Menko F H, Verheijen R H, Everhardt E, Louwé L A, Wijnen J T, Band S C, Felt-Bersma R J, Vasen H F, Khan P M
Department of Clinical Genetics, Free University Hospital, Amsterdam, The Netherlands.
Gynecol Oncol. 1994 Aug;54(2):171-4. doi: 10.1006/gyno.1994.1188.
Hereditary nonpolyposis colorectal cancer (HNPCC, synonyms: cancer family syndrome, Lynch syndrome) is characterized by the occurrence of colorectal cancer and other primary tumors in susceptible family members. Inheritance is autosomal dominant with high penetrance. Endometrial cancer is the most frequent extracolonic malignancy in gene carriers. The criteria for the diagnosis HNPCC include the occurrence of colorectal cancer in three close relatives. However, not only colorectal cancer but also endometrial cancer may indicate HNPCC. We present a family diagnosed as a probable HNPCC kindred after endometrial cancer was observed in four sisters. One of these patients and the father of the four sisters had had colorectal cancer. This kindred illustrates the importance of recording the family history in patients with endometrial cancer.
遗传性非息肉病性结直肠癌(HNPCC,同义词:癌症家族综合征、林奇综合征)的特征是易感家庭成员中发生结直肠癌和其他原发性肿瘤。遗传方式为常染色体显性遗传,具有高外显率。子宫内膜癌是基因携带者中最常见的结肠外恶性肿瘤。HNPCC的诊断标准包括在三个近亲中发生结直肠癌。然而,不仅结直肠癌,子宫内膜癌也可能提示HNPCC。我们报告了一个家族,在四名姐妹中观察到子宫内膜癌后,该家族被诊断为可能的HNPCC家系。其中一名患者和这四名姐妹的父亲曾患结直肠癌。这个家系说明了记录子宫内膜癌患者家族史的重要性。