Genomic analysis and biomarker discovery of thymic cancer based on whole exome sequencing: A retrospective cohort study
- VernacularTitle:基于全外显子组测序的胸腺癌基因组分析和生物标志物探索的回顾性队列研究
- Author:
Run XIANG
1
;
Shaohua XIE
1
;
Qiong LIAO
2
;
Qiang LI
1
;
Weikang SHAO
3
;
Juan LI
4
Author Information
1. Department of Thoracic Surgery, Sichuan Clinical Research Center for Cancer, Sichuan Cancer Hospital & Institute, Sichuan Cancer Center, Affiliated Cancer Hospital of University of Electronic Science and Technology of China, Chengdu, 610041, P. R. China
2. Department of Pathology, Sichuan Clinical Research Center for Cancer, Sichuan Cancer Hospital & Institute, Sichuan Cancer Center, Affiliated Cancer Hospital of University of Electronic Science and Technology of China, Chengdu, 610041, P. R. China
3. Genecast Biotechnology Co., Ltd., Wuxi, 214000, Jiangsu, P. R. China
4. Department of Medical Oncology, Sichuan Clinical Research Center for Cancer, Sichuan Cancer Hospital & Institute, Sichuan Cancer Center, Affiliated Cancer Hospital of University of Electronic Science and Technology of China, Chengdu, 610041, P. R. China Corresponding author: LI Juan, Email: dr.lijuan@hotmail.com
- Publication Type:Journal Article
- Keywords:
Thymic carcinoma;
gene mutation;
whole-exome sequencing;
retrospective cohort study
- From:
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery
2024;31(02):288-303
- CountryChina
- Language:Chinese
-
Abstract:
Objective To examined gene mutations in thymic carcinoma (TC) patients and to explore prognostic correlates and potential targets for therapy. Methods We retrospectively included TC patients in Sichuan Cancer Hospital between January 2015 and Febuary 2021.Whole-exome sequencing was performed on tumor tissues from TC patients and their control peripheral blood samples, and the raw data were subjected to bioinformatics analysis and statistical analysis. Results We finally included 24 TC patients with 16 males and 8 females at a median age of 55 (42-74) years. The highest frequency of single nucleotide mutations in this cohort were in the TTN gene (42%), HSPG2 (29%), and OBSCN (29%). Higher frequency of copy number variations occurred in ZNF276 gene (54%, loss), BEND3 (50%, loss), DHODH (50%, loss), and VAC14 (50%, loss). Microsatellite instability (MSI) phenotype was found in 25% of the patients, and the mean tumor mutation burden (TMB) was 9.86. Conclusion This study is the first comprehensive analysis of the mutation profile of thymic carcinoma in China to date. The mutation frequencies of TTN, OBSCN, and ZNF276 genes were high. The biomarker analysis suggests that patients may benefit from immunotherapy and have a long effective survival.
