Cohen S B
J Med Genet. 1982 Jun;19(3):193-203. doi: 10.1136/jmg.19.3.193.
A detailed clinical study of 30 families with familial polyposis coli is presented. Seven 'isolated' cases are also described. It was found that some families did not exhibit any extracolonic manifestations, but the majority of families showed various numbers of members who had these manifestations of differing types and degrees. In view of the great variability within the members of a family, polyposis coli and the Gardner syndrome are probably both produced by one pleiotropic gene. The occurrence of other neoplastic phenomena in association with polyposis coli has been considered. Many types of malignancy can occur in these patients and their families and the majority are probably fortuitous. The consistent finding of an association with medulloblastoma is such as to make this association of significance, but no reason is known for this. It is suggested that the term 'Turcot syndrome' should be used in a more restrictive manner than at present.
本文对30个家族性结肠息肉病家族进行了详细的临床研究。还描述了7例“散发性”病例。发现一些家族没有任何结肠外表现，但大多数家族有不同数量的成员出现了不同类型和程度的这些表现。鉴于家族成员间存在很大变异性，结肠息肉病和加德纳综合征可能均由一个多效基因引起。已考虑到与结肠息肉病相关的其他肿瘤现象。这些患者及其家族中可发生多种类型的恶性肿瘤，且大多数可能是偶然发生的。与髓母细胞瘤相关的一致性发现具有重要意义，但尚不清楚其原因。建议“Turcot综合征”这一术语应比目前使用得更为严格。
