Vasen H F A
Department of Gastroenterology, Leiden University Medical Centre, Leiden, The Netherlands.
Fam Cancer. 2005;4(3):219-25. doi: 10.1007/s10689-004-3906-5.
The Lynch syndrome [Hereditary Nonpolyposis Colorectal Cancer (HNPCC)] is a dominantly inherited syndrome characterized by the development of a variety of cancers including cancer of colorectum, endometrium, and less frequently, cancer of the small bowel, stomach, urinary tract, ovaries, and brain. The syndrome is due to a mutation in one of the DNA-mismatch repair (MMR) genes. The main features of the syndrome are an early age of onset and the occurrence of multiple tumors. Knowledge of the specific features of the syndrome is crucial for the identification of the Lynch syndrome. In previous years, the Amsterdam criteria were used for recognition of the syndrome. Since we know that the Lynch syndrome is caused by an MMR defect and that the hallmark of the syndrome is microsatellite instability (MSI), more attention should be given to the so-called Bethesda guidelines. These guidelines describe practically all clinical conditions in which there is suspicion of the Lynch syndrome and in which a search for MSI is indicated.
林奇综合征[遗传性非息肉病性结直肠癌（HNPCC）]是一种常染色体显性遗传病，其特征是易患多种癌症，包括结直肠癌、子宫内膜癌，较少见的还有小肠癌、胃癌、泌尿道癌、卵巢癌和脑癌。该综合征是由DNA错配修复（MMR）基因之一的突变引起的。该综合征的主要特征是发病年龄早和多发肿瘤。了解该综合征的具体特征对于林奇综合征的诊断至关重要。过去，阿姆斯特丹标准用于识别该综合征。由于我们知道林奇综合征是由MMR缺陷引起的，且该综合征的标志是微卫星不稳定性（MSI），因此应更多关注所谓的贝塞斯达指南。这些指南描述了几乎所有怀疑患有林奇综合征且需要检测MSI的临床情况。
