切换至 "中华医学电子期刊资源库"
高级检索
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) : 14 -20. doi: 10.3877/cma.j.issn.2095-3224.2024.01.003

专家论坛

遗传性大肠癌的筛查与随访策略优化
蔡依依1, 楼国春2, 徐栋1,†(), 袁瑛3,†()   
  1. 1. 310009　杭州，浙江大学医学院附属第二医院；310009　杭州，浙江大学医学院附属第二医院大肠外科
    2. 310009　杭州，浙江大学医学院附属第二医院；310009　杭州，浙江大学医学院附属第二医院消化内科
    3. 310009　杭州，浙江大学医学院附属第二医院；310009　杭州，浙江大学医学院附属第二医院肿瘤内科
  • 收稿日期:2023-10-11 出版日期:2024-02-25
  • 通信作者: 徐栋, 袁瑛
  • 基金资助:
    国家自然科学基金面上项目(No. 81773181)

Optimization of screening and follow-up strategies for hereditary colorectal cancer

Yiyi Cai1, Guochun Lou2, Dong Xu1,†(), Ying Yuan3,†()   

  1. 1. The Second Affiliated Hospital Zhejiang University School of Medicine, Hangzhou 310009, China; Department of Colorectal Surgery, the Second Affiliated Hospital Zhejiang University School of Medicine, Hangzhou 310009, China
    2. The Second Affiliated Hospital Zhejiang University School of Medicine, Hangzhou 310009, China; Department of Gastroenterology, the Second Affiliated Hospital Zhejiang University School of Medicine, Hangzhou 310009, China
    3. The Second Affiliated Hospital Zhejiang University School of Medicine, Hangzhou 310009, China; Department of Oncology, the Second Affiliated Hospital Zhejiang University School of Medicine, Hangzhou 310009, China
  • Received:2023-10-11 Published:2024-02-25
  • Corresponding author: Dong Xu, Ying Yuan
全文 ( ) 下载PDF ( ) 导出引用
引用本文：

蔡依依, 楼国春, 徐栋, 袁瑛. 遗传性大肠癌的筛查与随访策略优化[J]. 中华结直肠疾病电子杂志, 2024, 13(01): 14-20.

Yiyi Cai, Guochun Lou, Dong Xu, Ying Yuan. Optimization of screening and follow-up strategies for hereditary colorectal cancer[J]. Chinese Journal of Colorectal Diseases(Electronic Edition), 2024, 13(01): 14-20.

大肠癌发病率逐渐上升，遗传性大肠癌（HCRC）作为大肠癌中的重要分类越来越受到人们的重视。HCRC是由于胚系突变导致的遗传性疾病，约30%的大肠癌受家族遗传因素影响。HCRC可分为非息肉性综合征（主要为林奇综合征）和息肉性综合征（包括家族性腺瘤性息肉病、遗传性色素沉着消化道息肉病综合征、幼年性息肉综合征等）两大类。HCRC危害性大，做好筛查和随访是提高患者预后关键，本文结合我国对HCRC的筛查与随访策略的现状和研究进展展开讨论。

关键词: 结直肠肿瘤, 遗传性大肠癌, 林奇综合征, 家族性腺瘤性息肉病, 筛查随访

The incidence of colorectal cancer is gradually increasing, and hereditary colorectal cancer(HCRC) is getting more and more attention as an important classification among colorectal cancers. HCRC is a hereditary disease due to germline mutations, and about 30% of colorectal cancers are affected by genetic factors. HCRC can be divided into two categories: nonpolyposis syndromes (mainly Lynch syndrome) and polyposis syndromes (including familial adenomatous polyposis, Peutz-Jeghers syndrome, juvenile polyposis syndrome, etc.). HCRC is harmful, screening and follow-up are the key to improving the prognosis of patients, this paper discusses the current status and research progress of screening and follow-up strategies for HCRC in China.

Key words: Colorectal neoplasms, Hereditary colorectal cancer, Lynch syndrome, Familial adenomatous polyposis, Screening and follow-up
[1]
Sung H, Ferlay J, Siegel RL, et al. Global Cancer Statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries[J]. CA Cancer J Clin, 2021, 71(3): 209-249.
[2]
Mucci LA, Hjelmborg JB, Harris JR, et al. Familial risk and heritability of cancer among twins in nordic countries[J]. JAMA, 2016, 315(1): 68.
[3]
Boland PM, Yurgelun MB, Boland CR. Recent progress in Lynch syndrome and other familial colorectal cancer syndromes: familial colorectal cancer[J]. CA Cancer J Clin, 2018, 68(3): 217-231.
[4]
Pearlman R, Frankel WL, Swanson B, et al. Prevalence and spectrum of germline cancer susceptibility gene mutations among patients with early-onset colorectal cancer[J]. JAMA Oncol, 2017, 3(4): 464.
[5]
Valle L, de Voer RM, Goldberg Y, et al. Update on genetic predisposition to colorectal cancer and polyposis[J]. Mol Aspects Med, 2019, 69: 10-26.
[6]
Kanth P, Grimmett J, Champine M, et al. Hereditary colorectal polyposis and cancer syndromes: a primer on diagnosis and management[J]. Am J Gastroenterol, 2017, 112(10): 1509-1525.
[7]
中国抗癌协会家族遗传性肿瘤专业委员会.中国家族遗传性肿瘤临床诊疗专家共识[Z].中国肿瘤临床, 2022(2022-01).
[8]
袁瑛,熊斌,徐烨,等.遗传性结直肠癌临床诊治和家系管理中国专家共识[J].实用肿瘤杂志, 2018, 33(1): 3-16.
[9]
Hampel H, Khanduja K, Prior TW, et al. Screening for the lynch syndrome (hereditary nonpolyposis colorectal cancer)[J]. N Engl J Med, 2005, 352(18):1851-1860.
[10]
Moreira L, Balaguer F, Lindor N, et al. Identification of lynch syndrome among patients with colorectal cancer[J]. JAMA, 2012, 308(15): 1555.
[11]
Bläker H, Haupt S, Morak M, et al. Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnostics[J]. Int J Cancer, 2020, 147(10): 2801-2810.
[12]
Phipps AI, Limburg PJ, Baron JA, et al. Association between molecular subtypes of colorectal cancer and patient survival[J]. Gastroenterology, 2015, 148(1): 77-87.e2.
[13]
Leggett B, Whitehall V. Role of the serrated pathway in colorectal cancer pathogenesis[J]. Gastroenterology, 2010, 138(6): 2088-2100.
[14]
Dominguez-valentin M, Sampson JR, Seppälä TT, et al. Cancer risks by gene, age, and gender in 6 350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database[J]. Genet Med, 2020, 22(1): 15-25.
[15]
Win AK, Buchanan D, Rosty C, et al. Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome)[J]. Appl Clin Genet, 2014,(7): 183-193.
[16]
Gupta S, Provenzale D, Llor X, et al. NCCN guidelines insights: genetic/familial high-risk assessment: colorectal, version 2.2019[J]. J Natl Compr Canc Netw, 2019, 17(9): 1032-1041.
[17]
全国遗传性大肠癌协作组.中国人遗传性大肠癌筛检标准的实施方案[J].中华肿瘤杂志, 2004, 26(3): 66-67.
[18]
Zhu L, Huang Y, Fang X, et al. A novel and reliable method to detect microsatellite instability in colorectal cancer by next-generation sequencing[J]. J Mol Diagn, 2018, 20(2): 225-231.
[19]
Yang M, Li D, Jiang W, et al. Development and external validation of a novel nomogram for screening Chinese Lynch syndrome: based on a multicenter, population study[J]. Ther Adv Med Oncol, 2021, 13: 175883592110232.
[20]
姜武,梅伟健,丁培荣. Lynch综合征筛查及治疗研究进展[J].中国肿瘤临床, 2022, 49(23): 1196-1200.
[21]
Jiang W, Cai M, Li S, et al. Universal screening for Lynch syndrome in a large consecutive cohort of Chinese colorectal cancer patients: High prevalence and unique molecular features[J]. Inte J Cancer, 2019, 144(9): 2161-2168.
[22]
Xiao B, Luo J, Xie E, et al. Comparisons of screening strategies for identifying Lynch syndrome among patients with MLH1-deficient colorectal cancer[J]. Eur J Hum Genet, 2020, 28(11): 1555-1562.
[23]
王国荣,高显华.如何提高遗传性结直肠癌的筛查防治水平[J].结直肠肛门外科, 2023, 29(2): 127-131.
[24]
Lindor NM, Petersen GM, Hadley DW, et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review[J]. JAMA, 2006, 296(12): 1507-1517.
[25]
Syngal S, Brand RE, Church JM, et al. ACG clinical guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes[J]. Am J Gastroenterol, 2015, 110(2): 223-262.
[26]
Sroczynski G, Gogollari A, Conrads-frank A, et al. Cost-effectiveness of early detection and prevention strategies for endometrial cancer—a systematic review[J]. Cancers, 2020, 12(7): 1874.
[27]
Aronson M, Gryfe R, Choi YH, et al. Evaluating colonoscopy screening intervals in patients with Lynch syndrome from a large Canadian registry[J]. JNCI: J Nat Cancer Inst, 2023, 115(7): 778-787.
[28]
Sánchez A, Roos VH, Navarro M, et al. Quality of colonoscopy is associated with adenoma detection and postcolonoscopy colorectal cancer prevention in lynch syndrome[J]. Clin Gastroenterol Hepatol, 2022, 20(3): 611-621.e9.
[29]
Hüneburg R, Bucksch K, Schmeisser F, et al. Real-time use of artificial intelligence (CADEYE) in colorectal cancer surveillance of patients with Lynch syndrome—A randomized controlled pilot trial (CADLY)[J]. United European Gastroenterol J, 2023, 11(1): 60-68.
[30]
Seppälä TT, Latchford A, Negoi I, et al. European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender[J]. Br J Surg, 2021, 108(5): 484-498.
[31]
Lynch HT, de la Chapelle A. Hereditary colorectal cancer[J]. N Engl J Med, 2003, 348(10): 919-932.
[32]
Lindor NM, Rabe K, Petersen GM, et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X[J]. JAMA, 2005, 293(16): 1979-1985.
[33]
Shiovitz S, Copeland WK, Passarelli MN, et al. Characterisation of familial colorectal cancer Type X, Lynch syndrome, and non-familial colorectal cancer[J]. Br J Cancer, 2014, 111(3): 598-602.
[34]
Sampson JR, Dolwani S, Jones S, et al. Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH[J]. Lancet, 2003, 362(9377): 39-41.
[35]
Cleary SP, Cotterchio M, Jenkins MA, et al. Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study[J]. Gastroenterology, 2009, 136(4): 1251-1260.
[36]
Half E, Bercovich D, Rozen P. Familial adenomatous polyposis[J]. Orphanet J Rare Dis, 2009, 4: 22.
[37]
Petersen GM, Slack J, Nakamura Y. Screening guidelines and premorbid diagnosis of familial adenomatous polyposis using linkage[J]. Gastroenterology, 1991, 100(6): 1658-1664.
[38]
Rosenthal KM, Callan K, Hartzman GE, et al. NCCN guidelines insights: genetic/familial high-risk assessment: colorectal, version 1.2021[J]. J Natl Compr Canc Netw, 2021, 19(10): 1122-1132.
[39]
Knudsen AL, Bülow S, Tomlinson I, et al. Attenuated familial adenomatous polyposis: results from an international collaborative study: AFAP results from an international study[J]. Colorectal Dis, 2010, 12(10 Online): e243-e249.
[40]
Spirio L, Olschwang S, Groden J, et al. Alleles of the APC gene: An attenuated form of familial polyposis[J]. Cell, 1993, 75(5): 951-957.
[41]
Neklason DW, Stevens J, Boucher KM, et al. American founder mutation for attenuated familial adenomatous polyposis[J]. Clin Gastroenterol Hepatol, 2008, 6(1): 46-52.
[42]
Lubbe SJ, Di Bernardo MC, Chandler IP, et al. Clinical implications of the colorectal cancer risk associated with MUTYH mutation[J]. J Clin Oncol, 2009, 27(24): 3975-3980.
[43]
NIelsen M, De Miranda NF, Van Puijenbroek M, et al. Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas[J]. BMC Cancer, 2009, 9(1): 184.
[44]
Halford SER, Rowan AJ, Lipton L, et al. Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers[J]. Am J Pathol, 2003, 162(5): 1545-1548.
[45]
Walton SJ, Kallenberg FGJ, Clark SK, et al. Frequency and features of duodenal adenomas in patients with MUTYH-associated polyposis[J]. Clin Gastroenterol Hepatol, 2016, 14(7): 986-992.
[46]
Vogt S, Jones N, Christian D, et al. Expanded extracolonic tumor spectrum in MUTYH-associated polyposis[J]. Gastroenterology, 2009, 137(6): 1976-1985.e10.
[47]
Li C, Song W, Xu Y, et al. A one-stop approach to diagnosing hereditary colorectal cancer in the Chinese population[J]. J Gastroenterol Hepatol, 2023, 38(11): 1980-1987.
[48]
Yang M, Zhao Y, Ding Y, et al. A truncated protein product of the germline variant of the DUOX2 gene leads to adenomatous polyposis[J]. Cancer Biol Med, 2021, 18(1): 215-226.
[49]
李聪,宋望,许贇,等. 14例AFAP患者的临床病理特征及胚系突变情况分析[J].结直肠肛门外科, 2023, 29(2): 139-142.
[50]
Latchford AR, Clark SK. Gastrointestinal aspects of Peutz-Jeghers syndrome[J]. Best Pract Res Clin Gastroenterol, 2022, 58-59: 101789.
[51]
Mcgarrity TJ, Kulin HE, Zaino RJ. Peutz-jeghers syndrome[J]. Am J Gastroenterol, 2000, 95(3): 596-604.
[52]
Van Lier MGF, Mathus-vliegen EMH, Wagner A, et al. High cumulative risk of intussusception in patients with Peutz-jeghers syndrome: time to update surveillance guidelines?[J]. Am J Gastroenterol, 2011, 106(5): 940-945.
[53]
Chen HY, Jin XW, Li BR, et al. Cancer risk in patients with Peutz-Jeghers syndrome: A retrospective cohort study of 336 cases[J]. Tumor Biol, 2017, 39(6): 101042831770513.
[54]
Beggs AD, Latchford AR, Vasen HFA, et al. Peutz-Jeghers syndrome: a systematic review and recommendations for management[J]. Gut, 2010, 59(7): 975-986.
[55]
段福孝,顾国利,杨海瑞,等. Peutz-Jeghers综合征的临床病理学特征和亚型分型初探:附295例临床报道[J].中国普外基础与临床杂志, 2018, 25(7): 800-806.
[56]
张智,顾国利,杨惠民,等.基于大样本的Peutz-Jeghers综合征临床表现再认识[J].肿瘤综合治疗电子杂志, 2019, 5(2): 24-28.
[57]
Van Hattem WA, Brosens LAA, De Leng WWJ, et al. Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis[J]. Gut, 2008, 57(5): 623-627.
[58]
Latchford AR, Neale K, Phillips RK, et al. Juvenile polyposis syndrome: a study of genotype, phenotype, and long-term outcome[J]. Dis Colon Rectum, 2012, 55(10): 1038-1043.
[59]
Aretz S, Stienen D, Uhlhaas S, et al. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome[J]. J Med Genet, 2007, 44(11): 702-709.
[60]
Calva-cerqueira D, Chinnathambi S, Pechman B, et al. The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis[J]. Clin Genet, 2009, 75(1): 79-85.
[61]
Ma H, Brosens LAA, Offerhaus GJA, et al. Pathology and genetics of hereditary colorectal cancer[J]. Pathology, 2018, 50(1): 49-59.
[62]
Singh AD, Gupta A, Mehta N, et al. Occurrence of gastric cancer in patients with juvenile polyposis syndrome: a systematic review and meta-analysis[J]. Gastrointest Endosc, 2023, 97(3): 407-414.e1.
[63]
Schreibman IR, Baker M, Amos C, et al. The hamartomatous polyposis syndromes: a clinical and molecular review[J]. Am J Gastroenterol, 2005, 100(2): 476-490.
[64]
Brosens LAA, Van Hattem A, Hylind LM, et al. Risk of colorectal cancer in juvenile polyposis[J]. Gut, 2007, 56(7): 965-967.
[65]
Wain KE, Ellingson MS, Mcdonald J, et al. Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review[J]. Genet Med, 2014, 16(8): 588-593.
[66]
O’malley M, Laguardia L, Kalady MF, et al. The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome[J]. Dis Colon Rectum, 2012, 55(8): 886-892.
[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] 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.
[3] 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.
[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] 薛永婷, 高峰, 王雅楠, 屈莲平. 溶瘤病毒治疗在结直肠癌中的应用[J]. 中华普通外科学文献(电子版), 2023, 17(05): 380-384.
[8] 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.
[9] 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.
[10] 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.
[11] 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.
[12] 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.
[13] 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.
[14] 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.
[15] 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.
阅读次数
全文


摘要

版权所有 中华医学会 中华医学电子音像出版社有限责任公司  京ICP备14006079号-1  网络出版服务许可证：(署)网出证(京)字第075号