Backes Floor J, Cohn David E
Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, The Ohio State University College of Medicine, Columbus, Ohio 43204, USA.
Clin Obstet Gynecol. 2011 Jun;54(2):199-214. doi: 10.1097/GRF.0b013e3182185a41.
Almost 100 years ago Lynch syndrome was discovered by Dr Aldred Warthin. Initially, the syndrome was named Hereditary Nonpolyposis Colorectal Cancer as colorectal cancer seemed most prevalent. Over time uterine cancer and several other malignancies were recognized as part of the spectrum. This autosomal-dominant inherited cancer syndrome is characterized by a defect in mismatch repair genes and puts patients at a significantly increased risk for colorectal and uterine cancer. Recognition and diagnosis of Lynch syndrome is extremely important so that appropriate screening programs and/or risk-reducing surgery can be initiated to prevent development or promote early detection of cancers.
大约100年前，阿尔德雷德·沃辛博士发现了林奇综合征。最初，该综合征被命名为遗传性非息肉病性结直肠癌，因为结直肠癌似乎最为常见。随着时间的推移，子宫癌和其他几种恶性肿瘤也被确认为该疾病谱的一部分。这种常染色体显性遗传的癌症综合征的特征是错配修复基因存在缺陷，会使患者患结直肠癌和子宫癌的风险显著增加。识别和诊断林奇综合征极为重要，这样才能启动适当的筛查计划和/或降低风险的手术，以预防癌症的发生或促进癌症的早期发现。
