Analysis of cell mutation types of colorectal neuroendocrine tumors

doi:10.16352/j.issn.1001-6325.2024.04.0523

Basic & Clinical Medicine ›› 2024, Vol. 44 ›› Issue (4): 523-527.doi: 10.16352/j.issn.1001-6325.2024.04.0523

• Clinical Sciences • Previous Articles Next Articles

Analysis of cell mutation types of colorectal neuroendocrine tumors

WANG Tingting^1,2, GUO Dan^1,2, LU Junyang³, XU Lai³, DONG Haitao⁴, LIN Dianxin⁵, XIAO Yi^3*

1. Medical Research Center Peking Union Medical College Hospital, CAMS & PUMC, Beijing 100730;
2. Clinical Biobank Peking Union Medical College Hospital, CAMS & PUMC, Beijing 100730;
3. Department of General Surgery Peking Union Medical College Hospital, CAMS & PUMC, Beijing 100730;
4. Department of Stomatology Peking Union Medical College Hospital, CAMS & PUMC, Beijing 100730;
5. Department of Medicine, Laiwu Iron and Steel Group Laikuang Hospital, Jinan 271100, China

Received:2023-07-31 Revised:2024-01-25 Online:2024-04-05 Published:2024-03-25
Contact: ^*xiaoy@pumch.cn

Abstract

Abstract: Objective To investigate the mutation types of colorectal neuroendocrine tumors(NETs) and better understand 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 chromosome translocation

Key words: colorectal neuroendocrine tumors, single nucleotide mutations, insertion and deletion mutations, copy number variations, structural variations

CLC Number:

WANG Tingting, GUO Dan, LU Junyang, XU Lai, DONG Haitao, LIN Dianxin, XIAO Yi. Analysis of cell mutation types of colorectal neuroendocrine tumors[J]. Basic & Clinical Medicine, 2024, 44(4): 523-527.

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Analysis of cell mutation types of colorectal neuroendocrine tumors

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