林奇综合征临床诊断、筛查与治疗的研究进展
摘要
林奇综合征(LS)是最常见的遗传性肿瘤综合征,其阳性患者患结直肠癌、子宫内膜癌以及胃癌的风险增高。LS是指存在错配修复基因缺失的个体,包括已经因错配修复基因突变而发生肿瘤或未发生肿瘤的个体。由于中国对LS的研究起步较晚,目前并未形成完整的诊疗标准或指南,所以主要参考国外已经形成的标准或指南。但由于人种差异,极易造成误诊和漏诊现象。本文就LS的遗传基础、临床分型以及目前诊断策略、筛查方式、临床治疗手段进行文献综述。
引文
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[3] Hampel H, de la Chapelle A. The search for unaffected individuals with Lynch syndrome:do the ends justify the means?[J]. Cancer Prev Res(Phila), 2011, 4(1):1-5.
[4] Kumamoto K, Ishida H, Suzuki O, et al. Lower prevalence of Lynch syndrome in colorectal cancer patients in a Japanese hospital-based population[J]. Surg Today, 2016, 46(6):713-720.
[5]徐俊荣,宋瑛.林奇综合征的诊治进展[J].胃肠病学和肝病学杂志, 2010, 19(10):956-959.
[6]李小会,赵文婕,刘变英.林奇综合征诊疗进展[J].中华结直肠疾病电子杂志, 2016, 5(6):512-517.
[7] Martín-López JV, Fishel R. The mechanism of mismatch repair and the functional analysis of mismatch repair defects in Lynch syndrome[J]. Fam Cancer, 2013, 12(2):159-168.
[8]李悠然,谷云飞.微卫星不稳定在结直肠癌的研究进展[J].重庆医学, 2016, 45(13):1855-1859.
[9]孟亚飞,关秀梅,朱林琳,等.微卫星不稳定性在结直肠癌病理检测中的临床病理意义[J].临床医药文献电子杂志,2017, 4(5):982.
[10] Giardiello FM, Allen JI, Axilbund JE, et al. Guidelines on genetic evaluation and management of Lynch syndrome:a consensus statement by the US Multi-society Task Force on colorectal cancer[J]. Am J Gastroenterol, 2014, 109(8):1159-1179.
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[16] Durno CA, Holter S, Sherman PM, et al. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations[J]. Am J Gastroenterol, 2010, 105(11):2449-2456.
[17]季午阳,吴斌.家族性结直肠癌X型研究进展[J].中华结直肠疾病电子杂志, 2017, 6(4):320-323.
[18] Vasen HF, Watson P, Mecklin JP, et al. New clinical criteria for hereditary nonpolyposis colorectal cancer(HNPCC, Lynch syndrome)proposed by the International Collaborative group on HNPCC[J]. Gastroenterol, 1999,116(6):1453-1456.
[19] Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer(Lynch syndrome)and microsatellite instability[J]. J Natl Cancer Inst, 2004, 96(4):261-268.
[20] Mercado RC, Hampel H, Kastrinos F, et al. Performance of PREMM(1,2,6), MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases[J].Genet Med, 2012, 14(7):670-680.
[21] Heald B, Plesec T, Liu X, et al. Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing lynch syndrome in a large academic medical center[J]. J Clin Oncol, 2013, 31(10):1336-1340.
[22] Moreira L, Balaguer F, Lindor N, et al. Identification of Lynch syndrome among patients with colorectal cancer[J].JAMA, 2012, 308(15):1555-1565.
[23] Herráiz M, Mu?oz-Navas M. Recognition and management of hereditary colorectal cancer syndromes[J]. Rev Esp Enferm Dig, 2009, 101(2):125-132.
[24]侯宫宇,张美琳. MMR蛋白表达缺失检测对散发性微卫星不稳定性结直肠癌和林奇综合征患者预后的影响[J].国际消化病杂志, 2017, 37(5):325-329.
[25] Dove-Edwin I, Sasieni P, Adams J, et al. Prevention of colorectal cancer by colonoscopic surveillance in individuals with a family history of colorectal cancer:16 year, prospective, follow-up study[J]. BMJ, 2005, 331(7524):1047.
[26]于鹏飞,顾国利,魏学明,等. hMLH1、hMSH2、hMSH6在散发性结直肠癌中的表达状态与其临床病理特征的关系[J].中国普外基础与临床杂志, 2015, 22(5):581-585.
[27] Liu X.炎性肠病相关的大肠腺癌临床特征的研究:与散发微卫星稳定性和林奇综合征相关性大肠腺癌的比较(英)[J].诊断病理学杂志, 2013, 20(3):140.
[28] Gupta S, Provenzale D, Regenbogen SE, et al. NCCN guidelines insights:genetic/familial high-risk assessment:colorectal, version 3. 2017[J]. J Nati Compr Canc Netw,2017, 15(12):1465-1475.
[29] Yates LR, Seoane J, Le Tourneau C, et al. The European Society for Medical Oncology(ESMO)precision medicine glossary[J]. Ann Oncol, 2018, 29(1):30-35.
[30] Evaluation of Genomic Applications in Practice and Prevention(EGAPP)Working Group. Recommendations from the EGAPP Working Group:genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives[J]. Genet Med, 2009, 11(1):35-41.
[31] Win AK, Parry S, Parry B, et al. Risk of metachronous colon cancer following surgery for rectal cancer in mismatch repair gene mutation carriers[J]. Ann Surg Oncol, 2013, 20(6):1829-1836.
[32] Sloan EA, Ring KL, Willis BC, et al. PD-L1 expression in mismatch repair-deficient endometrial carcinomas, including Lynch syndrome-associated and MLH1 promoter hypermethylated tumors[J]. Am J Surg Pathol, 2017, 41(3):326-333.
[33] Svrcek M, Beaugerie L, Kirchgesner J, et al. Azathioprine may not be associated with development of colorectal tumors with microsatellite instability in patients with inflammatory bowel disease[J]. Am J Gastroenterol, 2016, 111(1):149-151.
[2] Chen W, Zheng R, Baade PD, et al. Cancer statistics in China, 2015[J]. Ca A Cancer J Clin, 2016, 66(2):115.
[3] Hampel H, de la Chapelle A. The search for unaffected individuals with Lynch syndrome:do the ends justify the means?[J]. Cancer Prev Res(Phila), 2011, 4(1):1-5.
[4] Kumamoto K, Ishida H, Suzuki O, et al. Lower prevalence of Lynch syndrome in colorectal cancer patients in a Japanese hospital-based population[J]. Surg Today, 2016, 46(6):713-720.
[5]徐俊荣,宋瑛.林奇综合征的诊治进展[J].胃肠病学和肝病学杂志, 2010, 19(10):956-959.
[6]李小会,赵文婕,刘变英.林奇综合征诊疗进展[J].中华结直肠疾病电子杂志, 2016, 5(6):512-517.
[7] Martín-López JV, Fishel R. The mechanism of mismatch repair and the functional analysis of mismatch repair defects in Lynch syndrome[J]. Fam Cancer, 2013, 12(2):159-168.
[8]李悠然,谷云飞.微卫星不稳定在结直肠癌的研究进展[J].重庆医学, 2016, 45(13):1855-1859.
[9]孟亚飞,关秀梅,朱林琳,等.微卫星不稳定性在结直肠癌病理检测中的临床病理意义[J].临床医药文献电子杂志,2017, 4(5):982.
[10] Giardiello FM, Allen JI, Axilbund JE, et al. Guidelines on genetic evaluation and management of Lynch syndrome:a consensus statement by the US Multi-society Task Force on colorectal cancer[J]. Am J Gastroenterol, 2014, 109(8):1159-1179.
[11] Kempers MJ, Kuiper RP, Ockeloen CW, et al. Risk of colorectal and endometrial cancers in EPCAM deletionpositive Lynch syndrome:a cohort study[J]. Lancet Oncol, 2011, 12(1):49-55.
[12] Aaltonen LA, Salovaara R, Kristo P, et al. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease[J]. N Engl J Med,1998, 338(21):1481-1487.
[13] Vasen HF, Mecklin JP, Khan PM, et al. The international collaborative group on hereditary non-polyposis colorectal cancer(ICG-HNPCC)[J]. Dis Colon Rectum, 1991, 34(5):424-425.
[14] Lynch HT, Lynch PM, Pester J, et al. The cancer family syndrome. Rare cutaneous phenotypic linkage of Torre’s syndrome[J]. Arch Intern Med, 1981, 141(5):607-611.
[15]从志杰,刘连杰,傅传刚.胶质瘤息肉病综合征[J].中国普通外科杂志, 2009(4):394-396.
[16] Durno CA, Holter S, Sherman PM, et al. The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations[J]. Am J Gastroenterol, 2010, 105(11):2449-2456.
[17]季午阳,吴斌.家族性结直肠癌X型研究进展[J].中华结直肠疾病电子杂志, 2017, 6(4):320-323.
[18] Vasen HF, Watson P, Mecklin JP, et al. New clinical criteria for hereditary nonpolyposis colorectal cancer(HNPCC, Lynch syndrome)proposed by the International Collaborative group on HNPCC[J]. Gastroenterol, 1999,116(6):1453-1456.
[19] Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer(Lynch syndrome)and microsatellite instability[J]. J Natl Cancer Inst, 2004, 96(4):261-268.
[20] Mercado RC, Hampel H, Kastrinos F, et al. Performance of PREMM(1,2,6), MMRpredict, and MMRpro in detecting Lynch syndrome among endometrial cancer cases[J].Genet Med, 2012, 14(7):670-680.
[21] Heald B, Plesec T, Liu X, et al. Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing lynch syndrome in a large academic medical center[J]. J Clin Oncol, 2013, 31(10):1336-1340.
[22] Moreira L, Balaguer F, Lindor N, et al. Identification of Lynch syndrome among patients with colorectal cancer[J].JAMA, 2012, 308(15):1555-1565.
[23] Herráiz M, Mu?oz-Navas M. Recognition and management of hereditary colorectal cancer syndromes[J]. Rev Esp Enferm Dig, 2009, 101(2):125-132.
[24]侯宫宇,张美琳. MMR蛋白表达缺失检测对散发性微卫星不稳定性结直肠癌和林奇综合征患者预后的影响[J].国际消化病杂志, 2017, 37(5):325-329.
[25] Dove-Edwin I, Sasieni P, Adams J, et al. Prevention of colorectal cancer by colonoscopic surveillance in individuals with a family history of colorectal cancer:16 year, prospective, follow-up study[J]. BMJ, 2005, 331(7524):1047.
[26]于鹏飞,顾国利,魏学明,等. hMLH1、hMSH2、hMSH6在散发性结直肠癌中的表达状态与其临床病理特征的关系[J].中国普外基础与临床杂志, 2015, 22(5):581-585.
[27] Liu X.炎性肠病相关的大肠腺癌临床特征的研究:与散发微卫星稳定性和林奇综合征相关性大肠腺癌的比较(英)[J].诊断病理学杂志, 2013, 20(3):140.
[28] Gupta S, Provenzale D, Regenbogen SE, et al. NCCN guidelines insights:genetic/familial high-risk assessment:colorectal, version 3. 2017[J]. J Nati Compr Canc Netw,2017, 15(12):1465-1475.
[29] Yates LR, Seoane J, Le Tourneau C, et al. The European Society for Medical Oncology(ESMO)precision medicine glossary[J]. Ann Oncol, 2018, 29(1):30-35.
[30] Evaluation of Genomic Applications in Practice and Prevention(EGAPP)Working Group. Recommendations from the EGAPP Working Group:genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives[J]. Genet Med, 2009, 11(1):35-41.
[31] Win AK, Parry S, Parry B, et al. Risk of metachronous colon cancer following surgery for rectal cancer in mismatch repair gene mutation carriers[J]. Ann Surg Oncol, 2013, 20(6):1829-1836.
[32] Sloan EA, Ring KL, Willis BC, et al. PD-L1 expression in mismatch repair-deficient endometrial carcinomas, including Lynch syndrome-associated and MLH1 promoter hypermethylated tumors[J]. Am J Surg Pathol, 2017, 41(3):326-333.
[33] Svrcek M, Beaugerie L, Kirchgesner J, et al. Azathioprine may not be associated with development of colorectal tumors with microsatellite instability in patients with inflammatory bowel disease[J]. Am J Gastroenterol, 2016, 111(1):149-151.