دورية أكاديمية
Molecular profiling of soft-tissue sarcomas with FoundationOne Heme identifies potential targets for sarcoma therapy: a single-centre experience
| العنوان: | Molecular profiling of soft-tissue sarcomas with FoundationOne Heme identifies potential targets for sarcoma therapy: a single-centre experience |
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| المؤلفون: | Susanne Scheipl, Iva Brcic, Tina Moser, Stefan Fischerauer, Jakob Riedl, Marko Bergovec, Maria Smolle, Florian Posch, Armin Gerger, Martin Pichler, Herbert Stoeger, Andreas Leithner, Ellen Heitzer, Bernadette Liegl-Atzwanger, Joanna Szkandera |
| المصدر: | Therapeutic Advances in Medical Oncology, Vol 13 (2021) |
| بيانات النشر: | SAGE Publishing, 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Neoplasms. Tumors. Oncology. Including cancer and carcinogens |
| مصطلحات موضوعية: | Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282 |
| الوصف: | 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. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1758-8359 17588359 |
| Relation: | https://doaj.org/toc/1758-8359 |
| DOI: | 10.1177/17588359211029125 |
| URL الوصول: | https://doaj.org/article/ce9c0db0b0b848cfa33d6e6474e88316 |
| رقم الأكسشن: | edsdoj.9c0db0b0b848cfa33d6e6474e88316 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 17588359 |
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| DOI: | 10.1177/17588359211029125 |