Profiling of gene fusion involving targetable genes in Chinese gastric cancer
Year: 2022
Type: article
Study design: Observational Study
Abstract: BACKGROUND: fusion-positive cancers. However, gene fusions involving targetable genes have not been well characterized in Chinese patients with GC. AIM: To identify the profile of fusions involving targetable genes in Chinese patients with GC using clinical specimens and determine the distribution of patients with gene fusion variants among the molecular subtypes of GC. METHODS: We retrospectively analyzed gene fusion events in tumor tissue samples from 954 Chinese patients with GC. Clinicopathological characteristics were obtained from their medical records. Genetic alterations, such as single nucleotide variants, indels, amplifications, and gene fusions, were identified using a targeted sequencing panel containing 825 genes. Fusions were validated by fluorescence in situ hybridization (FISH) using break-apart probes. The microsatellite instability (MSI) status was evaluated using MSIsensor from the targeted sequencing panel data. Tumor mutational burden (TMB) was calculated using the total number of nonsynonymous mutations divided by the total genomic targeted region. Chi-square analysis was used to determine the enrichment of gene fusions associated with the molecular subtypes of GC. RESULTS: = 0.02); however, there were no significant differences between fusion-positive and fusion-negative patients in age, sex, MSI status, and TMB. CONCLUSION: amplification. Gene fusion detection may provide a potential treatment strategy for patients with GC with disease progression following standard therapy.
Authors: Zhen-Hua Liu, Bo-Wen Zhu, Min Shi, Yu-Rong Qu, Xun-Jun He, Hong-Ling Yuan, Jie Ma, Wei Li, Dan-Dan Zhao, Zheng-Chuang Liu, Bao-Ming Wang, Chun-Yang Wang, Hou-Quan Tao, Tong-Hui Ma
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4293999070