Itoh H, Ohsato K, Yao T, Iida M, Watanabe H
Gut. 1979 May;20(5):414-9. doi: 10.1136/gut.20.5.414.
Two sisters with Turcot's syndrome, in which malignant cerebral neoplasms are associated with colonic polyposis, are presented. Cases reported in the literature, including some familial cases, have also been analysed. In familial cases, sex was unrelated to the occurrence of this disease and it was found only among siblings of the same parents and not in other members of the family. There was consanguinity in the parents of the patients in two out of three families. We therefore concluded that the mode of inheritance in this condition is autosomal recessive and that it is genetically distinct from the ordinary form of familial polyposis coli. Support is lent to the absence of an association between the two disorders by a difference in the number, size, and distribution of the colonic polyps found in Turcot's syndrome as compared with familial polyposis coli.
本文报告了两例患有Turcot综合征的姐妹，该综合征表现为恶性脑肿瘤与结肠息肉病相关。同时，对文献中报道的病例，包括一些家族性病例进行了分析。在家族性病例中，性别与该病的发生无关，且仅在同父同母的兄弟姐妹中发现，家族其他成员未患病。三个家族中有两个家族的患者父母存在血缘关系。因此，我们得出结论，这种疾病的遗传方式为常染色体隐性遗传，且在基因上与家族性结肠息肉病的普通形式不同。与家族性结肠息肉病相比，Turcot综合征患者结肠息肉在数量、大小和分布上存在差异，这也支持了这两种疾病之间不存在关联的观点。
