Microsatellite Instability and Colorectal Cancer
Microsatellite Instability and Colorectal Cancer
复制标题
DOI：
10.5858/arpa.2011-0035-ra
复制
发表时间：
2011-10-01
影响因子：
4.6
通讯作者：
Samowitz, Wade S.
中科院分区：
文献类型：
--
作者：
Geiersbach, Katherine B.;Samowitz, Wade S.
背景-大约15%的结直肠癌以基因组微卫星不稳定为特征，其中约五分之一(总共2%-4%)是由林奇综合征引起的，这是一种主要遗传的疾病，患者易患包括胃肠道在内的多器官系统的癌症。识别患有Lynch综合征的个体可以增加对受影响个体和潜在受影响家庭成员的监测。目的：回顾有关结直肠癌微卫星不稳定性的文献和当前检测Lynch综合征的实验室诊断测试策略。数据来源：本综述基于同行评议的文献、专业组织(国家全面癌症网络基因组应用评估工作组)发布的指南以及进行微卫星不稳定性测试的临床实验室的信息。结论-基因组在实践和预防工作中的应用评估工作组建议在所有受影响的结直肠癌患者中普遍筛查Lynch综合征。初步筛查测试可以确定不太可能受到林奇综合征影响的个人，从而减少对全面基因分析的需要。免疫组织化学和聚合酶链式反应检测微卫星不稳定性具有相似的临床敏感性和特异性，每种方法都有各自的优点和局限性。BRAF和MLH1甲基化检测对于免疫组织化学鉴定出MLH1缺陷的患者是有用的反射试验。新兴技术，如高通量测序，可能会对未来的诊断算法产生重大影响。(ARCH Pathol Lab Med.2011年；13512691277；DOI：10.5858/arpa.2011-0035RA)
Context.-About 15% of colorectal cancers are characterized by genomic microsatellite instability, and of these, about 1 in 5 (2%-4% overall) are due to Lynch syndrome, a dominantly inherited condition predisposing the patient to cancers of multiple organ systems, including the gastrointestinal tract. Identification of individuals with Lynch syndrome allows for increased surveillance of the affected individual and of potentially affected family members.Objective.-To review the literature on microsatellite instability in colorectal cancer and current laboratory diagnostic testing strategies for the detection of Lynch syndrome.Data Sources.-This review is based on peer-reviewed literature, published guidelines from professional organizations (Evaluation of Genomic Applications in Practice and Prevention Working Group, National Comprehensive Cancer Network), and information from clinical laboratories performing microsatellite instability testing.Conclusions.-Universal screening for Lynch syndrome in all individuals affected with colorectal cancer has been recommended by the Evaluation of Genomic Applications in Practice and Prevention Working Group. Preliminary screening tests can identify individuals unlikely to be affected by Lynch syndrome, thereby reducing the need for full gene analysis. Immunohistochemistry and polymerase chain reaction-based tests for microsatellite instability have similar clinical sensitivity and specificity, and each method has advantages and limitations. BRAF and MLH1 methylation testing are useful reflex tests for those with a defect in MLH1 identified by immunohistochemistry. Emerging technologies, such as high-throughput sequencing, may substantially affect diagnostic algorithms in the future. (Arch Pathol Lab Med. 2011;135:1269-1277; doi: 10.5858/arpa.2011-0035-RA)