Familial polyposis coli and its extracolonic manifestations.
Familial polyposis coli and its extracolonic manifestations.
复制标题
家族性大肠杆菌息肉病及其结肠外表现。
作者：
S. Cohen
本文对30个家族性结肠息肉病家系进行了详细的临床研究。七个“孤立”的情况下也被描述。结果发现，一些家庭没有表现出任何结肠外的表现，但大多数家庭显示不同数量的成员谁有这些表现的不同类型和程度。鉴于一个家族内成员的巨大变异性，结肠息肉病和加德纳综合征可能都是由一个多效性基因引起的。也考虑了与结肠息肉病相关的其他肿瘤现象的发生。许多类型的恶性肿瘤可能发生在这些患者及其家属中，大多数可能是偶然的。与髓母细胞瘤相关的一致发现使得这种关联具有重要意义，但原因尚不清楚。建议“Turcot综合征”一词的使用应比目前更严格。
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.