Markow Michael, Chen Wei, Frankel Wendy L
Department of Pathology, The Ohio State University Wexner Medical Center, 129 Hamilton Hall, 1645 Neil Avenue, Columbus, OH 43210, USA.
Department of Pathology, The Ohio State University Wexner Medical Center, 129 Hamilton Hall, 1645 Neil Avenue, Columbus, OH 43210, USA.
Surg Pathol Clin. 2017 Dec;10(4):977-1007. doi: 10.1016/j.path.2017.07.012.
At least 15% of colorectal cancers diagnosed in the United States are deficient in mismatch repair mechanisms. Most of these are sporadic, but approximately 3% of colorectal cancers result from germline alterations in mismatch repair genes and represent Lynch syndrome. It is critical to identify patients with Lynch syndrome to institute appropriate screening and surveillance for patients and their families. Exclusion of Lynch syndrome in sporadic cases is equally important because it reduces anxiety for patients and prevents excessive spending on unnecessary surveillance. Immunohistochemistry is one of the most widely used screening tools for identifying patients with Lynch syndrome.
在美国诊断出的结直肠癌中,至少15%存在错配修复机制缺陷。其中大多数是散发性的,但约3%的结直肠癌是由错配修复基因的种系改变引起的,代表林奇综合征。识别林奇综合征患者对于为患者及其家属制定适当的筛查和监测至关重要。在散发性病例中排除林奇综合征同样重要,因为这可以减轻患者的焦虑,并防止在不必要的监测上过度支出。免疫组织化学是识别林奇综合征患者最广泛使用的筛查工具之一。