Samowitz Wade S
Department of Pathology, University Medical Center, University of Utah, Salt Lake City, UT, USA.
Mod Pathol. 2015 Jan;28 Suppl 1:S109-13. doi: 10.1038/modpathol.2014.127.
Lynch syndrome is the most common inherited colorectal cancer syndrome, accounting for 2-4% of all colorectal cancer cases. This review focuses on the tissue workup of Lynch syndrome, including methods to determine whether or not a tumor is mismatch repair deficient, and whether a mismatch repair-deficient tumor is sporadic or Lynch syndrome-associated. Strategies for determining which tumors to test and how best to implement a Lynch syndrome screening program are also discussed, as well as potential developments in the future.
林奇综合征是最常见的遗传性结直肠癌综合征，占所有结直肠癌病例的2%-4%。本综述重点关注林奇综合征的组织检查，包括确定肿瘤是否为错配修复缺陷型的方法，以及错配修复缺陷型肿瘤是散发性还是与林奇综合征相关的方法。还讨论了确定哪些肿瘤进行检测以及如何最好地实施林奇综合征筛查计划的策略，以及未来的潜在发展。
