-8093-0be6594a5bc4", + "id": "c479b60d-c3e4-44d4-b0e5-c5891dd460ed", "type": "TumorSpecimen" }, - "issuedOn": "2025-07-04", + "issuedOn": "2025-07-09", "results": { "proteinExpression": [ { - "id": "30e22700-b895-4ee6-8f1e-fee9a82d15a7", + "id": "15d628bb-6e6a-435f-98dd-8bbc2f0311d1", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", - "type": "Patient" - }, - "protein": { - "code": "HGNC:886", - "display": "ATRX", - "system": "https://www.genenames.org/" - }, - "value": { - "code": "exp", - "display": "Exprimiert", - "system": "dnpm-dip/mtb/ihc/protein-expression/result" - }, - "tpsScore": 58, - "icScore": { - "code": "3", - "display": ">= 10%", - "system": "dnpm-dip/mtb/ihc/protein-expression/ic-score" - }, - "tcScore": { - "code": "4", - "display": ">= 25%", - "system": "dnpm-dip/mtb/ihc/protein-expression/tc-score" - } - }, - { - "id": "f465d53e-bfab-4392-bcb9-15ff83c92b11", - "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "protein": { @@ -432,11 +453,11 @@ "system": "https://www.genenames.org/" }, "value": { - "code": "exp", - "display": "Exprimiert", + "code": "1+", + "display": "1+", "system": "dnpm-dip/mtb/ihc/protein-expression/result" }, - "tpsScore": 25, + "tpsScore": 42, "icScore": { "code": "1", "display": ">= 1%", @@ -449,93 +470,9 @@ } }, { - "id": "0d2acf7d-2a6d-49d3-842b-574684e94f03", + "id": "a7af8f99-b917-4498-8c95-f09818906de2", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", - "type": "Patient" - }, - "protein": { - "code": "HGNC:6407", - "display": "KRAS", - "system": "https://www.genenames.org/" - }, - "value": { - "code": "unknown", - "display": "untersucht, kein Ergebnis", - "system": "dnpm-dip/mtb/ihc/protein-expression/result" - }, - "tpsScore": 31, - "icScore": { - "code": "1", - "display": ">= 1%", - "system": "dnpm-dip/mtb/ihc/protein-expression/ic-score" - }, - "tcScore": { - "code": "1", - "display": ">= 1%", - "system": "dnpm-dip/mtb/ihc/protein-expression/tc-score" - } - }, - { - "id": "71c3c5f9-8859-466c-a086-e05f4d454429", - "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", - "type": "Patient" - }, - "protein": { - "code": "HGNC:3689", - "display": "FGFR2", - "system": "https://www.genenames.org/" - }, - "value": { - "code": "not-exp", - "display": "Nicht exprimiert", - "system": "dnpm-dip/mtb/ihc/protein-expression/result" - }, - "tpsScore": 65, - "icScore": { - "code": "1", - "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": "c8048a54-4e03-489a-ba13-19ed6604a04e", - "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", - "type": "Patient" - }, - "protein": { - "code": "HGNC:21597", - "display": "ACAD10", - "system": "https://www.genenames.org/" - }, - "value": { - "code": "exp", - "display": "Exprimiert", - "system": "dnpm-dip/mtb/ihc/protein-expression/result" - }, - "tpsScore": 61, - "icScore": { - "code": "3", - "display": ">= 10%", - "system": "dnpm-dip/mtb/ihc/protein-expression/ic-score" - }, - "tcScore": { - "code": "0", - "display": "< 1%", - "system": "dnpm-dip/mtb/ihc/protein-expression/tc-score" - } - }, - { - "id": "c3cfac81-5058-490a-a21b-6aa5ca69d560", - "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "protein": { @@ -544,47 +481,75 @@ "system": "https://www.genenames.org/" }, "value": { - "code": "2+", - "display": "2+", + "code": "1+", + "display": "1+", "system": "dnpm-dip/mtb/ihc/protein-expression/result" }, - "tpsScore": 6, + "tpsScore": 90, "icScore": { - "code": "1", - "display": ">= 1%", + "code": "0", + "display": "< 1%", "system": "dnpm-dip/mtb/ihc/protein-expression/ic-score" }, "tcScore": { - "code": "0", - "display": "< 1%", + "code": "4", + "display": ">= 25%", "system": "dnpm-dip/mtb/ihc/protein-expression/tc-score" } }, { - "id": "d95f09ce-d57b-4880-a8eb-8b55caec1dbb", + "id": "ea2d53e1-9a52-4fb2-87fd-b8b9acfb4017", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "protein": { - "code": "HGNC:11998", - "display": "TP53", + "code": "HGNC:21298", + "display": "AACS", "system": "https://www.genenames.org/" }, "value": { - "code": "not-exp", - "display": "Nicht exprimiert", + "code": "1+", + "display": "1+", "system": "dnpm-dip/mtb/ihc/protein-expression/result" }, - "tpsScore": 86, + "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", + "system": "https://www.genenames.org/" + }, + "value": { + "code": "unknown", + "display": "untersucht, kein Ergebnis", + "system": "dnpm-dip/mtb/ihc/protein-expression/result" + }, + "tpsScore": 83, "icScore": { "code": "1", "display": ">= 1%", "system": "dnpm-dip/mtb/ihc/protein-expression/ic-score" }, "tcScore": { - "code": "3", - "display": ">= 10%", + "code": "5", + "display": ">= 50%", "system": "dnpm-dip/mtb/ihc/protein-expression/tc-score" } } @@ -593,21 +558,45 @@ } } ], - "ngsReports": [ + "msiFindings": [ { - "id": "3fc2e1a0-4d9c-487d-9606-ee7b5ca4ca8a", + "id": "73df8592-b79a-4277-ab5b-0d59c4af5659", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "specimen": { - "id": "6abae7ae-1308-4637-8093-0be6594a5bc4", + "id": "c479b60d-c3e4-44d4-b0e5-c5891dd460ed", "type": "TumorSpecimen" }, - "issuedOn": "2025-07-04", + "method": { + "code": "PCR", + "display": "PCR", + "system": "dnpm-dip/mtb/msi/method" + }, + "value": 0.800039814642262, + "interpretation": { + "code": "msi-high", + "display": "MSI high", + "system": "dnpm-dip/mtb/msi/interpretation" + } + } + ], + "ngsReports": [ + { + "id": "76003d5a-8c9e-4587-8e39-d4c785d234ea", + "patient": { + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "type": "Patient" + }, + "specimen": { + "id": "c479b60d-c3e4-44d4-b0e5-c5891dd460ed", + "type": "TumorSpecimen" + }, + "issuedOn": "2025-07-09", "type": { - "code": "panel", - "display": "Panel", + "code": "genome-long-read", + "display": "Genome long-read", "system": "dnpm-dip/ngs/type" }, "metadata": [ @@ -621,13 +610,13 @@ ], "results": { "tumorCellContent": { - "id": "a504691e-c0c9-4d98-bbec-066ee9f2c53d", + "id": "a76fbe2c-7e89-4abe-af89-884d03fec74e", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "specimen": { - "id": "6abae7ae-1308-4637-8093-0be6594a5bc4", + "id": "c479b60d-c3e4-44d4-b0e5-c5891dd460ed", "type": "TumorSpecimen" }, "method": { @@ -635,36 +624,36 @@ "display": "Bioinformatisch", "system": "dnpm-dip/mtb/tumor-cell-content/method" }, - "value": 0.8558023090467324 + "value": 0.28954646267764894 }, "tmb": { - "id": "7c06ec00-53d2-48a8-8ddb-956c0a360e39", + "id": "1c94b024-1f8b-448a-a3d1-969b3e0cc9df", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "specimen": { - "id": "6abae7ae-1308-4637-8093-0be6594a5bc4", + "id": "c479b60d-c3e4-44d4-b0e5-c5891dd460ed", "type": "TumorSpecimen" }, "value": { - "value": 389586, + "value": 378485, "unit": "Mutations per megabase" }, "interpretation": { - "code": "high", - "display": "Hoch", + "code": "intermediate", + "display": "Mittel", "system": "dnpm-dip/mtb/ngs/tmb/interpretation" } }, "brcaness": { - "id": "069e55af-392a-4438-b9ec-b2173b963c73", + "id": "66a288cb-41c1-40c8-9c56-0c6bd351dc1d", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "specimen": { - "id": "6abae7ae-1308-4637-8093-0be6594a5bc4", + "id": "c479b60d-c3e4-44d4-b0e5-c5891dd460ed", "type": "TumorSpecimen" }, "value": 0.5, @@ -674,20 +663,20 @@ } }, "hrdScore": { - "id": "aefe7b46-319c-4a18-b8fc-9cda27aa2e29", + "id": "19947989-81e0-434b-a67e-efb465e3dce8", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "specimen": { - "id": "6abae7ae-1308-4637-8093-0be6594a5bc4", + "id": "c479b60d-c3e4-44d4-b0e5-c5891dd460ed", "type": "TumorSpecimen" }, - "value": 0.3444428804020617, + "value": 0.7088427690663931, "components": { - "lst": 0.1942866068404976, - "loh": 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"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:5173", - "display": "HRAS", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:34", - "display": "ABCA4", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:21597", - "display": "ACAD10", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:1753", - "display": "CDH13", - "system": "https://www.genenames.org/" - } - ] - }, - { - "id": "1a5bc7a1-637b-485d-a1bd-746b627b5873", - "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", - "type": "Patient" - }, - "chromosome": "chrY", + "chromosome": "chr7", "localization": [ { "code": "splicing-region", @@ -1929,18 +1167,23 @@ } ], "startRange": { - "start": 44181, - "end": 44223 + "start": 5174, + "end": 5216 }, "endRange": { - "start": 44392, - "end": 44442 + "start": 5568, + "end": 5618 }, "totalCopyNumber": 4, - "relativeCopyNumber": 0.34104993057095634, - "cnA": 0.4377954964659361, - "cnB": 0.44587277411147286, + "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", @@ -1952,28 +1195,8 @@ "system": "https://www.genenames.org/" }, { - "code": "HGNC:391", - "display": "AKT1", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:6407", - "display": "KRAS", - "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/" - }, - { - "code": "HGNC:9967", - "display": "RET", + "code": "HGNC:886", + "display": "ATRX", "system": "https://www.genenames.org/" }, { @@ -1982,8 +1205,8 @@ "system": "https://www.genenames.org/" }, { - "code": "HGNC:3942", - "display": "MTOR", + "code": "HGNC:34", + "display": "ABCA4", "system": "https://www.genenames.org/" }, { @@ -2000,8 +1223,13 @@ }, "copyNumberNeutralLoH": [ { - "code": "HGNC:25829", - "display": "ABRAXAS1", + "code": "HGNC:33", + "display": "ABCA3", + "system": "https://www.genenames.org/" + }, + { + "code": "HGNC:5173", + "display": "HRAS", "system": "https://www.genenames.org/" }, { @@ -2014,6 +1242,16 @@ "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", @@ -2023,56 +1261,36 @@ "code": "HGNC:6407", "display": "KRAS", "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/" } ] }, { - "id": "ad83ceec-57a3-4329-bc0b-f1b77ec37c8b", + "id": "67beb706-0870-470e-b6c1-bf28662a60f6", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, - "chromosome": "chr13", + "chromosome": "chr21", "localization": [ { - "code": "coding-region", - "display": "Coding region", + "code": "regulatory-region", + "display": "Regulatory region", "system": "dnpm-dip/variant/localization" } ], "startRange": { - "start": 35377, - "end": 35419 + "start": 46825, + "end": 46867 }, "endRange": { - "start": 35543, - "end": 35593 + "start": 47805, + "end": 47855 }, - "totalCopyNumber": 6, - "relativeCopyNumber": 0.25915585742763414, - "cnA": 0.29394604742259056, - "cnB": 0.4078421656729132, + "totalCopyNumber": 4, + "relativeCopyNumber": 0.667919646926896, + "cnA": 0.6344586287700189, + "cnB": 0.5935064515068115, "reportedAffectedGenes": [ - { - "code": "HGNC:33", - "display": "ABCA3", - "system": "https://www.genenames.org/" - }, { "code": "HGNC:6973", "display": "MDM2", @@ -2094,13 +1312,8 @@ "system": "https://www.genenames.org/" }, { - "code": "HGNC:21298", - "display": "AACS", - "system": "https://www.genenames.org/" - }, - { - "code": "HGNC:18615", - "display": "BRAFP1", + "code": "HGNC:3236", + "display": "EGFR", "system": "https://www.genenames.org/" }, { @@ -2114,13 +1327,18 @@ "system": "https://www.genenames.org/" }, { - "code": "HGNC:34", - "display": "ABCA4", + "code": "HGNC:9967", + "display": "RET", "system": "https://www.genenames.org/" }, { - "code": "HGNC:3942", - "display": "MTOR", + "code": "HGNC:21298", + "display": "AACS", + "system": "https://www.genenames.org/" + }, + { + "code": "HGNC:3689", + "display": "FGFR2", "system": "https://www.genenames.org/" } ], @@ -2132,10 +1350,64 @@ }, "copyNumberNeutralLoH": [ { - "code": "HGNC:33", - "display": "ABCA3", + "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", + "system": "https://www.genenames.org/" + }, + { + "code": "HGNC:6407", + "display": "KRAS", + "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/" + } + ] + }, + { + "id": "302808e8-25e5-44dd-bac1-1ec3bc901fca", + "patient": { + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "type": "Patient" + }, + "chromosome": "chr15", + "localization": [ + { + "code": "splicing-region", + "display": "splicing region", + "system": "dnpm-dip/variant/localization" + } + ], 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"BRAFP1", + "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:886", - "display": "ATRX", + "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/" + } + ], + "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:6973", + "display": "MDM2", + "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/" }, { @@ -2172,8 +1522,8 @@ "system": "https://www.genenames.org/" }, { - "code": "HGNC:3236", - "display": "EGFR", + "code": "HGNC:34", + "display": "ABCA4", "system": "https://www.genenames.org/" }, { @@ -2182,112 +1532,125 @@ "system": "https://www.genenames.org/" } ] + }, + { + "id": "251c4538-efd4-41cb-ac11-7aa6004b4546", + "patient": { + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "type": "Patient" + }, + "chromosome": "chr6", + "localization": [ + { + "code": "regulatory-region", + "display": "Regulatory region", + "system": "dnpm-dip/variant/localization" + } + ], + "startRange": { + "start": 10903, + "end": 10945 + }, + "endRange": { + "start": 11359, + "end": 11409 + }, + "totalCopyNumber": 7, + "relativeCopyNumber": 0.3329690143900391, + "cnA": 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"https://www.genenames.org/" - }, - "position": 343 - }, - "reportedNumReads": 4 - }, - { - "id": "2cdbcc31-9bd2-456f-91ec-8a754898b9dd", - "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", - "type": "Patient" - }, - "localization": [ - { - "code": "intergenic", - "display": "Intergenic", - "system": "dnpm-dip/variant/localization" - } - ], - "fusionPartner5prime": { - "chromosome": "chrMT", - "gene": { - "code": "HGNC:3690", - "display": "FGFR3", - "system": "https://www.genenames.org/" - }, - "position": 813 - }, - "fusionPartner3prime": { - "chromosome": "chr5", - "gene": { - "code": "HGNC:21298", - "display": "AACS", - "system": "https://www.genenames.org/" - }, - "position": 825 - }, - "reportedNumReads": 4 - }, - { - "id": "0ecdde1f-11ca-4a2d-b0e5-5a9edda324ec", - "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "localization": [ @@ -2298,105 +1661,31 @@ } ], "fusionPartner5prime": { - "chromosome": "chr2", + "chromosome": "chr19", "gene": { - "code": "HGNC:34", - "display": "ABCA4", + "code": "HGNC:21597", + "display": "ACAD10", "system": "https://www.genenames.org/" }, - "position": 745 + "position": 640 }, "fusionPartner3prime": { - "chromosome": "chr21", - "gene": { - "code": "HGNC:1777", - "display": "CDK6", - "system": "https://www.genenames.org/" - }, - "position": 783 - }, - "reportedNumReads": 6 - }, - { - "id": "d03b7a66-d9d0-4038-be62-22327425a688", - "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", - "type": "Patient" - }, - "localization": [ - { - "code": "intergenic", - "display": "Intergenic", - "system": "dnpm-dip/variant/localization" - } - ], - "fusionPartner5prime": { - "chromosome": "chr16", - "gene": { - "code": "HGNC:6973", - "display": "MDM2", - "system": "https://www.genenames.org/" - }, - "position": 396 - }, - "fusionPartner3prime": { - "chromosome": "chr14", - "gene": { - "code": "HGNC:886", - "display": "ATRX", - "system": 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[ - { - "id": "1607511973", - "system": "https://pubmed.ncbi.nlm.nih.gov", - "type": "Publication" - } - ] - }, - "category": [ - { - "code": "ZS", - "display": "zielgerichtete Substanzen", - "system": "dnpm-dip/mtb/recommendation/systemic-therapy/category" - } - ], - "medication": [ - { - "code": "L01XA01", - "display": "Cisplatin", - "system": "http://fhir.de/CodeSystem/bfarm/atc", - "version": "2025" - } - ], - "useType": { - "code": "unknown", - "display": "Unknown", - "system": "dnpm-dip/mtb/recommendation/systemic-therapy/use-type" - }, - "supportingVariants": [ - { - "variant": { - "id": "0ecdde1f-11ca-4a2d-b0e5-5a9edda324ec", - "type": "Variant" - }, - "gene": { - "code": "HGNC:34", - "display": "ABCA4", - "system": "https://www.genenames.org/" - } - } - ] - } - ], - "procedureRecommendations": [ - { - "id": "cb384a58-fda2-4dc2-9102-066a45c90834", - "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", - "type": "Patient" - }, - "reason": { - "id": "efa999e3-6006-4a76-90f9-32786b5f0531", - "display": "Bösartige Neubildung: Oberer innerer Quadrant der Brustdrüse", - "type": "MTBDiagnosis" - }, - "issuedOn": "2025-07-04", + "issuedOn": "2025-07-09", "priority": { "code": "3", "display": "3", @@ -2832,8 +2164,8 @@ }, "levelOfEvidence": { "grading": { - "code": "m2A", - "display": "m2A", + "code": "m2C", + "display": "m2C", "system": "dnpm-dip/mtb/level-of-evidence/grading" }, "addendums": [ @@ -2845,26 +2177,100 @@ ], "publications": [ { - "id": "102207002", + "id": "1525598879", + "system": "https://pubmed.ncbi.nlm.nih.gov", + "type": "Publication" + } + ] + }, + "category": [ + { + "code": "IM", + "display": "Immun-/Antikörpertherapie", + "system": "dnpm-dip/mtb/recommendation/systemic-therapy/category" + } + ], + "medication": [ + { + "code": "L01FX03", + "display": "Catumaxomab", + "system": "http://fhir.de/CodeSystem/bfarm/atc", + "version": "2025" + } + ], + "useType": { + "code": "compassionate", + "display": "Compassionate Use", + "system": "dnpm-dip/mtb/recommendation/systemic-therapy/use-type" + }, + "supportingVariants": [ + { + "variant": { + "id": "4093aaf4-b5a9-4a36-a027-bf3b4a313a6f", + "type": "Variant" + }, + "gene": { + "code": "HGNC:1753", + "display": "CDH13", + "system": "https://www.genenames.org/" + } + } + ] + } + ], + "procedureRecommendations": [ + { + "id": "57720dff-86a6-4795-9ac2-0942e50b8191", + "patient": { + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", + "type": "Patient" + }, + "reason": { + "id": "19de7fac-c8db-4936-b8fe-c47acda6599b", + "display": "Bösartige Neubildung: Sonstige und nicht näher bezeichnete Hirnnerven", + "type": "MTBDiagnosis" + }, + "issuedOn": "2025-07-09", + "priority": { + "code": "3", + "display": "3", + "system": "dnpm-dip/recommendation/priority" + }, + "levelOfEvidence": { + "grading": { + "code": "m2B", + "display": "m2B", + "system": "dnpm-dip/mtb/level-of-evidence/grading" + }, + "addendums": [ + { + "code": "R", + "display": "R", + "system": "dnpm-dip/mtb/level-of-evidence/addendum" + } + ], + "publications": [ + { + "id": "1386708679", "system": "https://pubmed.ncbi.nlm.nih.gov", "type": "Publication" } ] }, "code": { - "code": "AS", - "display": "Active Surveillance", + "code": "OP", + "display": "Operation", "system": "dnpm-dip/mtb/recommendation/procedure/category" }, "supportingVariants": [ { "variant": { - "id": "0ecdde1f-11ca-4a2d-b0e5-5a9edda324ec", + "id": "302808e8-25e5-44dd-bac1-1ec3bc901fca", "type": "Variant" }, "gene": { - "code": "HGNC:34", - "display": "ABCA4", + "code": "HGNC:11998", + "display": "TP53", "system": "https://www.genenames.org/" } } @@ -2873,59 +2279,59 @@ ], "studyEnrollmentRecommendations": [ { - "id": "f0434b14-e96e-4bbe-8566-a54c2eff5a78", + "id": "106ad35c-93c3-4c51-8da4-090489615969", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "reason": { - "id": "efa999e3-6006-4a76-90f9-32786b5f0531", - "display": "Bösartige Neubildung: Oberer innerer Quadrant der Brustdrüse", + "id": "19de7fac-c8db-4936-b8fe-c47acda6599b", + "display": "Bösartige Neubildung: Sonstige und nicht näher bezeichnete Hirnnerven", "type": "MTBDiagnosis" }, - "issuedOn": "2025-07-04", + "issuedOn": "2025-07-09", "levelOfEvidence": { "grading": { - "code": "m1B", - "display": "m1B", + "code": "m2C", + "display": "m2C", "system": "dnpm-dip/mtb/level-of-evidence/grading" }, "addendums": [ { - "code": "iv", - "display": "iv", + "code": "is", + "display": "is", "system": "dnpm-dip/mtb/level-of-evidence/addendum" } ], "publications": [ { - "id": "1217003103", + "id": "1525598879", "system": "https://pubmed.ncbi.nlm.nih.gov", "type": "Publication" } ] }, "priority": { - "code": "2", - "display": "2", + "code": "3", + "display": "3", "system": "dnpm-dip/recommendation/priority" }, "study": [ { - "id": "3064-809794-89-39", - "system": "Eudra-CT", + "id": "NCT69553088", + "system": "NCT", "type": "Study" } ], "supportingVariants": [ { "variant": { - "id": "03ab7f78-8f11-436a-a1ad-ac458a3d613e", + "id": "4093aaf4-b5a9-4a36-a027-bf3b4a313a6f", "type": "Variant" }, "gene": { - "code": "HGNC:21597", - "display": "ACAD10", + "code": "HGNC:1753", + "display": "CDH13", "system": "https://www.genenames.org/" } } @@ -2934,30 +2340,30 @@ ], "histologyReevaluationRequests": [ { - "id": "7e25cc52-876a-416e-968c-2fea1c4a03a9", + "id": "b6fdf1d5-4434-47e7-97d8-3a085f772a07", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "specimen": { - "id": "6abae7ae-1308-4637-8093-0be6594a5bc4", + "id": "c479b60d-c3e4-44d4-b0e5-c5891dd460ed", "type": "TumorSpecimen" }, - "issuedOn": "2025-07-04" + "issuedOn": "2025-07-09" } ], "rebiopsyRequests": [ { - "id": "b42a28e2-e70c-4655-ad01-627af908c2bc", + "id": "5317db9f-af34-403f-8084-bed8d7822df7", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "tumorEntity": { - "id": "efa999e3-6006-4a76-90f9-32786b5f0531", + "id": "19de7fac-c8db-4936-b8fe-c47acda6599b", "type": "MTBDiagnosis" }, - "issuedOn": "2025-07-04" + "issuedOn": "2025-07-09" } ], "notes": [ @@ -2967,216 +2373,104 @@ ], "followUps": [ { - "date": "2018-04-20", + "date": "2009-08-12", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, - "lastContactDate": "2018-04-20" + "lastContactDate": "2009-08-12" } ], "claims": [ { - "id": "9f09e4a3-c622-4592-88ae-16c54fc2ff4e", + "id": "d9d6e12f-46a2-4fe0-8aa8-1839a6bf22cb", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "recommendation": { - "id": "9900e072-eb7b-4653-a0b5-b34014969bd2", + "id": "55f1bead-15c6-4fd5-8aa8-ee4c9b2cb285", "type": "MTBMedicationRecommendation" }, - "issuedOn": "2025-07-04", + "issuedOn": "2025-07-09", "stage": { "code": "follow-up-claim", "display": "Folgeantrag", "system": "dnpm-dip/mtb/claim/stage" } - }, - { - "id": "60dfd2bb-bc0f-47f9-9210-8fe262645888", - "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", - "type": "Patient" - }, - "recommendation": { - "id": "49ba8a62-0798-4c4c-88cc-0afba7c2a56e", - "type": "MTBMedicationRecommendation" - }, - "issuedOn": "2025-07-04", - "stage": { - "code": "revocation", - "display": "Widerspruch", - "system": "dnpm-dip/mtb/claim/stage" - } } ], "claimResponses": [ { - "id": "277456cc-8214-4d57-89f9-5802a757ac67", + "id": "159caaab-9792-4004-993e-9c9410915a8a", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "claim": { - "id": "9f09e4a3-c622-4592-88ae-16c54fc2ff4e", + "id": "d9d6e12f-46a2-4fe0-8aa8-1839a6bf22cb", "type": "Claim" }, - "issuedOn": "2025-07-04", + "issuedOn": "2025-07-09", "status": { - "code": "accepted", - "display": "Angenommen", + "code": "unknown", + "display": "Unbekannt", "system": "dnpm-dip/mtb/claim-response/status" } - }, - { - "id": "64b09aaf-7596-4fee-8a12-359ac6b7e802", - "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", - "type": "Patient" - }, - "claim": { - "id": "60dfd2bb-bc0f-47f9-9210-8fe262645888", - "type": "Claim" - }, - "issuedOn": "2025-07-04", - "status": { - "code": "rejected", - "display": "Abgelehnt", - "system": "dnpm-dip/mtb/claim-response/status" - }, - "statusReason": [ - { - "code": "insufficient-evidence", - "display": "Nicht ausreichende Evidenz", - "system": "dnpm-dip/mtb/claim-response/status-reason" - } - ] } ], "systemicTherapies": [ { "history": [ { - "id": "6ac97a41-99a1-4a08-9db4-41a8698c7401", + "id": "f47600f1-9563-4964-b4db-1826faf01a52", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "reason": { - "id": "efa999e3-6006-4a76-90f9-32786b5f0531", - "display": "Bösartige Neubildung: Oberer innerer Quadrant der Brustdrüse", + "id": "19de7fac-c8db-4936-b8fe-c47acda6599b", + "display": "Bösartige Neubildung: Sonstige und nicht näher bezeichnete Hirnnerven", "type": "MTBDiagnosis" }, "intent": { - "code": "S", - "display": "Sonstiges", + "code": "K", + "display": "Kurativ", "system": "dnpm-dip/therapy/intent" }, "category": { - "code": "A", - "display": "Adjuvant", + "code": "N", + "display": "Neoadjuvant", "system": "dnpm-dip/therapy/category" }, "basedOn": { - "id": "9900e072-eb7b-4653-a0b5-b34014969bd2", + "id": "55f1bead-15c6-4fd5-8aa8-ee4c9b2cb285", "type": "MTBMedicationRecommendation" }, - "recordedOn": "2025-07-04", + "recordedOn": "2025-07-09", "status": { - "code": "stopped", - "display": "Abgebrochen", + "code": "on-going", + "display": "Laufend", "system": "dnpm-dip/therapy/status" }, - "statusReason": { - "code": "progression", - "display": "Progression", - "system": "dnpm-dip/therapy/status-reason" - }, "recommendationFulfillmentStatus": { - "code": "complete", - "display": "Komplett", + "code": "partial", + "display": "Partiell", "system": "dnpm-dip/therapy/recommendation-fulfillment-status" }, "dosage": { - "code": "under-50%", - "display": "< 50 %", + "code": "over-50%", + "display": ">= 50 %", "system": "dnpm-dip/therapy/dosage-density" }, "period": { - "start": "2018-02-23", - "end": "2018-05-25" + "start": "2009-04-29", + "end": "2009-10-21" }, "medication": [ { - "code": "L01EN02", - "display": "Pemigatinib", - "system": "http://fhir.de/CodeSystem/bfarm/atc", - "version": "2025" - } - ], - "notes": [ - "Notes on the therapy..." - ] - } - ] - }, - { - "history": [ - { - "id": "98847b9b-2e7c-44d2-aa6c-cf9f48e0136e", - "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", - "type": "Patient" - }, - "reason": { - "id": "efa999e3-6006-4a76-90f9-32786b5f0531", - "display": "Bösartige Neubildung: Oberer innerer Quadrant der Brustdrüse", - "type": "MTBDiagnosis" - }, - "intent": { - "code": "X", - "display": "Keine Angabe", - "system": "dnpm-dip/therapy/intent" - }, - "category": { - "code": "O", - "display": "Ohne Bezug zur operativen Therapie", - "system": "dnpm-dip/therapy/category" - }, - "basedOn": { - "id": "49ba8a62-0798-4c4c-88cc-0afba7c2a56e", - "type": "MTBMedicationRecommendation" - }, - "recordedOn": "2025-07-04", - "status": { - "code": "stopped", - "display": "Abgebrochen", - "system": "dnpm-dip/therapy/status" - }, - "statusReason": { - "code": "progression", - "display": "Progression", - "system": "dnpm-dip/therapy/status-reason" - }, - "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": "2017-10-27", - "end": "2018-05-25" - }, - "medication": [ - { - "code": "L01XA01", - "display": "Cisplatin", + "code": "L01FX03", + "display": "Catumaxomab", "system": "http://fhir.de/CodeSystem/bfarm/atc", "version": "2025" } @@ -3190,46 +2484,24 @@ ], "responses": [ { - "id": "98d80143-3ad2-4cfe-bf29-d04e73d78728", + "id": "5da70b0a-e683-4de8-8671-b6508f237fc9", "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", + "id": "fae56ea7-24a7-4556-82fb-2b5dde71bb4d", "type": "Patient" }, "therapy": { - "id": "6ac97a41-99a1-4a08-9db4-41a8698c7401", + "id": "f47600f1-9563-4964-b4db-1826faf01a52", "type": "MTBSystemicTherapy" }, - "effectiveDate": "2018-04-20", - "method": { - "code": "RECIST", - "display": "Nach RECIST-Kriterien", - "system": "dnpm-dip/mtb/response/method" - }, - "value": { - "code": "MR", - "display": "Mixed Response", - "system": "RECIST" - } - }, - { - "id": "f804a75c-d378-4eec-84c3-274fa20416bc", - "patient": { - "id": "644bae7a-56f6-4ee8-b02f-c532e65af5b1", - "type": "Patient" - }, - "therapy": { - "id": "98847b9b-2e7c-44d2-aa6c-cf9f48e0136e", - "type": "MTBSystemicTherapy" - }, - "effectiveDate": "2018-01-19", + "effectiveDate": "2009-08-12", "method": { "code": "RANO", "display": "Nach RANO-Kriterien", "system": "dnpm-dip/mtb/response/method" }, "value": { - "code": "PD", - "display": "Progressive Disease", + "code": "SD", + "display": "Stable Disease", "system": "RECIST" } } diff --git a/MV64e.MTB/Mtb.cs b/MV64e.MTB/Mtb.cs index 73b4a2f..907c4cd 100644 --- a/MV64e.MTB/Mtb.cs +++ b/MV64e.MTB/Mtb.cs @@ -48,6 +48,9 @@ namespace MV64e.MTB [JsonProperty("metadata", Required = Required.DisallowNull, NullValueHandling = NullValueHandling.Ignore)] public MvhMetadata Metadata { get; set; } + [JsonProperty("msiFindings", Required = Required.DisallowNull, NullValueHandling = NullValueHandling.Ignore)] + public List MsiFindings { get; set; } + [JsonProperty("ngsReports", Required = Required.DisallowNull, NullValueHandling = NullValueHandling.Ignore)] public List NgsReports { get; set; } @@ -1213,6 +1216,57 @@ namespace MV64e.MTB public string Version { get; set; } } + public partial class Msi + { + [JsonProperty("id", Required = Required.Always)] + public string Id { get; set; } + + [JsonProperty("interpretation", Required = Required.Always)] + public MsiInterpretationCoding Interpretation { get; set; } + + [JsonProperty("method", Required = Required.Always)] + public MsiMethodCoding Method { get; set; } + + [JsonProperty("patient", Required = Required.Always)] + public Reference Patient { get; set; } + + [JsonProperty("specimen", Required = Required.Always)] + public Reference Specimen { get; set; } + + [JsonProperty("value", Required = Required.Always)] + public double Value { get; set; } + } + + public partial class MsiInterpretationCoding + { + [JsonProperty("code", Required = Required.Always)] + public MsiInterpretationCodingCode Code { get; set; } + + [JsonProperty("display", Required = Required.DisallowNull, NullValueHandling = NullValueHandling.Ignore)] + public string Display { get; set; } + + [JsonProperty("system", Required = Required.DisallowNull, NullValueHandling = NullValueHandling.Ignore)] + public string System { get; set; } + + [JsonProperty("version", Required = Required.DisallowNull, NullValueHandling = NullValueHandling.Ignore)] + public string Version { get; set; } + } + + public partial class MsiMethodCoding + { + [JsonProperty("code", Required = Required.Always)] + public MsiMethodCodingCode Code { get; set; } + + [JsonProperty("display", Required = Required.DisallowNull, NullValueHandling = NullValueHandling.Ignore)] + public string Display { get; set; } + + [JsonProperty("system", Required = Required.DisallowNull, NullValueHandling = NullValueHandling.Ignore)] + public string System { get; set; } + + [JsonProperty("version", Required = Required.DisallowNull, NullValueHandling = NullValueHandling.Ignore)] + public string Version { get; set; } + } + public partial class Provision { [JsonProperty("date", Required = Required.Always)] @@ -2136,6 +2190,10 @@ namespace MV64e.MTB public enum MvhSubmissionType { Addition, Correction, Followup, Initial }; + public enum MsiInterpretationCodingCode { MmrDeficient, MmrProficient, MsiHigh, MsiLow, Stable, Unknown }; + + public enum MsiMethodCodingCode { Bioinformatic, Ihc, Pcr }; + public enum Chromosome { Chr1, Chr10, Chr11, Chr12, Chr13, Chr14, Chr15, Chr16, Chr17, Chr18, Chr19, Chr2, Chr20, Chr21, Chr22, Chr3, Chr4, Chr5, Chr6, Chr7, Chr8, Chr9, ChrX, ChrY, ChrMt }; public enum ExternalIdSystem { CancerSangerAcUkCosmic, EnsemblOrg, NcbiNlmNihGovEntrez, NcbiNlmNihGovSnp }; @@ -2229,6 +2287,8 @@ namespace MV64e.MTB ModelProjectConsentPurposeConverter.Singleton, ConsentProvisionConverter.Singleton, MvhSubmissionTypeConverter.Singleton, + MsiInterpretationCodingCodeConverter.Singleton, + MsiMethodCodingCodeConverter.Singleton, ChromosomeConverter.Singleton, ExternalIdSystemConverter.Singleton, BaseVariantLocalizationCodingCodeConverter.Singleton, @@ -4049,6 +4109,113 @@ namespace MV64e.MTB public static readonly MvhSubmissionTypeConverter Singleton = new MvhSubmissionTypeConverter(); } + internal class MsiInterpretationCodingCodeConverter : JsonConverter + { + public override bool CanConvert(Type t) => t == typeof(MsiInterpretationCodingCode) || t == typeof(MsiInterpretationCodingCode?); + + public override object ReadJson(JsonReader reader, Type t, object existingValue, JsonSerializer serializer) + { + if (reader.TokenType == JsonToken.Null) return null; + var value = serializer.Deserialize(reader); + switch (value) + { + case "mmr-deficient": + return MsiInterpretationCodingCode.MmrDeficient; + case "mmr-proficient": + return MsiInterpretationCodingCode.MmrProficient; + case "msi-high": + return MsiInterpretationCodingCode.MsiHigh; + case "msi-low": + return MsiInterpretationCodingCode.MsiLow; + case "stable": + return MsiInterpretationCodingCode.Stable; + case "unknown": + return MsiInterpretationCodingCode.Unknown; + } + throw new Exception("Cannot unmarshal type MsiInterpretationCodingCode"); + } + + public override void WriteJson(JsonWriter writer, object untypedValue, JsonSerializer serializer) + { + if (untypedValue == null) + { + serializer.Serialize(writer, null); + return; + } + var value = (MsiInterpretationCodingCode)untypedValue; + switch (value) + { + case MsiInterpretationCodingCode.MmrDeficient: + serializer.Serialize(writer, "mmr-deficient"); + return; + case MsiInterpretationCodingCode.MmrProficient: + serializer.Serialize(writer, "mmr-proficient"); + return; + case MsiInterpretationCodingCode.MsiHigh: + serializer.Serialize(writer, "msi-high"); + return; + case MsiInterpretationCodingCode.MsiLow: + serializer.Serialize(writer, "msi-low"); + return; + case MsiInterpretationCodingCode.Stable: + serializer.Serialize(writer, "stable"); + return; + case MsiInterpretationCodingCode.Unknown: + serializer.Serialize(writer, "unknown"); + return; + } + throw new Exception("Cannot marshal type MsiInterpretationCodingCode"); + } + + public static readonly MsiInterpretationCodingCodeConverter Singleton = new MsiInterpretationCodingCodeConverter(); + } + + internal class MsiMethodCodingCodeConverter : JsonConverter + { + public override bool CanConvert(Type t) => t == typeof(MsiMethodCodingCode) || t == typeof(MsiMethodCodingCode?); + + public override object ReadJson(JsonReader reader, Type t, object existingValue, JsonSerializer serializer) + { + if (reader.TokenType == JsonToken.Null) return null; + var value = serializer.Deserialize(reader); + switch (value) + { + case "IHC": + return MsiMethodCodingCode.Ihc; + case "PCR": + return MsiMethodCodingCode.Pcr; + case "bioinformatic": + return MsiMethodCodingCode.Bioinformatic; + } + throw new Exception("Cannot unmarshal type MsiMethodCodingCode"); + } + + public override void WriteJson(JsonWriter writer, object untypedValue, JsonSerializer serializer) + { + if (untypedValue == null) + { + serializer.Serialize(writer, null); + return; + } + var value = (MsiMethodCodingCode)untypedValue; + switch (value) + { + case MsiMethodCodingCode.Ihc: + serializer.Serialize(writer, "IHC"); + return; + case MsiMethodCodingCode.Pcr: + serializer.Serialize(writer, "PCR"); + return; + case MsiMethodCodingCode.Bioinformatic: + serializer.Serialize(writer, "bioinformatic"); + return; + } + throw new Exception("Cannot marshal type MsiMethodCodingCode"); + } + + public static readonly MsiMethodCodingCodeConverter Singleton = new MsiMethodCodingCodeConverter(); + } + internal class ChromosomeConverter : JsonConverter { public override bool CanConvert(Type t) => t == typeof(Chromosome) || t == typeof(Chromosome?);