Vermeil Viviana, D'Amore Linda, Ceci Francesca, Dassatti Maria Rosa, Negro Andrea, Gossetti Francesco, Negro Paolo
U.O.C. Chirurgia Generale M, Dipartimento di Chirurgia Generale P. Stefanini, Università degli Studi di Roma La Sapienza.
Chir Ital. 2008 May-Jun;60(3):355-9.
Familial polyposis coli is a heterogeneous disease with a broad spectrum of clinical manifestations including not only multiple polyposis of the small bowel, but also multiple primary tumours, such as carcinoma of the ampulla of Vater, subcutaneous tumours, bone tumours, central nervous system tumous and gynaecological malignancies. This report is of two brothers with familial polyposis, each showing peculiar distinctive features. In one case, polyposis was diagnosed during emergency surgery for ileo-colic intussusception. The patient later developed a tumour of the uterine cervix. Polyposis coli was identified late in the second patient who showed an evolution towards colonic adenocarcinoma with multiple hepatic metastases. The possible association of familial polyposis and extracolonic malignancies has already been emphasized in the literature. In this report we wish to stress the advisability of periodic gynaecological check-ups in affected patients.
家族性腺瘤性息肉病是一种具有广泛临床表现的异质性疾病，不仅包括小肠多发性息肉，还包括多种原发性肿瘤，如壶腹癌、皮下肿瘤、骨肿瘤、中枢神经系统肿瘤和妇科恶性肿瘤。本报告介绍了两例患有家族性腺瘤性息肉病的兄弟，他们各自表现出独特的特征。其中一例，息肉病是在因回结肠套叠进行急诊手术时被诊断出来的。该患者后来患上了宫颈癌。另一例患者的家族性腺瘤性息肉病诊断较晚，其病情发展为伴有多处肝转移的结肠腺癌。家族性腺瘤性息肉病与结肠外恶性肿瘤之间可能存在的关联在文献中已有强调。在本报告中，我们希望强调对患病患者进行定期妇科检查的可取性。
