• Dtsch. Med. Wochenschr. · Jun 2023

    Review

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

    • Dietmar Enko, Erich Schaflinger, and Daniel J Müller.
    • Medizinische Universität Graz Klinisches Institut für Medizinische und Chemische Labordiagnostik, Graz, Austria.
    • Dtsch. Med. Wochenschr. 2023 Jun 1; 148 (11): 695702695-702.

    AbstractThis 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.Thieme. All rights reserved.

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