Genetic profiling provides potential new biomarkers for sarcoma

Next-generation sequencing may provide new biomarkers for sarcoma in addition to guiding a more precise therapeutic approach for bone and soft-tissue sarcomas, according to a study.

Samples taken from 199 patients with sarcomas, TP53 (39.70%), CDKN2A (19.10%), CDKN2B (15.08%), KIT (14.07%), ATRX (10.05%) and RB1 (10.05%) were the most commonly identified mutated genes.

Of the 64 soft-tissue sarcomas that were unclassified by immunohistochemistry, 23.44% were classified using next-generation sequencing.

There was a significant association with sex was detected in leiomyosarcomas. Osteosarcoma, Ewing’s sarcoma, gastrointestinal stromal tumors, and liposarcoma were all significantly associated with age. Angiosarcoma was significantly associated with high tumor mutational burden.

Serially mutated genes associated with myxofibrosarcoma, gastrointestinal stromal tumor, osteosarcoma, liposarcoma, leiomyosarcoma, synovial sarcoma and Ewing’s sarcoma were identified, as well as neurotrophic tropomyosin-related kinase (NTRK) fusions of IRF2BP2-NTRK1, MEF2A-NTRK3 and ITFG1-NTRK3.

Reference
Xu L, Xie X, Shi X, et al. Potential application of genomic profiling for the diagnosis and treatment of patients with sarcoma. Oncol Lett. 2021;21(5):353. doi: 10.3892/ol.2021.12614.