Li F P, Thurber W A, Seddon J, Holmes G E
JAMA. 1987 May 8;257(18):2475-7.
We observed hepatoblastoma in four unrelated children who have a family history of polyposis coli and found this association in ten other kindreds in the literature. The one child in our series who has survived hepatoblastoma showed multiple colonic adenomas at 7 years of age. She and eight affected maternal relatives also had congenital hypertrophy of the retinal pigment epithelium, a new marker of gene carriers in some polyposis coli families. These findings suggest that childhood hepatoblastoma is an associated feature of familial polyposis coli.
我们在4名患有家族性结肠息肉病家族史的非亲缘儿童中观察到肝母细胞瘤，并在文献中发现另外10个家族也存在这种关联。在我们的病例系列中，存活下来的那名患肝母细胞瘤的儿童在7岁时出现了多发性结肠腺瘤。她和8名受影响的母系亲属还患有视网膜色素上皮先天性肥大，这是一些家族性结肠息肉病家族中基因携带者的一种新标志。这些发现表明儿童肝母细胞瘤是家族性结肠息肉病的一个相关特征。
