Hoogerbrugge N, Overbeek L I H, de Hullu J, Kets C M, Hebeda K M, Ligtenberg M J L
Universitair Medisch Centrum St. Radboud, Klinische Genetica, Postbus 9101, 65oo HB Nijmegen.
Ned Tijdschr Geneeskd. 2007 Jun 30;151(26):1441-4.
Endometrial cancer diagnosed at a relatively young age or in a patient with a medical history of colorectal cancer may be indicative of Lynch syndrome. Four women, aged 43, 60, 41 and 54 respectively, with a family history of endometrial or colorectal neoplasm were examined for microsatellite instability (MSI) in tumour tissue with positive results. Subsequently, a mutation was found in one of the DNA mismatch repair genes. Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC), is caused by a germline mutation in a mismatch repair gene and is an autosomal dominant disorder that is characterized by the development of carcinoma of the endometrium and colorectum at a relatively young age. Until recently, recognition of Lynch syndrome was mainly based on an, often incomplete, family history, but today the presence of MSI in tumour tissue can be used to identify patients at risk for Lynch syndrome. A pathologist can contribute to identifying a patient at risk for Lynch syndrome by initiating MSI testing when: (a) endometrial cancer is diagnosed under the age of 50, (b) a combination of endometrial cancer and colorectal cancer is diagnosed under the age of 70.
在相对年轻的患者中诊断出的子宫内膜癌，或有结直肠癌病史的患者，可能提示林奇综合征。分别对4名年龄为43岁、60岁、41岁和54岁且有子宫内膜或结直肠肿瘤家族史的女性进行了肿瘤组织微卫星不稳定性（MSI）检测，结果呈阳性。随后，在其中一个DNA错配修复基因中发现了突变。林奇综合征，也称为遗传性非息肉病性结直肠癌（HNPCC），由错配修复基因的种系突变引起，是一种常染色体显性疾病，其特征是在相对年轻时发生子宫内膜癌和结直肠癌。直到最近，林奇综合征的诊断主要基于往往不完整的家族史，但如今肿瘤组织中MSI的存在可用于识别有林奇综合征风险的患者。当出现以下情况时，病理学家可通过启动MSI检测来帮助识别有林奇综合征风险的患者：（a）在50岁以下诊断出子宫内膜癌；（b）在70岁以下诊断出子宫内膜癌和结直肠癌的组合。
