TY - JOUR AB - Sarcomas represent a heterogeneous group of mesenchymal malignancies arising at various locations in the soft tissue and bone. Though a rare disease, sarcoma affects ~200,000 patients worldwide every year. The prognosis of patients with sarcoma is poor, and targeted therapy options are limited; therefore, accurate diagnosis and classification are essential for effective treatment. Sarcoma samples were acquired from 199 patients, in which TP53 (39.70%, 79/199), CDKN2A (19.10%, 38/199), CDKN2B (15.08%, 30/199), KIT (14.07%, 28/199), ATRX (10.05%, 20/199) and RB1 (10.05%, 20/199) were identified as the most commonly mutated genes (>10% incidence). Among 64 soft‑tissue sarcomas that were unclassified by immunohistochemistry, 15 (23.44%, 15/64) were subsequently classified using next‑generation sequencing (NGS). For the most part, the sarcoma subtypes were evenly distributed between male and female patients, while a significant association with sex was detected in leiomyosarcomas. Statistical analysis showed that osteosarcoma, Ewing's sarcoma, gastrointestinal stromal tumors and liposarcoma were all significantly associated with the patient age, and that angiosarcoma was significantly associated with high tumor mutational burden. Furthermore, 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. Collectively, the results of the present study suggest that NGS‑targeting provides potential new biomarkers for sarcoma diagnosis, and may guide more precise therapeutic strategies for patients with bone and soft‑tissue sarcomas. AD - Department of Orthopedic Surgery, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, P.R. China Department of Musculoskeletal Oncology, The First Affiliated Hospital of Sun Yat Sen University, Guangzhou, Guangdong 510080, P.R. China OrigiMed Co. Ltd., Shanghai 201114, P.R. China Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai 200032, P.R. China Department of Pathology, Peking University Third Hospital, Beijing 100191, P.R. China AU - Xu,Libin AU - Xie,Xianbiao AU - Shi,Xiaoliang AU - Zhang,Peng AU - Liu,Angen AU - Wang,Jian AU - Zhang,Bo DA - 2021/05/01 DO - 10.3892/ol.2021.12614 IS - 5 JO - Oncol Lett KW - sarcoma diagnosis next‑generation sequencing genomic profiling tumor mutational burden biomarker PY - 2021 SN - 1792-1074 1792-1082 SP - 353 ST - Potential application of genomic profiling for the diagnosis and treatment of patients with sarcoma T2 - Oncology Letters TI - Potential application of genomic profiling for the diagnosis and treatment of patients with sarcoma UR - https://doi.org/10.3892/ol.2021.12614 VL - 21 ER -