Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz

Gewählte Publikation:

SHR Neuro Krebs Kardio Lipid Stoffw Microb

Scheipl, S; Brcic, I; Moser, T; Fischerauer, S; Riedl, J; Bergovec, M; Smolle, M; Posch, F; Gerger, A; Pichler, M; Stoeger, H; Leithner, A; Heitzer, E; Liegl-Atzwanger, B; Szkandera, J.
Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.
Ther Adv Med Oncol. 2021; 13:17588359211029125 Doi: 10.1177/17588359211029125 [OPEN ACCESS]
Web of Science PubMed PUBMED Central FullText FullText_MUG


Führende Autor*innen der Med Uni Graz
Liegl-Atzwanger Bernadette
Scheipl Susanne
Co-Autor*innen der Med Uni Graz
Bergovec Marko
Brcic Iva
Fischerauer Stefan Franz
Gerger Armin
Heitzer Ellen
Leithner Andreas
Moser Tina
Pichler Martin
Posch Florian
Riedl Jakob
Smolle Maria Anna
Stöger Herbert
Szkandera Joanna

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Background: Molecular diagnosis has become an established tool in the characterisation of adult soft-tissue sarcomas (STS). FoundationOne® Heme analyses somatic gene alterations in sarcomas via DNA and RNA-hotspot sequencing of tumour-associated genes. Methods: We evaluated FoundationOne® Heme testing in 81 localised STS including 35 translocation-associated and 46 complex-karyotyped cases from a single institution. Results: Although FoundationOne® Heme achieved broad patient coverage and identified at least five genetic alterations in each sample, the sensitivity for fusion detection was rather low, at 42.4%. Nevertheless, potential targets for STS treatment were detected using the FoundationOne® Heme assay: complex-karyotyped sarcomas frequently displayed copy-number alterations of common tumour-suppressor genes, particularly deletions in TP53, NF1, ATRX, and CDKN2A. A subset of myxofibrosarcomas (MFS) was amplified for HGF (n = 3) and MET (n = 1). PIK3CA was mutated in 7/15 cases of myxoid liposarcoma (MLS; 46.7%). Epigenetic regulators (e.g. MLL2 and MLL3) were frequently mutated. Conclusions: In summary, FoundationOne® Heme detected a broad range of genetic alterations and potential therapeutic targets in STS (e.g. HGF/MET in a subset of MFS, or PIK3CA in MLS). The assay's sensitivity for fusion detection was low in our sample and needs to be re-evaluated in a larger cohort.

Find related publications in this database (Keywords)
complex karyotype
FoundationOne (R) Heme
next-generation sequencing
soft-tissue sarcoma
targeted therapy
translocation-associated sarcoma
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