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遗传性结直肠癌:MUTYH相关息肉病的文献综述

Hereditary Colorectal Tumors: A Literature Review on MUTYH-Associated Polyposis.

作者信息

Kantor Micaella, Sobrado Javier, Patel Sima, Eiseler Sara, Ochner Christopher

机构信息

Kendall Regional Medical Center, Miami, FL, USA.

Larkin Community Hospital, South Miami, FL, USA.

出版信息

Gastroenterol Res Pract. 2017;2017:8693182. doi: 10.1155/2017/8693182. Epub 2017 Sep 25.

Abstract

MAP (MUTYH-associated polyposis) is a syndrome, described in 2002, which is associated with colorectal adenomas, with enhanced colorectal carcinogenesis. This review synthesizes the available literature on MAP and outlines its pathogenesis, association with colorectal tumorigenesis, screening, treatment, and the subtle differences between it and its close cousins-FAP and AFAP. The preponderance of data is collected using MAP guidelines. However, although AFAP and MAP appear similar, potentially important distinctions exist, warranting targeted diagnostic criteria and treatment approaches. We suggest that it may be prudent to screen for MAP earlier than in current clinical practice, as it has been shown that sequence variants are associated with more severe disease, presenting with an earlier onset of colorectal cancer. Finally, we issue a call-to-action for much-needed further data to establish clear clinical and diagnostic criteria.

摘要

MAP(MUTYH相关息肉病)是一种在2002年被描述的综合征,它与结肠直肠腺瘤相关,会增强结肠直肠癌变。本综述综合了关于MAP的现有文献,概述了其发病机制、与结肠直肠肿瘤发生的关联、筛查、治疗以及它与其近亲——家族性腺瘤性息肉病(FAP)和 attenuated FAP(AFAP)之间的细微差异。大部分数据是根据MAP指南收集的。然而,尽管AFAP和MAP看起来相似,但存在潜在的重要区别,需要有针对性的诊断标准和治疗方法。我们建议,鉴于已表明序列变异与更严重的疾病相关,且结肠直肠癌发病更早,在当前临床实践中比以往更早地对MAP进行筛查可能是谨慎之举。最后,我们呼吁采取行动,以获取急需的更多数据来确立明确的临床和诊断标准。

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本文引用的文献

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Curr Genomics. 2008 Sep;9(6):420-35. doi: 10.2174/138920208785699562.

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