结直肠神经内分泌肿瘤细胞突变类型分析

doi:10.16352/j.issn.1001-6325.2024.04.0523

基础医学与临床 ›› 2024, Vol. 44 ›› Issue (4): 523-527.doi: 10.16352/j.issn.1001-6325.2024.04.0523

结直肠神经内分泌肿瘤细胞突变类型分析

王婷婷^1,2, 郭丹^1,2, 陆君阳³, 徐徕³, 董海涛⁴, 林佃新⁵, 肖毅^3*

1.中国医学科学院北京协和医学院北京协和医院 ,北京 100730;
2.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;
3.中国医学科学院北京协和医学院北京协和医院基本外科,北京 100730;
4.中国医学科学院北京协和医学院北京协和医院口腔科,北京 100730;
5.莱钢集团莱芜矿业有限公司职工医院内科,山东济南 271100

收稿日期:2023-07-31 修回日期:2024-01-25 出版日期:2024-04-05 发布日期:2024-03-25
通讯作者: ^*xiaoy@pumch.cn
基金资助:
中国医学科学院临床与转化研究专项(2022-I2M-C&T-A-001);国家自然科学基金( 81702933,81801627);中央高水平医院临床科研业务费(2023-PUMCH-F-004)

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

摘要/Abstract

摘要： 目的探讨结直肠神经内分泌肿瘤(NETs)的突变类型,更好地了解结直肠NETs的发病机制。方法招募结直肠NETs手术患者,取结直肠NETs和对应的癌旁组织,并进行全基因组测序(WGS)和进一步深入分析。结果通过WGS测序发现,结直肠NETs突变类型多样,包括单核苷酸突变、小片段序列的插入和缺失突变(InDel)、基因拷贝数变异(CNV), 以及大的结构性变异(SV)如插入(INS)、缺失(DEL)、染色体内易位(ITX)、染色体间易位(CTX)和反转(INV)等。结论在结直肠NETs发生时,体细胞发生了大量的突变,尤其以染色体CTX变异最为显著。

关键词: 结直肠神经内分泌肿瘤, 单核苷酸突变, 插入和缺失, 基因拷贝数变异, 结构性变异

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

中图分类号:

王婷婷, 郭丹, 陆君阳, 徐徕, 董海涛, 林佃新, 肖毅. 结直肠神经内分泌肿瘤细胞突变类型分析[J]. 基础医学与临床, 2024, 44(4): 523-527.

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.

参考文献 13

[1]	Amin MB, Frederick LG, Stephen BE, et al. The Eighth Edition AJCC Cancer Staging Manual: continuing to build a bridge from a population-based to a more “personalized” approach to cancer staging [J]. CA Cancer J Clin, 2017, 67: 93-99.
[2]	Dasari A, Chan S, Daniel H, et al. Trends in the incidence, prevalence, and survival outcomes in patients with neuroendocrine tumors in the United States[J]. JAMA Oncol, 2017, 3: 1335-1342.
[3]	Takizawa N, Ohishi Y, Hirahashi M, et al. Molecular characteristics of colorectal neuroendocrine carcinoma; similarities with adenocarcinoma rather than neuroendocr-ine tumor[J]. Hum Pathol, 2015, 46: 1890-900.
[4]	Klimstra DS, Capella C, Arnold R, et al. Neuroendocrine neoplasms of the colon and rectum. In: Bosaman FT, et al, editors. WHO classification of tumors of the digestive system[M]. Lyon, France: IARC Press; 2010: 174-177.
[5]	Rindi G, Arnold R, Bosman FT, et al. Nomenclature and classification of neuroendocrine neoplasms of the digestive system[M]. WHO Classification of Tumours of the Digestive System 4th edn. Lyon: International Agency for Research on Cancer(IARC); 2010: 13-14.
[6]	La Rosa S, Marando A, Furlan D,et al. Colorectal poorly differentiated neuroendocrine carcinomas and mixed adenoneuroendocrine carcinomas: insights into the diagnostic immunophenotype, assessment of methylation profile, and search for prognostic markers[J]. Am J Surg Pathol, 2012, 36: 601-611.
[7]	Liu S, Chang Y, Ma J, et al. Prognostic impact of p16 and p21 on gastroenteropancreatic neuroendocrine tumors[J]. Oncol Lett, 2013, 6: 1641-1645.
[8]	Pizzi S, Azzoni C, Tamburini E, et al. Adenomatous polyposis coli alteration in digestive endocrine tumours: correlation with nuclear translocation of beta-catenin and chromosomal instability[J]. Endocr Relat Cancer, 2008, 15: 1013-1024.
[9]	Vortmeyer AO, Lubensky IA, Merino MJ, et al. Concordance of genetic alterations in poorly differentiated colorec-tal neuroendocrine carcinomas and associated adenocarcinomas[J]. J Natl Cancer Inst, 1997, 89: 1448-1453.
[10]	Woischke C, Schaaf CW, Yang HM, et al. In-depth mutational analyses of colorectal neuroendocrine carcinomas with adenoma or adenocarcinoma components[J]. Mod Pathol, 2017, 30: 95-103.
[11]	Wang TT, Lu J, Xu L, et al. Whole genome sequencing of colorectal neuroendocrine tumors and in-depth muta-tional analyses[J]. Med Oncol, 2020, 37: 56. doi: 10.1007/s12032-020-01356-y.
[12]	Scarpa A, Chang DK, Nones K, et al. Whole-genome landscape of pancreatic neuroendocrine tumours[J]. Nature, 2017, 543: 65-71.
[13]	Hong X, Qiao S, Li F, et al. Whole-genome sequencing reveals distinct genetic bases for insulinomas and non-functional pancreatic neuroendocrine tumours: leading to a new classifcation system[J]. Gut, 2020, 69: 877-887.

编辑推荐 0

Metrics

阅读次数

全文

HTML			PDF

最新录用	在线预览	正式出版	最新录用	在线预览	正式出版
0	0	0	0	0	85

来源	本网站	其他网站

次数	47	38
比例	55%	45%

摘要

116

最新录用	在线预览	正式出版

0	0	116

来源	本网站	其他网站

次数	114	2
比例	98%	2%

[1]	唐丽鸿, 陈春玲. SphK/S1P在心血管疾病中的作用[J]. 基础医学与临床, 2024, 44(8): 1175-1179.
[2]	王婷婷, 魏欢, 杨永丽, 周贤, 胡阳. 三七皂苷Rg1对阿尔茨海默症大鼠的神经系统的保护作用[J]. 基础医学与临床, 2024, 44(8): 1094-1100.
[3]	王泽颖, 刘治, 邰玉, 杨忠彬, 苏燕. 转酮醇酶在糖尿病及其并发症发生和治疗中作用的研究进展[J]. 基础医学与临床, 2024, 44(7): 1023-1028.
[4]	陈信文, 曹佳璇, 饶书权. 基于dCasMINI蛋白的CRISPRi工具设计及其效果探究[J]. 基础医学与临床, 2024, 44(6): 821-827.
[5]	余志鑫, 邙新雨, 邹定峰, 缪时英, 宋伟, 李凯. 腹腔注射白消安对精原干细胞代谢特征的影响[J]. 基础医学与临床, 2024, 44(6): 793-799.
[6]	杨瀚毅, 宁佳怡, 汪小兰, 张益萌, 谢婷珂, 陈奕玄, 韩静. 褪黑素抑制H₂O₂诱导的人脐静脉内皮细胞氧化应激及凋亡标志蛋白质的表达[J]. 基础医学与临床, 2024, 44(5): 645-650.
[7]	王婷婷, 萧宁, 林佃新, 董海涛. 大蒜素抑制口腔癌细胞系CAL27的增殖[J]. 基础医学与临床, 2024, 44(5): 673-676.
[8]	杨春生, 王添兴, 张铁成, 武恒敏, 王宝兰. 软骨细胞中生物钟基因Bmal1对细胞周期相关基因表达的影响[J]. 基础医学与临床, 2024, 44(4): 496-502.
[9]	郭鑫, 冀梦蝶, 王琦, 李雪媛, 陈阳. 鉴定顺铂对人肝癌细胞系转录物组的影响[J]. 基础医学与临床, 2024, 44(3): 352-360.
[10]	牟杨, 杨志文. 右美托咪定通过激活AMPK减轻TNF-α诱导人成神经细胞瘤细胞系SH-SY5Y损伤[J]. 基础医学与临床, 2024, 44(2): 147-153.
[11]	李想, 李晔. 非酒精性脂肪性肝病中自噬与铁死亡相互作用的研究进展[J]. 基础医学与临床, 2023, 43(8): 1294-1298.
[12]	王帆, 邓勇志. 微小RNAs在心肌肥厚中作用和分子机制的研究进展[J]. 基础医学与临床, 2023, 43(7): 1167-1170.
[13]	杨为祝, 刘忠, 张峰林, 黄延林, 孙瑾, 田新华. NOX4介导的氧化应激参与垂体腺瘤出血性卒中的发生[J]. 基础医学与临床, 2023, 43(7): 1040-1044.
[14]	张英, 方红娟. 在药学专业教学工作中对医学生科学普及能力的培养[J]. 基础医学与临床, 2023, 43(7): 1175-1178.
[15]	赫佳音, 杨嘉宾, 陈仲扬, 马艳妮, 余佳. 烯醇化酶1通过影响mRNA定位调节人胚胎干细胞自我更新能力[J]. 基础医学与临床, 2023, 43(6): 867-874.

结直肠神经内分泌肿瘤细胞突变类型分析

Analysis of cell mutation types of colorectal neuroendocrine tumors

PDF

可视化

摘要/Abstract

引用本文

使用本文

参考文献 13

相关文章 15

编辑推荐 0

Metrics

本文评价