Landscape of IDH1/2 mutations in Chinese patients with solid tumors: a
pan-cancer analysis
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.