Matsui T, Hayashi N, Yao K, Yao T, Takenaka K, Hoashi T, Takemura S, Iwashita A, Tanaka A, Koga M
Department of Gastroenterology, Fukuoka University Chikushi Hospital, Chikushino, Japan.
Dis Colon Rectum. 1998 Jun;41(6):797-801. doi: 10.1007/BF02236273.
Typical Turcot's syndrome is characterized by the association of a brain glioma together with multiple colonic polyposis, in which the number of polypoid lesions is small and the association of colonic cancer occurs at a younger age than in familial adenomatous polyposis. We describe a family in which both the father and his son presented with typical Turcot's syndrome without parental consanguinity. This is the first report of a family that is considered to follow an autosomal dominant inheritance. After reviewing 25 documented cases in which the average age of death was 20.3 years old, it was learned that the major cause of death was brain tumor (76 percent) and the minor cause was colon cancer (16 percent). Patients were very young and, therefore, unlikely to have produced a child before their death. These facts seem to support the theory that Turcot's syndrome is an autosomal dominant disorder.
典型的Turcot综合征的特征是脑胶质瘤与多发性结肠息肉病并存，其中息肉样病变数量较少，且结肠癌的发生年龄比家族性腺瘤性息肉病患者要小。我们描述了一个家族，父亲和儿子均患有典型的Turcot综合征，且父母无血缘关系。这是首例被认为遵循常染色体显性遗传的家族报告。在回顾25例有记录的病例后发现，患者平均死亡年龄为20.3岁，主要死因是脑肿瘤（76%），次要死因是结肠癌（16%）。患者非常年轻，因此不太可能在死前生育子女。这些事实似乎支持了Turcot综合征是一种常染色体显性疾病的理论。
