一个家族三代人中的家族性腺瘤性息肉病：病例研究
Familial adenomatous polyposis in three generations of a single family: a case study.
作者信息
Murgic Jure, Kirac Iva, Soldic Zeljko, Tomas Davor, Zovak Mario, Bolanca Ante, Plawski Andrzej, Banasiewicz Y, Kusic Zvonko
机构信息
Department of Oncology and Nuclear Medicine, University Hospital for Tumors, Croatia, Poland.
Department of Surgical Oncology, University Hospital for Tumors, Croatia, Poland.
出版信息
Case Rep Oncol. 2014 May 28;7(2):349-56. doi: 10.1159/000363221. eCollection 2014 May.
BACKGROUND
Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited syndrome characterized by the development of numerous polyps in the colon and rectum. If left untreated, the affected patients inevitably develop colon cancer by the age of 40 years. A resection of the colon (colectomy) or of the colon and rectum (proctocolectomy) is needed to minimize the risk of cancer.
CASE PRESENTATION
We report a case of FAP through three generations of a single family, in which the grandmother and granddaughter underwent total colectomy with ileoanal anastomosis and did not develop colon cancer, while the son underwent subtotal colectomy with ileorectal anastomosis and developed recurrent rectal cancer. Data regarding timely surgery, surveillance, and chemoprevention are discussed.
CONCLUSION
The FAP phenotype determines the type of treatment. In severe polyposis, proctocolectomy with ileoanal anastomosis seems to be the optimal method for minimizing the risk of cancer development. This case report advocates complete rectal removal, especially in cases of poor patient compliance with colonoscopic surveillance.
背景
家族性腺瘤性息肉病（FAP）是一种常染色体显性遗传综合征，其特征是在结肠和直肠中出现大量息肉。如果不进行治疗，受影响的患者在40岁时不可避免地会患上结肠癌。需要切除结肠（结肠切除术）或结肠和直肠（直肠结肠切除术）以将患癌风险降至最低。
病例报告
我们报告了一个单一家族三代人中的FAP病例，其中祖母和孙女接受了全结肠切除回肠肛管吻合术，未患结肠癌，而儿子接受了次全结肠切除回肠直肠吻合术，并患上了复发性直肠癌。讨论了有关及时手术、监测和化学预防的数据。
结论
FAP表型决定治疗类型。在严重息肉病中，全直肠结肠切除回肠肛管吻合术似乎是将癌症发生风险降至最低的最佳方法。本病例报告主张完全切除直肠，尤其是在患者对结肠镜监测依从性差的情况下。
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