Open Access

Potential application of genomic profiling for the diagnosis and treatment of patients with sarcoma

  • Authors:
    • Libin Xu
    • Xianbiao Xie
    • Xiaoliang Shi
    • Peng Zhang
    • Angen Liu
    • Jian Wang
    • Bo Zhang
  • View Affiliations

  • Published online on: March 4, 2021     https://doi.org/10.3892/ol.2021.12614
  • Article Number: 353
  • Copyright: © Xu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

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.
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May-2021
Volume 21 Issue 5

Print ISSN: 1792-1074
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Copy and paste a formatted citation
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Spandidos Publications style
Xu L, Xie X, Shi X, Zhang P, Liu A, Wang J and Zhang B: Potential application of genomic profiling for the diagnosis and treatment of patients with sarcoma. Oncol Lett 21: 353, 2021
APA
Xu, L., Xie, X., Shi, X., Zhang, P., Liu, A., Wang, J., & Zhang, B. (2021). Potential application of genomic profiling for the diagnosis and treatment of patients with sarcoma. Oncology Letters, 21, 353. https://doi.org/10.3892/ol.2021.12614
MLA
Xu, L., Xie, X., Shi, X., Zhang, P., Liu, A., Wang, J., Zhang, B."Potential application of genomic profiling for the diagnosis and treatment of patients with sarcoma". Oncology Letters 21.5 (2021): 353.
Chicago
Xu, L., Xie, X., Shi, X., Zhang, P., Liu, A., Wang, J., Zhang, B."Potential application of genomic profiling for the diagnosis and treatment of patients with sarcoma". Oncology Letters 21, no. 5 (2021): 353. https://doi.org/10.3892/ol.2021.12614