Luca Roncucci, Monica Pedroni, Francesco Mariani, Department of Diagnostic and Clinical Medicine, and Public Health, University of Modena and Reggio Emilia, I-41125 Modena, Italy.
World J Gastroenterol. 2017 Jun 21;23(23):4135-4139. doi: 10.3748/wjg.v23.i23.4135.
Attenuated adenomatous polyposis (AAP) is a poorly understood syndrome, that can be defined as the presence of 10-99 synchronous adenomas in the large bowel, and it is considered a phenotypic variant of familial adenomatous polyposis (FAP). This definition has the advantage of simplicity, but it may include sporadic multiple adenomas of the large bowel at an extreme, or FAP cases on the other side. AAP shows a milder phenotype than FAP, with an older age of onset of adenomas and cancer, and less frequent extracolonic manifestations. AAP may be diagnosed as a single case in a family or, less frequently, it may be present in other family members, and it shows distinct pattern of inheritance. In less than 50% of cases, it may be caused by adenomatous polyposis coli () or mutations, referred to as -associated polyposis, inherited as an autosomal dominant trait, or -associated polyposis, which shows an autosomal recessive mechanism of inheritance, respectively. Surveillance should rely on colonoscopy at regular intervals, with removal of adenomas and careful histological examination. When removal of polyps is not possible or advanced lesions are observed, the surgical approach is mandatory, being subtotal colectomy with ileo-rectal anastomosis the treatment of choice. Studies on this syndrome are lacking, and controversies are still present on many issues, thus, other clinical and genetic studies are requested.
attenuated adenomatous polyposis (AAP) 是一种了解甚少的综合征，可以定义为大肠中存在 10-99 个同步腺瘤，并且被认为是家族性腺瘤性息肉病 (familial adenomatous polyposis, FAP) 的表型变异。这个定义具有简单的优点，但它可能包括大肠散发性多发性腺瘤的极端情况，或者另一边的 FAP 病例。AAP 的表型比 FAP 更轻，腺瘤和癌症的发病年龄更大，结肠外表现也较少。AAP 可以在一个家族中诊断为单个病例，或者在其他家庭成员中更常见，并且表现出明显的遗传模式。在不到 50%的病例中，它可能是由腺瘤性结肠息肉病 (adenomatous polyposis coli, APC) 或 MUTYH 基因突变引起的，分别称为 APC 相关息肉病，作为常染色体显性遗传特征遗传，或 MUTYH 相关息肉病，其遗传方式为常染色体隐性遗传。监测应依赖于定期的结肠镜检查，切除腺瘤并进行仔细的组织学检查。当无法切除息肉或观察到进展性病变时，必须采用手术方法，首选全结肠切除术和回肠直肠吻合术。对这种综合征的研究较少，许多问题仍存在争议，因此需要进行其他临床和遗传研究。
