Analysis of gene mutation profile of adult soft tissue sarcomas using high-throughput sequencing technology
10.3760/cma.j.cn112152-20200425-00378
- VernacularTitle:应用高通量测序技术分析成人软组织肉瘤的基因变异情况
- Author:
Songfeng XU
1
;
Wenwei WANG
;
Jun CHEN
;
Ting LIU
;
Xinxin ZHANG
;
Libin XU
;
Zhenguo ZHAO
;
Shengji YU
;
Lixia GUO
Author Information
1. 国家癌症中心 国家肿瘤临床医学研究中心 中国医学科学院北京协和医学院肿瘤医院骨科 100021
- Keywords:
Soft tissue sarcoma;
Gene mutation;
High-throughput sequencing;
Personalized treatment
- From:
Chinese Journal of Oncology
2020;42(9):741-745
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To understand the genetic variation of soft tissue sarcomas, and to provide a scientific evidence for the individualized treatment.Methods:The somatic mutation and germline mutation of 45 adult soft tissue sarcomas had been detected by high-throughput sequencing technology, the clinical data were also analyzed.Results:A total of 88 gene mutations were detected in 45 samples, including 78 single nucleotide variation (SNV), 13 insertion/deletion (Indel) and 19 copy number variation (CNV). The most common mutant genes are TP53, CDKN2A, MDM2, CDK4, NF1 and PTEN. Among them, the mutation rates of TP53-MDM2/MDM4-CDKN2A pathway, CDKN2A/CDK4/RB1 pathway, and RAS/NF1/PTEN/PI3K pathway were more frequent (32/88, 36%). In terms of immunotherapy biomarkers among 10 samples, the median value of tumor mutation burden was 2.02 muts/Mb (0-4.24 muts/Mb), and all were microsatellite stable.Conclusions:This study analyzes the genetic variation of soft tissue sarcoma, and determines the high-frequency gene mutations and pathways, which may be the potential drug targets. This finding can provide scientific evidences for the personalized treatment of soft tissue sarcoma.
