Lynch综合征临床研究进展

周永明; 李文亮

Lynch综合征临床研究进展

昆明医科大学第一附属医院肿瘤科

基金项目:

基金：国家自然科学基金资助项目 (31660312);

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出版历程
- 收稿日期: 2017-11-19

The Progress in the Clinical Research of Lynch Syndrome

Funds:

基金：国家自然科学基金资助项目 (31660312);

摘要

摘要: 林奇综合征 (lynch syndrome, LS) 是最常见的遗传性结直肠癌综合征, 由错配修复 (mismatch repair, MMR) 系统缺陷所致的一种常染色体显性遗传性疾病.临床医师由于对该疾病的认识不足及检测过程复杂导致漏诊率较高.掌握LS遗传学的知识和诊断测试的方法, 对LS高危患者的识别和正确的诊断是成功筛查、实施外科手术决策和化学预防的关键, 对减少癌症发生和死亡具有重要意义.对LS临床特征、分子遗传学基础、诊断标准与方法、监测、管理与治疗和LS其他相关类型的新进展作简要论述.
- 结直肠癌 /
- 林奇综合症 /
- 错配修复基因 /
- 免疫组织化学 /
- 微卫星不稳定
Abstract: Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, an autosomal dominant inherited disease which is caused by mismatch repair system defect. Learning knowledge in the genetics and diagnosis of LS, and identifying at-risk patients and making a correct diagnosis are the keys to successful screening and surgical decision-making and chemoprevention which is important to decrease formation of and death from cancers. This article reviews recent developments in mainly the clinical features, genetics, current diagnostic standard and diagnosis, surveillance, management, treatment and other related syndromes of LS.
- Colorectal cancer /
- Lynch syndrome /
- Mismatch repair gene /
- Immunohistochemistry /
- Microsatellite instability

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参考文献(39)

[1]	[1]SIEGEL R L, MILLER K D, FEDEWA S A, et al.Colorectal cancer statistics, 2017[J].Ca A Cancer Journal for Clinicians, 2017, 67 (3) :177.
[2]	[2]CLANCY T.Lynch syndrome:Natural history and care of the patient[J].Gastrointestinal Nursing, 2014, 12 (8) :29-33.
[3]	[3]JASS J R, SMYRK T C, STEWART S M, et al.Pathology of hereditary non-polyposis colorectal cancer[J].Annals of the New York Academy of Sciences, 2000, 910 (1) :62-74.
[4]	[4]VASEN H F, MECKLIN J P, KHAN P M, et al.The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC) [J].Diseases of the Colon&Rectum, 1991, 34 (5) :424-425.
[5]	[5]VASEN H F.Clinical diagnosis and management of hereditary colorectal cancer syndromes[J].Journal of Clinical Oncology Official Journal of the American Society of Clinical Oncology, 2000, 18 (21) :81S.
[6]	[6]GREEN R C, PARFREY P S, WOODS M O, et al.Prediction of lynch syndrome in consecutive patients with colorectal cancer[J].Journal of the National Cancer Institute, 2009, 101 (5) :331-340.
[7]	[7]UMAR A, BOLAND C R, TERDIMAN J P, et al.Revised Bethesda Guidelines for Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) and Microsatellite Instability[J].Journal of the National Cancer Institute, 2004, 97 (12) :936.
[8]	[8]PIOL V, CASTELLS A, ANDREU M, et al.Accuracy of revised bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal Cancer[J].Jama, 2005, 293 (16) :1986.
[9]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) :191-192.
[10]珠珠, 李文亮, 李云峰, 等.典型遗传性非息肉性大肠癌1例家系分析[J].昆明医科大学学报, 2008, 29 (6) :66-70.
[11]	[11]SNOWSILL T, HUXLEY N, HOYLE M, et al.A model-based assessment of the cost-utility of strategies to identify Lynch syndrome in early-onset colorectal cancer patients.[J].BMC Cancer, 2015, 15 (1) :313.
[12]	[12]BOLAND C R, THIBODEAU S N, HAMILTON S R, et al.A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition:development of international criteria for the determination of microsatellite instability in colorectal cancer[J].Cancer Research, 1998, 58 (22) :5248.
[13]	[13]PALOMAKI G E, MCCLAIN M R, MELILLO S, et al.EGAPP supplementary evidence review:DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome[J].Genetics in Medicine, 2009, 11 (1) :42.
[14]	[14]ZHANG L.Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis clorectal cancer syndrome:part II.the utility of microsatellite instability testing[J].Journal of Molecular Diagnostics, 2008, 10 (4) :301-307.
[15]	[15]SHIA J.Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome.Part I.The utility of immunohistochemistry[J].Journal of Molecular Diagnostics, 2008, 10 (4) :293.
[16]	[16]HAUGEN A C, GOEL A, YAMADA K, et al.Genetic instability caused by loss of Mut S homologue 3 in human colorectal cancer[J].Cancer Research, 2008, 68 (20) :8465.
[17]	[17]HITCHINS M P, WARD R L.Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer[J].Journal of Medical Genetics, 2009, 46 (12) :793.
[18]王佳雷, 李霖.结直肠癌周围淋巴结CK20蛋白检测的临床应用研究[J].川北医学院学报, 2017, 32 (1) :82-85.
[19]	[19]CUI L, JIN H Y, CHENG H Y, et al.Genetic detection of Chinese hereditary nonpolyposis colorectal cancer[J].World Journal of Gastroenterology, 2004, 10 (2) :209.
[20]	[20]ZHANG C H, HE Y L, WANG F J, et al.Detection of h MSH2 and h MLH1 mutations in Chinese hereditary non-polyposis colorectal cancer kindreds[J].World Journal of Gastroenterology, 2008, 14 (2) :298-302.
[21]	[21]SKOGLUND J, DJUREINOVIC T, ZHOU X L, et al.Linkage analysis in a large Swedish family supports the presence of a susceptibility locus for adenoma and colorec-tal cancer on chromosome 9q22.32-31.1.[J].Journal of Medical Genetics, 2006, 43 (2) :e7.
[22]	[22]KAUR G, MASOUD A, RAIHAN N, et al.Mismatch repair genes expression defects&association with clinicopathological characteristics in colorectal carcinoma[J].Indian Journal of Medical Research, 2011, 134 (2) :186-192.
[23]	[23]LARREA A A, LUJAN S A, KUNKEL T A.Snap Shot:DNA mismatch repair[J].Cell, 2010, 141 (4) :730-731.
[24]	[24]DOWTY J G, WIN A K, BUCHANAN D D, et al.Cancer Risks for MLH1 and MSH2 Mutation Carriers[J].Human Mutation, 2013, 34 (3) :490-497.
[25]	[25]KEMPERS M J, KUIPER R P, OCKELOEN C W, et al.Risk of colorectal and endometrial cancers in EPCAM, deletion-positive Lynch syndrome:A cohort study[J].Lancet Oncology, 2011, 12 (1) :49-55.
[26]	[26]SYNGAL S, BRAND R E, CHURCH J M, et al.ACG clinical guideline:Genetic testing and management of hereditary gastrointestinal cancer syndromes[J].American Journal of Gastroenterology, 2015, 110 (2) :223.
[27]	[27]BONADONA V, BONATI B, OLSCHWANG S, et al.Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome[J].Jama, 2011, 305 (22) :2304.
[28]	[28]VASEN H F A.Revised guidelines for the clinical management of Lynch syndrome (HNPCC) :recommendations by a group of European experts.[J].Gut, 2013, 62 (6) :812-23.
[29]	[29]BAINS S J, MAHIC M, MYKLEBUST T, et al.Aspirin as secondary prevention in patients with colorectal cancer:An unselected population-based study[J].Journal of Clinical Oncology Official Journal of the American Society of Clinical Oncology, 2016, 34 (21) :2501.
[30]	[30]KALADY M F, MCGANNON E, VOGEL J D, et al.Risk of colorectal adenoma and carcinoma after colectomy for colorectal cancer in patients meeting Amsterdam criteria.[J].Annals of Surgery, 2010, 252 (3) :507-511.
[31]	[31]GIARDIELLO F M, ALLEN J I, AXILBUND J E, et al.Guidelines on genetic evaluation and management of lynch syndrome:A consensus satement by the US multi-society task force on colorectal cancer[J].American Journal of Gastroenterology, 2014, 81 (1) :192-193.
[32]	[32]RICHMAN S.Deficient mismatch repair:Read all about it (Review) [J].International Journal of Oncology, 2015, 47 (4) :1189.
[33]	[33] LE D T, URAM J N, WANG H, et al.PD-1 Blockade in tumors with mismatch-repair deficiency[J].New England Journal of Medicine, 2015, 372 (26) :1-3.
[34]	[34]CARETHERS J M.Differentiating Lynch-like from Lynch syndrome[J].Gastroenterology, 2014, 146 (3) :602-604.
[35]	[35]BUCHANAN D D, ROSTY C, CLENDENNING M, et al.Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome) [J].Application of Clinical Genetics, 2014, 2014 (1) :183-193.
[36]	[36]RODRGUEZ-SOLER M, PREZ-CARBONELL L, GUARINOS C, et al.Risk of cancer in cases of suspected lynch syndrome without germline mutation.[J].Gastroenterology, 2013, 144 (5) :926-932.
[37]	[37]LINDOR N M, RABE K, PETERSEN G M, et al.Lower cancer incidence in amsterdam-I citeria fmilies without mismatch repair deficiency[J].Jama, 2005, 293 (16) :1979-1985.
[38]	[38]VALLE L, PEREA J, CARBONELL P, et al.Clinicopathologic and pedigree differences in amsterdam I-positive hereditary nonpolyposis colorectal cancer families according to tumor microsatellite instability status[J].Journal of Clinical Oncology Official Journal of the American Society of Clinical Oncology, 2007, 25 (7) :781.
[39]	[39]YAMAGUCHI T, FURUKAWA Y, NAKAMURA Y, et al.Comparison of clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients with colorectal cancer:a cross-sectional study conducted by the Japanese Society for Cancer of the Colon and Rectum[J].Japanese Journal of Clinical Oncology, 2015, 45 (2) :153-159.

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