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Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab 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
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- Leading authors Med Uni Graz
- Liegl-Atzwanger Bernadette
- Scheipl Susanne
- Co-authors 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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- Abstract:
- 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