Division of Hematology/Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Division of Gastroenterology and Hepatology, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Gastrointest Endosc Clin N Am. 2022 Jan;32(1):95-112. doi: 10.1016/j.giec.2021.08.003.
The goal of this review is to provide an overview of evaluating patients with adenomatous polyposis of the colon, including elements such as generating a differential diagnosis, referral considerations for genetic testing, genetic testing options, and expected outcomes from genetic testing in these individuals. In more recent years, adenomatous colonic polyposis has evolved beyond the more robustly characterized familial adenomatous polyposis (FAP) and MUTYH-associated polyposis (MAP) now encompassing more newly described genes and associated syndromes. Technological innovation, from whole-exome sequencing to multigene panel testing, has dramatically increased the amount of genotypic and phenotypic data amassed in adenomatous polyposis cohorts, which has contributed greatly to informing diagnosis and clinical management of affected individuals and their families.
本文旨在概述结直肠腺瘤性息肉病患者的评估，包括鉴别诊断、遗传检测的转介考虑、遗传检测选项，以及此类患者的遗传检测预期结果。近年来，结直肠腺瘤性息肉病的研究已超越了更为明确的家族性腺瘤性息肉病（FAP）和 MUTYH 相关息肉病（MAP），现在涵盖了更多新描述的基因和相关综合征。从全外显子测序到多基因panel 检测的技术创新，极大地增加了结直肠腺瘤性息肉病患者队列中的基因型和表型数据，这为患者及其家属的诊断和临床管理提供了重要信息。
