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中华结直肠疾病电子杂志 ›› 2016, Vol. 05 ›› Issue (06) : 512 -517. doi: 10.3877/cma.j.issn.2095-3224.2016.06.012

所属专题: 文献

综述

林奇综合征诊疗进展
李小会1, 赵文婕1, 刘变英1,()   
  1. 1. 030006 太原,山西省煤炭中心医院消化内科
  • 收稿日期:2016-07-18 出版日期:2016-12-25
  • 通信作者: 刘变英
  • 基金资助:
    山西省科技计划社会发展资助项目(No.20120313019-11)

Advances in the diagnosis and treatment of Lynch syndrome

Xiaohui Li1, Wenjie Zhao1, bianying Liu1,()   

  1. 1. Department of Gastroenterology, Shanxi Coal Center Hospital, Taiyuan 030006, China
  • Received:2016-07-18 Published:2016-12-25
  • Corresponding author: bianying Liu
  • About author:
    Corresponding author: Liu bianying, Email:
引用本文:

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, 05(06): 512-517.

Xiaohui Li, Wenjie Zhao, bianying Liu. Advances in the diagnosis and treatment of Lynch syndrome[J]. Chinese Journal of Colorectal Diseases(Electronic Edition), 2016, 05(06): 512-517.

林奇综合征是一种由错配修复基因突变造成的遗传性结直肠癌综合征,属常染色体显性遗传病,过去又称遗传性非息肉病性大肠癌,约占全部大肠癌的5%~15%,错配修复基因的种系突变和微卫星不稳定是其分子遗传学基础。近年来随着分子生物学的进展,林奇综合征的诊断及治疗越来越受到人们的关注,本文就林奇综合征的诊断与治疗进展做一综述。

Lynch syndrome is an autosomal-dominantly colorectal cancer syndromes that caused by germline mutations in mismatch repair (MMR) genes, also known as hereditary non-polyposis colorectal cancer, accounting for about 5%~15% of all colorectal cancer. It is the molecular genetic basis of germline mutations in mismatch repair and microsatellite instability (MSI). With the progress of molecular biology in recent years, people pay more attention to the diagnosis and treatment of Lynch syndrome. This review focuses on the advances in the diagnosis and treatment of Lynch syndrome.

[1]
Vasen HF,Moslein G,Alonso A, et a1.Guidelines for the clinical management of Lynch syndrome(hereditary non-polypasis cancer)[J]. J Med Genet, 2007, 44(6): 353-362.
[2]
Boland CR,Goel A. Microsatellite instability in colorectal cancer[J]. Gastroenterology, 2010, 138(6): 2073-2087.
[3]
Walsh MD,Cummings MC,Buchanan DD, et al. Molecular, pathologic, and clinical features of early-onset endometrial cancer: identifying presumptive Lynch syndrome patients[J]. Clin Cancer Res, 2008, 14(6): 1692-1700.
[4]
袁瑛,黄彦钦,沈虹, 等. 结直肠癌中微卫星不稳定检测的临床意义[J]. 中华结直肠疾病电子杂志, 2013, 2(4): 177-179.
[5]
Herráiz M,Munoz-Navas M.Recognition and management of hereditary colorectal cancer syndromes[J]. Rev Esp Enferm Dig, 2009, 101(2): 125-132.
[6]
Pino MS,Mino-Kenudson M,Wildemore BM, et al. Deficient DNA mismatch repair is common in Lynch syndrome-associated colorectal adenomas[J]. J Mol Diagn, 2009, 11(3): 238-247.
[7]
Lynch HT,Lynch JF,Attard TA. Diagnosis and management of hereditary colorectal cancer syndromes: Lynch syndrome as a model[J]. CMAJ, 2009, 181(5): 273-280.
[8]
Jenkins MA,Baglietto L,Dowty JG, et al. Cancer risks for mismatch repair Gene mutation carriers: a population-based early onset casefamily study[J]. Clin Gastroenterol Hepatol, 2006, 4(4): 489-498.
[9]
Herraiz M,Munoz-Navas M. Recognition and management of hereditary colorectal cancer syndromes[J]. Rev Esp Enferm Dig, 2009, 101(2): 125-132.
[10]
Lengauer, C, K.W. Kinzler, B. Vogelstein.Genetic instabilities in human cancers[J]. Nature, 1998, 396(6712): 643-649.
[11]
Jass JR,Smyrk TC,Stewart SM, et al. Pathology of hereditary non-polyposis colorectal cancer[J]. Anticancer research, 1993, 14(4B): 1631-1634.
[12]
Deschoolmeester V,Baay M,Van Marck E, et al. Tumor infiltrating lymphocytes: an intriguing player in the survival of colorectal cancer patients[J]. BMC immunology, 2010. 11(1): 1.
[13]
Bartley AN,Parikh N,Hsu CH, et al. Colorectal adenoma stem-like cell populations: associations with adenoma characteristics and metachronous colorectal neoplasia[J]. Cancer Prevention Research, 2013, 6(11): 1162-1170.
[14]
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]. Gastroenterology, 1999, 116(6): 1453-1456.
[15]
Umar A,Boland CR,Terdiman JP, et al.Revised Bethesda Guidelinesfor hereditary nonpolyposis colorectal cancer ( lynch syndrome)and microsatelliite instability[J]. J natl Cancer Inst, 2004, 96(4): 261-268.
[16]
Palomaki GE,McClain MR,Melillo S, et al. EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome[J]. Genet Med, 2009, 11(1): 42-65.
[17]
Vasen HF,Stormorken A,Menko FH, et al. MSH2 mutation carriers are at higher risk of cancer than MLH1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families[J]. Journal of Clinical Oncology, 2001, 19(20): 4074-4080.
[18]
Mangold E,Pagenstecher C,Leister M, et al. A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome[J]. Journal of medical genetics, 2004, 41(7): 567-572.
[19]
Hendriks YM,Wagner A,Morreau H, et al. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance[J]. Gastroenterology, 2004, 127(1): 17-25.
[20]
Berends MJ,Wu Y,Sijmons RH, et al. Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant[J]. The American Journal of Human Genetics, 2002, 70(1): 26-37.
[21]
Senter L,Clendenning M,Sotamaa K, et al.The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations[J]. Gastroenterology, 2008, 135(2): 419-428.
[22]
Evaluation of Genomic Applicationsin 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.
[23]
盛剑秋,李世荣,杨欣艳, 等.遗传性非息肉病性大肠癌和家族性腺瘤性息肉病腺瘤的预防性干预治疗[J].中华医学杂志, 2006, 86(14): 526-529.
[24]
Aaltonen LA,Peltomaki P,Leach FS, et al. Clues to the pathogenesis of familial colorectal cancer[J]. Science, 1993, 260 (5109): 812-816.
[25]
Ionov Y,Peinado MA,Malkhosyan S, et al. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis[J]. Nature, 1993, 363(6429): 558-561.
[26]
Ishimaru G,Adachi J,Shiseki M, et al. Microsatellite instability inprimary and metastasis colorectal cancers[J]. Int J Cancer, 1995, 64(3): 153-157.
[27]
房殿春.遗传性非息肉病性大肠癌的诊断与治疗[J]. 中华消化内镜杂志, 2002, 19(7): 190-192.
[28]
顾国利,周晓武,王石林. 遗传性非息肉病性大肠癌的研究进展[J]. 世界华人消化杂志, 2007, 15(29): 3115-3121.
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