loading page

Landscape of IDH1/2 mutations in Chinese patients with solid tumors: a pan-cancer analysis
  • +9
  • Dong Shen,
  • Junling Zhang,
  • Kai Yuan,
  • Jing Zhao,
  • Zhengyi Zhao,
  • Longgang Cui,
  • Yuzi Zhang,
  • Guoqiang Wang,
  • Shangli Cai,
  • Yuezong Bai,
  • xiang huang,
  • Wei Li
Dong Shen
The Jiangyin Clinical College of Xuzhou Medical University
Author Profile
Junling Zhang
3D Medicines Inc.
Author Profile
Kai Yuan
The Affiliated Changzhou No. 2 People's Hospital of Nanjing Medical University
Author Profile
Jing Zhao
3D Medicines Inc.
Author Profile
Zhengyi Zhao
3D Medicines Inc.
Author Profile
Longgang Cui
3D Medicines Inc.
Author Profile
Yuzi Zhang
3D Medicines Inc.
Author Profile
Guoqiang Wang
3D Medicines Inc.
Author Profile
Shangli Cai
3D Medicines Inc.
Author Profile
Yuezong Bai
3D Medicines Inc.
Author Profile
xiang huang
Jiangsu Province People's Hospital and Nanjing Medical University First Affiliated Hospital
Author Profile
Wei Li
Jiangsu Province People's Hospital and Nanjing Medical University First Affiliated Hospital
Author Profile

Abstract

Isocitrate dehydrogenase (IDH) is an enzyme family involved in cell aerobic metabolism of tricarboxylic acid cycle. However, the landscape of IDH mutations in pan-cancer has not been fully characterized. Tissue or blood samples were subjected to next-generation sequencing (NGS) for detection the IDH mutation. A total of 28.868 patients from more than 20 solid tumor species were analyzed. 374 cases (1.30%) with IDH mutations were identified. Among all the IDH mutations cases, 80 (21.4%) were biliary tract cancer, 80 (21.4%) were lung cancer, 57 (15.2%) were liver cancer and 42 (11.2%) were colorectal cancer. The most common IDH variant were IDH1 and IDH2 which were discovered in 0.81% cases and 0.47% cases, respectively. TP53, PBRM1 and BAP1 were the most significantly mutated genes in biliary tract cancer which were different from others cancer. Moreover TMB were significantly higher in lung cancer, colorectal cancer and gastric cancer than biliary tract cancer (p= 0.0164, p <0.0001, p= 0.0067, respectively) and biliary tract cancer patients with IDH mutation had lower TMB compared with wild-type IDH. Somatic IDH mutation was found in multiple solid tumors and IDH would be a driver gene in biliary tract cancer.