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中华结直肠疾病电子杂志

中华结直肠疾病电子杂志 ›› 2024, Vol. 13 ›› Issue (01) : 68 -71. doi: 10.3877/cma.j.issn.2095-3224.2024.01.011

病例报道

一例携带BRCA1 p.R166fs新突变位点的结肠癌病例报道
周大杨1, 刘畅1, 黄鉴2, 许宁2, 吉祥1, 杨可欣3, 彭继邦2, 潘海1, 徐文静1, 珠珠1,†()   
  1. 1. 650032　昆明医科大学第一附属医院日间手术中心
    2. 650032　昆明医科大学第一附属医院肿瘤科
    3. 650118　云南省肿瘤医院肿瘤科
  • 收稿日期:2024-01-29 出版日期:2024-02-25
  • 通信作者: 珠珠
  • 基金资助:
    云南省科学技术厅基金(No.202101AT070234)

A casereport of BRCA1 p.R166fs mutation in colon cancer

Dayang Zhou1, Chang Liu1, Jian Huang2, Ning Xu2, Xiang Ji1, Kexin Yang3, Jibang Peng2, Hai Pan1, Wenjing Xu1, Zhu Zhu1,†()   

  1. 1. Day Surgery Center, the First Affiliated Hospital of Kunming Medical University, Kunming 650032, China
    2. Department of Oncology, the First Affiliated Hospital of Kunming Medical University, Kunming 650032, China
    3. Department of Oncology, Yunnan Provincial Cancer Hospital, Kunming 650118, China
  • Received:2024-01-29 Published:2024-02-25
  • Corresponding author: Zhu Zhu
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引用本文：

周大杨, 刘畅, 黄鉴, 许宁, 吉祥, 杨可欣, 彭继邦, 潘海, 徐文静, 珠珠. 一例携带BRCA1 p.R166fs新突变位点的结肠癌病例报道[J]. 中华结直肠疾病电子杂志, 2024, 13(01): 68-71.

Dayang Zhou, Chang Liu, Jian Huang, Ning Xu, Xiang Ji, Kexin Yang, Jibang Peng, Hai Pan, Wenjing Xu, Zhu Zhu. A casereport of BRCA1 p.R166fs mutation in colon cancer[J]. Chinese Journal of Colorectal Diseases(Electronic Edition), 2024, 13(01): 68-71.

结直肠癌是由复杂的遗传多步骤分子途径引起的。乳腺癌易感基因1（BRCA1）是著名的肿瘤易感基因，其报道多集中在乳腺癌和卵巢癌的遗传易感性方面，但BRCA1胚系突变相关结直肠癌研究还处于起始阶段，其发病原因及机制不详，目前尚无统一、规范的诊治指南。本文报道了1例BRCA1 p.R166fs新突变位点的结肠癌病例，并通过回顾相关的历史文献，对该疾病的发病机制及预后等问题进行了讨论。

关键词: 结直肠肿瘤, BRCA1基因突变, 家系分析

Colorectal cancer is caused by a complex genetic multistep molecular pathway. Breast cancer susceptibility gene 1 (BRCA1) is a well-known tumor susceptibility gene, and most of its reports focus on the genetic susceptibility of breast cancer and ovarian cancer, but the study of BRCA1 germline mutation-associated colorectal cancer is still in the beginning stage, and its pathogenesis and mechanism are not known, and there is no uniform and standardized diagnosis and treatment guidelines. In this paper, we report a case of colon cancer with a new BRCA1 p.R166fs mutation site, and discuss the pathogenesis and prognosis of this disease by reviewing the relevant historical literature.

Key words: Colorectal neoplasms, BRCA1 gene mutation, Family lineage analysis
图1 结肠癌患者结肠镜结果。1A~1B：横结肠肝曲处见周围肿物凸向腔内，肠腔狭窄表面充血水肿、溃烂；1C~1D：肿物肛侧约5 cm横结肠处见一直径约0.5 cm息肉；直肠上段见两个直径约0.3 cm及0.4 cm息肉
图2 结肠癌患者活检病理结果。2A：术前结直肠镜活检镜下见大小不等的肿瘤细胞呈不规则腺腔样结构，肿瘤细胞异型性明显；2B：术后结肠癌活检镜下见肿瘤细胞围成腺腔样结构，部分呈实性索状结构，肿瘤实质和间质分界较为清楚（苏木精-伊红染色×100）
图3 结肠癌患者腹部CT结果。3A：轴位CT平扫示结肠肝曲肠壁不规则增厚；3B：增强扫描明显不均匀强化（箭头）
图4 结肠癌患者家系图谱
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