[Analysis of gene mutation profile of adult soft tissue sarcomas using high-throughput sequencing technology].
Zhonghua Zhong Liu Za Zhi
; 42(9): 741-745, 2020 Sep 23.
Article
em Zh
| MEDLINE
| ID: mdl-32988156
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Sarcoma
/
Variações do Número de Cópias de DNA
/
Mutação
Limite:
Adult
/
Humans
Idioma:
Zh
Ano de publicação:
2020
Tipo de documento:
Article