From the Departments of Pathology (Drs Dinarvand, Davaro, Doan, Phillips, and Guzman and Ms Ising) and Internal Medicine (Dr Evans), Saint Louis University School of Medicine, Saint Louis, Missouri; and the Department of Pathology, University of Florida, College of Medicine, Gainesville (Dr Lai).
Arch Pathol Lab Med. 2019 Nov;143(11):1382-1398. doi: 10.5858/arpa.2018-0570-RA. Epub 2019 May 9.
CONTEXT.—: Familial adenomatous polyposis (FAP) is a rare genetic disorder with autosomal dominant inheritance, defined by numerous adenomatous polyps, which inevitably progress to colorectal carcinoma unless detected and managed early. Greater than 70% of patients with this syndrome also develop extraintestinal manifestations, such as multiple osteomas, dental abnormalities, and a variety of other lesions located throughout the body. These manifestations have historically been subcategorized as Gardner syndrome, Turcot syndrome, or gastric adenocarcinoma and proximal polyposis of the stomach. Recent studies, however, correlate the severity of gastrointestinal disease and the prominence of extraintestinal findings to specific mutations within the adenomatous polyposis coli gene (), supporting a spectrum of disease as opposed to subcategorization. Advances in immunohistochemical and molecular techniques shed new light on the origin, classification, and progression risk of different entities associated with FAP.
OBJECTIVE.—: To provide a comprehensive clinicopathologic review of neoplastic and nonneoplastic entities associated with FAP syndrome, with emphasis on recent developments in immunohistochemical and molecular profiles of extraintestinal manifestations in the thyroid, skin, soft tissue, bone, central nervous system, liver, and pancreas, and the subsequent changes in classification schemes and risk stratification.
DATA SOURCES.—: This review will be based on peer-reviewed literature and the authors' experiences.
CONCLUSIONS.—: In this review we will provide an update on the clinicopathologic manifestations, immunohistochemical profiles, molecular features, and prognosis of entities seen in FAP, with a focus on routine recognition and appropriate workup of extraintestinal manifestations.
家族性腺瘤性息肉病（FAP）是一种罕见的常染色体显性遗传疾病，其特征为大量腺瘤性息肉，若不早期发现和处理，这些息肉必然会进展为结直肠癌。超过 70%的此类综合征患者还会出现胃肠道外表现，如多发性骨瘤、牙齿异常和各种位于全身各处的其他病变。这些表现既往被分类为 Gardner 综合征、Turcot 综合征或胃腺癌和胃近端息肉病。然而，最近的研究将胃肠道疾病的严重程度和胃肠道外表现的明显程度与腺瘤性息肉病结肠基因（）内的特定突变相关联，支持疾病谱而非分类。免疫组织化学和分子技术的进步为 FAP 相关的不同实体的起源、分类和进展风险提供了新的认识。
全面复习与 FAP 综合征相关的肿瘤性和非肿瘤性实体，重点关注甲状腺、皮肤、软组织、骨骼、中枢神经系统、肝脏和胰腺的胃肠道外表现的免疫组织化学和分子特征的最新进展，以及随后对分类方案和风险分层的改变。
本综述将基于同行评议的文献和作者的经验。
在本综述中，我们将提供 FAP 中所见实体的临床病理表现、免疫组化特征、分子特征和预后的最新信息，重点是对胃肠道外表现的常规认识和适当的检查。
