家族性腺瘤性息肉病诊断与治疗的革命性进展。
Revolutionary advances in the diagnosis and treatment of Familial Adenomatous Polyposis.
作者信息
Edlich Richard, Cross Catherine L, Wack Courtney A, Chase Margot E, Gubler K, Long William B
机构信息
University of Virginia Health System, VA, USA.
出版信息
J Environ Pathol Toxicol Oncol. 2009;28(1):47-52. doi: 10.1615/jenvironpatholtoxicoloncol.v28.i1.50.
During the last 25 years, there have been revolutionary advances in the treatment of Familial Adenomatous Polyposis (FAP). The purpose of this article is to describe the pathophysiology, genetic testing, surveillance, surgical interventions, and psychosocial issues. The genetic defect in FAP is germline mutation in the adenomatous polyposis coli (APC) gene. Syndromes once thought to be distinct from FAP are now recognized to be part of the phenotypic spectrum of FAP. Syndromes with a germline mutation in the APC gene include FAP, Gardner syndrome, Turcot syndrome, and Attenuated Adenomatous Polyposis Coli (AAPC). FAP is a germline mutation in the APC gene with onset of florid polyposis in childhood and development of colorectal cancer by age 30. Colectomy is advised because of the high risk of developing colorectal cancer. AAPC is a variant of this condition with later age of onset and milder clinical phenotype. However, colectomy is advised once polyposis develops and polyps cannot be managed endoscopically. Despite the unique advances in genetic testing, psychosocial management of these syndromes remains to be a challenging problem.
在过去25年里,家族性腺瘤性息肉病(FAP)的治疗取得了革命性进展。本文旨在描述其病理生理学、基因检测、监测、手术干预及社会心理问题。FAP的基因缺陷是腺瘤性息肉病 coli(APC)基因的种系突变。曾被认为与FAP不同的综合征现在被认为是FAP表型谱的一部分。APC基因种系突变的综合征包括FAP、加德纳综合征、Turcot综合征和attenuated腺瘤性息肉病 coli(AAPC)。FAP是APC基因的种系突变,儿童期出现明显息肉病,30岁前发展为结直肠癌。由于患结直肠癌的风险高,建议进行结肠切除术。AAPC是这种情况的一种变体,发病年龄较晚,临床表型较轻。然而,一旦息肉病发展且息肉无法通过内镜处理,建议进行结肠切除术。尽管基因检测有独特进展,但这些综合征的社会心理管理仍然是一个具有挑战性的问题。