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

Dietmar Enko; Erich Schaflinger; Daniel J. Müller

doi:10.1055/a-2033-5329

DMW - Deutsche Medizinische Wochenschrift, Table of Contents

Dtsch Med Wochenschr 2023; 148(11): 695-702
DOI: 10.1055/a-2033-5329

Review

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

Clinical Application Examples of a Next-Generation Sequencing based Multi-Genepanel Analysis

Authors

Dietmar Enko

¹Medizinische Universität Graz Klinisches Institut für Medizinische und Chemische Labordiagnostik, Graz, Austria
Erich Schaflinger

²Institut für Humangenetik, Medizinische Universität Graz, Neue Stiftingtalstraße 2, 8010 Graz, Austria,
Daniel J. Müller

³Klinisches Institut für Pharmakogenetische Wissenschaft, Cambell Family Mental Health Research Institute, Zentrum für Suchtkrankheit und psychische Gesundheit, College Street 250, Toronto, ON M5T 1R8, Toronto, Kanada,

Abstract

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.

Schlüsselwörter

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

Keywords

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

Full Text

References

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