切换至 "中华医学电子期刊资源库"

中华结直肠疾病电子杂志 ›› 2024, Vol. 13 ›› Issue (01) : 1 -5. doi: 10.3877/cma.j.issn.2095-3224.2024.01.001

专家论坛

遗传性结直肠癌的基因阻断
陈园园1, 颜宏利1,()   
  1. 1. 200433 上海,海军军医大学第一附属医院生殖医学中心
  • 收稿日期:2023-10-16 出版日期:2024-02-25
  • 通信作者: 颜宏利
  • 基金资助:
    国家自然科学基金面上项目(No.82273465)

Genetic blockade in hereditary colorectal cancer

Yuanyuan Chen1, Hongli Yan1,()   

  1. 1. Reproductive Medicine Center, the First Affiliated Hospital of Naval Medical University, Shanghai 200433, China
  • Received:2023-10-16 Published:2024-02-25
  • Corresponding author: Hongli Yan
引用本文:

陈园园, 颜宏利. 遗传性结直肠癌的基因阻断[J]. 中华结直肠疾病电子杂志, 2024, 13(01): 1-5.

Yuanyuan Chen, Hongli Yan. Genetic blockade in hereditary colorectal cancer[J]. Chinese Journal of Colorectal Diseases(Electronic Edition), 2024, 13(01): 1-5.

遗传性结直肠癌的发病率和死亡率呈逐年上升趋势,年轻化为其重要特征。随着肿瘤治疗技术和辅助生殖技术的进步以及患者对生育质量要求的提高,基因阻断可避免遗传性肿瘤基因向下一代传递,已成为该类患者最佳的辅助生育策略选择。本文就遗传性结直肠癌的研究现状和基因阻断方法做一概述,并提出全流程解决方案。该方案亦可借鉴用于其他遗传性肿瘤的基因阻断实践。

The incidence and mortality of hereditary colorectal cancer are increasing year by year, and young age of onset is one of its most important features. With the advancement of tumor treatment and assisted reproductive technology and the increased demand of reproductive quality, pathogenic gene blocking is becoming the best strategy for these patients. Here we summarized the research status and specific methods of gene blocking for hereditary colorectal cancer, and proposed the whole-process solutions. Meanwhile, the protocol can also be used as a reference for gene blocking in other hereditary tumors.

图1 生育力保存全流程图注:虚线代表技术尚未成熟。PGT:胚胎植入前遗传学检测
图2 年轻肿瘤患者生育力保护流程图
[1]
Ma H, Brosens LAA, Offerhaus GJA, et al. Pathology and genetics of hereditary colorectal cancer[J]. Pathology, 2018, 50(1): 49-59.
[2]
Lynch HT, de la Chapelle A. Hereditary colorectal cancer[J]. N Engl J Med, 2003, 348(10): 919-932.
[3]
中国抗癌协会大肠癌专业委员会遗传学组.遗传性结直肠癌临床诊治和家系管理中国专家共识[J].中华肿瘤杂志, 2018, 40(1):64-77.
[4]
Monahan KJ, Bradshaw N, Dolwani S, et al. Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG)[J]. Gut, 2020, 69(3): 411-444.
[5]
Tomita N, Ishida H, Tanakaya K, et al. Japanese Society for Cancer of the Colon and Rectum (JSCCR) guidelines 2020 for the clinical practice of hereditary colorectal cancer[J]. Int J Clin Oncol, 2021, 26(8): 1353-1419.
[6]
Kupfer SS, Burke CA. Patients in whom to consider genetic evaluation and testing for hereditary colorectal cancer syndromes[J]. Am J Gastroenterol, 2020, 115(1): 1-4.
[7]
Hampel H, Kalady MF, Pearlman R, et al. Hereditary colorectal cancer[J]. Hematol Oncol Clin North Am, 2022, 36(3): 429-447.
[8]
Kim JC, Bodmer WF. Genotypic and phenotypic characteristics of hereditary colorectal cancer[J]. Ann Coloproctol, 2021, 37(6): 368-381.
[9]
Nusliha A, Dalpatadu U, Amarasinghe B, et al. Congenital hypertrophy of retinal pigment epithelium (CHRPE) in patients with familial adenomatous polyposis (FAP); a polyposis registry experience[J]. BMC Res Notes, 2014, 7: 734.
[10]
陈园园,颜宏利.遗传性结直肠癌及其基因阻断的研究现状与患者的临床管理[J].结直肠肛门外科, 2023, 29(2): 110-114.
[11]
Tulchinsky H, Keidar A, Strul H, et al. Extracolonic manifestations of familial adenomatous polyposis after proctocolectomy[J]. Arch Surg, 2005, 140(2): 159-163; discussion164.
[12]
Half E, Bercovich D, Rozen P. Familial adenomatous polyposis[J]. Orphanet J Rare Dis, 2009, 4: 22.
[13]
Te Paske IBAW, Ligtenberg MJL, Hoogerbrugge N, et al. Candidate gene discovery in hereditary colorectal cancer and polyposis syndromes-considerations for future studies[J]. Int J Mol Sci, 2020, 21(22): 8757.
[14]
Wang D, Liang S, Zhang X, et al. Targeted next-generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposis[J]. Mol Genet Genomic Med, 2019, 7(1): e00505.
[15]
Lambertini M, Del Mastro L, Pescio MC, et al. Cancer and fertility preservation: international recommendations from an expert meeting[J]. BMC Med, 2016, 14: 1.
[16]
Chian RC, Xu Y, Keilty D. Chapter 3 current challenges in immature oocyte cryopreservation[J]. Methods Mol Biol, 2017, 1568: 33-44.
[17]
Dolmans MM, Donnez J, Cacciottola L. Fertility preservation: the challenge of freezing and transplanting ovarian tissue[J]. Trends Mol Med, 2021, 27(8): 777-791.
[1] 康夏, 田浩, 钱进, 高源, 缪洪明, 齐晓伟. 骨织素抑制破骨细胞分化改善肿瘤骨转移中骨溶解的机制研究[J]. 中华乳腺病杂志(电子版), 2023, 17(06): 329-339.
[2] 杨立胜, 刘梦鸾, 任维聃, 姜国胜, 刘桂伟. 基于血清肿瘤标志物预测结直肠癌肝转移模型价值分析[J]. 中华普通外科学文献(电子版), 2024, 18(01): 39-43.
[3] 中华医学会肿瘤学分会早诊早治学组. 中国结直肠癌早诊早治专家共识(2023版)[J]. 中华普通外科学文献(电子版), 2024, 18(01): 1-13.
[4] 代莉, 邓恢伟, 郭华静, 黄芙蓉. 术中持续输注艾司氯胺酮对腹腔镜结直肠癌手术患者术后睡眠质量的影响[J]. 中华普通外科学文献(电子版), 2023, 17(06): 408-412.
[5] 王得晨, 杨康, 杨自杰, 归明彬, 屈莲平, 张小凤, 高峰. 结直肠癌微卫星稳定状态和程序性死亡、吲哚胺2,3-双加氧酶关系的研究进展[J]. 中华普通外科学文献(电子版), 2023, 17(06): 462-465.
[6] 付佳, 肖海敏, 武曦, 冯涛, 师帅. 年龄校正查尔森合并症指数对腹腔镜结直肠癌围手术期并发症的预测价值[J]. 中华普通外科学文献(电子版), 2023, 17(05): 336-341.
[7] 唐旭, 韩冰, 刘威, 陈茹星. 结直肠癌根治术后隐匿性肝转移危险因素分析及预测模型构建[J]. 中华普外科手术学杂志(电子版), 2024, 18(01): 16-20.
[8] 张生军, 赵阿静, 李守博, 郝祥宏, 刘敏丽. 高糖通过HGF/c-met通路促进结直肠癌侵袭和迁移的实验研究[J]. 中华普外科手术学杂志(电子版), 2024, 18(01): 21-24.
[9] 李婷, 张琳. 血清脂肪酸代谢物及维生素D水平与结直肠癌发生的关系研究[J]. 中华普外科手术学杂志(电子版), 2023, 17(06): 661-665.
[10] 高洁, 王金玉, 范亚洲, 赵娜, 关乐, 安欣裕, 苏永区. 孕前经脐单孔腹腔镜极简式宫颈环扎术治疗宫颈机能不全[J]. 中华腔镜外科杂志(电子版), 2023, 16(06): 361-364.
[11] 关旭, 王锡山. 基于外科与免疫视角思考结直肠癌区域淋巴结处理的功与过[J]. 中华结直肠疾病电子杂志, 2023, 12(06): 448-452.
[12] 顾睿祈, 方洪生, 蔡国响. 循环肿瘤DNA检测在结直肠癌诊治中的应用与进展[J]. 中华结直肠疾病电子杂志, 2023, 12(06): 453-459.
[13] 倪文凯, 齐翀, 许小丹, 周燮程, 殷庆章, 蔡元坤. 结直肠癌患者术后发生延迟性肠麻痹的影响因素分析[J]. 中华结直肠疾病电子杂志, 2023, 12(06): 484-489.
[14] 范小彧, 孙司正, 鄂一民, 喻春钊. 梗阻性左半结肠癌不同手术治疗方案的选择应用[J]. 中华结直肠疾病电子杂志, 2023, 12(06): 500-504.
[15] 孙昕, 程海波, 沈卫星. 基于全转录组学探讨仙连解毒方治疗Ⅲ期结直肠癌患者的疗效机制[J]. 中华消化病与影像杂志(电子版), 2023, 13(05): 277-283.
阅读次数
全文


摘要