Effective Identification of Lynch Syndrome in Gastroenterology Practice.
Effective Identification of Lynch Syndrome in Gastroenterology Practice.
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DOI：
10.1007/s11938-019-00261-2
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发表时间：
2019-12-01
期刊：
影响因子：
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通讯作者：
Weiss, Jennifer M
中科院分区：
文献类型：
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作者：
Muller, Charles;Matthews, Lindsay;Weiss, Jennifer M
综述的目的：从个体患者和公共卫生的角度来看，Lynch综合征的识别是重要的。由于近年来Lynch综合征诊断的范式发生了变化，本文将讨论当前策略的基本原理和局限性，并概述该领域的未来发展方向。近年来，通过对所有新诊断的结直肠癌进行分子方法筛查错配，具有高灵敏度和特异性的修复缺陷。对临床实践中通用检测的实施和结果的研究表明，存在显著的异质性，导致次优吸收并导致诊断差异。新兴技术，如下一代测序，作为Lynch综合征的筛查策略具有重要的前景。林奇综合征的通用测试正在越来越频繁地进行，尽管现实世界的结果已经证明了改进的空间。Lynch综合征诊断的未来方向将涉及优化通用测试工作流程和应用新的遗传学技术。
PURPOSE OF REVIEW: Identification of Lynch syndrome is important from an individual patient and public health standpoint. As paradigms for Lynch syndrome diagnosis have shifted in recent years, this review will discuss rationale and limitations for current strategies as well as provide an overview of future directions in the field.RECENT FINDINGS: In recent years, the use of clinical criteria and risk scores for identification of Lynch syndrome has been augmented by universal testing of all newly diagnosed colorectal cancers with molecular methods to screen for mismatch repair deficiency with high sensitivity and specificity. Studies of implementation and outcomes of universal testing in clinical practice have demonstrated significant heterogeneity that results in suboptimal uptake and contributes to disparities in diagnosis. Emerging technologies, such as next-generation sequencing, hold significant promise as a screening strategy for Lynch syndrome. Universal testing for Lynch syndrome is being performed with increasing frequency, although real-world outcomes have demonstrated room for improvement. Future directions in Lynch syndrome diagnosis will involve optimization of universal testing workflow and application of new genetics technologies.