Klinische Anwendungsbeispiele einer Next-Generation-Sequencing-basierten Multi-Genpanel-Analyse

Zusammenfassung

Dieser Übersichtsartikel bietet einen Überblick über klinisch sinnvolle Anwendungsgebiete einer Next-Generation-Sequencing-basierten (NGS) Multi-Genpanel-Teststrategie in den Bereichen Onkologie, hereditärer Tumorsyndrome und Hämatologie. Bei soliden Tumoren (z.B. Lungenkarzinom, Kolonrektalkarzinom) trägt die Detektion somatischer Mutationen nicht nur zu einer besseren diagnostischen, sondern auch therapeutischen Stratifizierung der Betroffenen bei. Die zunehmende genetische Komplexität hereditärer Tumorsyndrome (z.B. Brust- und Ovarialkarzinom, Lynchsyndrom/Polypose) erfordert in betroffenen Familien eine Multi-Genpanel-Analyse von Keimbahnmutationen. Ein weiteres sinnvolles Indikationsgebiet einer Multi-Genpanel-Diagnostik und Prognoseabschätzung sind akute und chronische myeloische Erkrankungen. Die Kriterien der WHO-Klassifikation und des „European LeukemiaNet“-Prognosesystems der akuten myeloischen Leukämie können nur durch eine Multi-Genpanel-Teststrategie erfüllt werden.

Abstract

This review provides an overview of clinically useful applications of a next-generation sequencing (NGS)-based multi-gene panel testing strategy in the areas of oncology, hereditary tumor syndromes, and hematology. In the case of solid tumors (e.g. lung carcinoma, colon-rectal carcinoma), the detection of somatic mutations contributes not only to a better diagnostic but also therapeutic stratification of those affected. The increasing genetic complexity of hereditary tumor syndromes (e.g. breast and ovarian carcinoma, lynch syndrome/polyposis) requires a multi-gene panel analysis of germline mutations in affected families. Another useful indication for a multi-gene panel diagnostics and prognosis assessment are acute and chronic myeloid diseases. The criteria of the WHO-classification and the European LeukemiaNet-prognosis system for acute myeloid leukemia can only be met by a multi-gene panel test strategy.

Kernaussagen

• Eine zielgerichtete, NGS-basierte (Next Generation Sequencing) Multi-Genpanel-Analyse mit der Selektion von klinisch relevanten Genen kann sinnvoll in der Onkologie, bei hereditären Tumorsyndromen und bei hämatologischen Grunderkrankungen eingesetzt werden.

• Kommerziell erhältliche und für den Anwender maßgeschneiderte NGS-Panels ermöglichen bei soliden Tumoren (z.B. Lungenkarzinomen, gastrointestinalen Tumoren) eine exakte Identifizierung von somatischen Mutationen und tragen damit zu einer besseren prognostischen und therapeutischen Einschätzung der Grunderkrankung bei.

• Die differenzialdiagnostische Abklärung von Keimbahnmutationen bei genetisch zunehmend komplexeren, angeborenen Tumorsyndromen (z.B. hereditäres Brust- und Ovarialkarzinom-Syndrom, Lynch-Syndrom und Polypose) durch eine NGS-basierte Multi-Panel-Diagnostik hat sich in der Routinediagnostik bewährt.

• Der Einsatz der NGS-Multi-Genpanel-Analyse im Bereich der Hämatologie (z.B. bei akuten und myeloischen Erkrankungen) ermöglicht eine diagnostische, prognostische und in Verlaufskontrollen detektierbare Veränderung des molekulargenetischen Profils der jeweiligen Grunderkrankung.

Schlüsselwörter

Next-Generation-Sequencing - Multi-Genpanel - Onkologie - hereditäre Tumorsyndrome - Hämatologie

Keywords

Next-generation sequencing - targeted sequencing - oncology - hereditary tumor syndromes - hematology

Publication History

Article published online:
31 July 2023

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