Ultra-mutated colorectal cancer patients with POLE driver mutations exhibit distinct clinical patterns.
作者： Hanguang Hu , Wen Cai , Dehao Wu , Wangxiong Hu , Li Dong Wang
DOI: 10.1002/CAM4.3579
关键词:
摘要: POLE mutations, which lead to an ultramutated phenotype in colorectal cancer (CRC), have been reported as a promising marker immunotherapy. We performed sequencing of CRC cases Zhejiang University (ZJU) and extracted obtainable data from recently published results, including The Cancer Genome Atlas (TCGA), Japanese studies clinical trials, present patterns driver-mutated reveal its heterogeneity. rate somatic driver mutations has 2.60% (ZJU cohort), 1.50% (TCGA 1.00% (Japan (Lancet cohort). show clearly increased mutation burden (mean TMB: 217.98 mut/Mb ZJU; 203.13 TCGA). Based on pooled data, more than 70.00% patients with were diagnosed before they 55 years old at early disease stage (Stage 0-II >70.00%), male. Among Asian patients, 68.40% developed the left-side colon, whereas 64.00% non-Asian them right-side colon (p < 0.01). top three amino acid changes due are P286R, V411L, S459F. Investigators physicians should ascertain heterogeneity be better equipped design trials analyze data.
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