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Next-generation sequencing in thymic epithelial tumors uncovered novel genomic aberration sites and strong correlation between TMB and MSH6 single nucleotide variations.

Authors
  • Chen, Kai1
  • Che, Jiaming1
  • Zhang, Xianfei1
  • Jin, Runsen1
  • Xiang, Jie1
  • Han, Dingpei1
  • Sun, Yonghua2
  • Gong, Ziying3
  • Zhang, Daoyun4
  • Li, Hecheng5
  • 1 Department of Thoracic Surgery, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, 197 Rui Jin Er Road, Shanghai, 200025, China. , (China)
  • 2 Shanghai YunYing Medical Technology CO., LTD, Shanghai, 201600, China. , (China)
  • 3 Shanghai YunYing Medical Technology CO., LTD, Shanghai, 201600, China. Electronic address: [email protected] , (China)
  • 4 Shanghai YunYing Medical Technology CO., LTD, Shanghai, 201600, China. Electronic address: [email protected] , (China)
  • 5 Department of Thoracic Surgery, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, 197 Rui Jin Er Road, Shanghai, 200025, China. Electronic address: [email protected] , (China)
Type
Published Article
Journal
Cancer letters
Publication Date
Apr 28, 2020
Volume
476
Pages
75–86
Identifiers
DOI: 10.1016/j.canlet.2020.02.001
PMID: 32061754
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Thymic epithelial tumors (TET) including thymomas and thymic carcinomas are rare, but they are common primary tumors in the anterior mediastinum. The etiology and tumorigenesis of TET remain unclear. To better understand the novel aberrations of this rare tumor and provide more significant mutation sites for targeted therapy, we performed next-generation sequencing detection on 55 patients with TET. Our results showed that most genes in 12 core pathways harbored aberrations of indeterminate potential. In 4 genes (ARID1A, KMT2C, TGFBR2 and MAP3K1), the indel frequency was above 90%. Dozens of genes, including TGFBR2, KMT2C, PRKDC, ATR, CHD2, SDHA, KDM5A, CHEK1, MSH6 and POLE, possessed frameshift indel with different frequencies in different hotspot sites, which could be the new targets of therapy for TET. For the first time, we revealed a strong correlation between the tumor mutational burden and single nucleotide variations, but not frameshift, on DNA mismatch repair gene MSH6 in TET. Copyright © 2020 Elsevier B.V. All rights reserved.

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