Analysis of cell mutation types of colorectal neuroendocrine tumors

VernacularTitle:结直肠神经内分泌肿瘤细胞突变类型分析
Author: Tingting WANG ¹ ; Dan GUO ; Junyang LU ; Lai XU ; Haitao DONG ; Dianxin LIN ; Yi XIAO
Author Information

1. 中国医学科学院北京协和医学院北京协和医院医学科学研究中心,北京 100730;中国医学科学院北京协和医学院北京协和医院临床生物样本库,北京 100730
Keywords: colorectal neuroendocrine tumors; single nucleotide mutations; insertion and deletion mutations; copy number varia-tions; structural variations
From: Basic & Clinical Medicine 2024;44(4):523-527
CountryChina
Language:Chinese
Abstract: Objective To investigate the mutation types of colorectal neuroendocrine tumors(NETs)and better un-derstand the pathogenesis of colorectal nets.Methods Patients undergoing colorectal NETs surgery were recruited,colorectal NETs and corresponding adjacent cancerous tissues were collected,and whole genome sequencing(WGS)was performed and further deeply analyzed.Results WGS sequencing showed that the mutation types of colorectal NETs included single nucleotide mutations,insertion and deletion mutations(InDel,less than 50 bp in length),copy number variations(CNV),and large structural variations(SV,more than 50 bp in length),such as insertion(INS),deletion(DEL),intra chromosomal translocation(ITX),inter chromosomal translocation(CTX)and inversion(INV).Conclusions A large number of somatic mutations occur in colorectal NETs,especially chro-mosome translocation