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Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.
The American Journal of Gastroenterology ( IF 9.8 ) Pub Date : 2022-04-26 , DOI: 10.14309/ajg.0000000000001755
C Richard Boland 1 , Gregory E Idos 2 , Carol Durno 3, 4 , Francis M Giardiello 5 , Joseph C Anderson 6, 7, 8 , Carol A Burke 9 , Jason A Dominitz 10, 11 , Seth Gross 12 , Samir Gupta 13, 14, 15 , Brian C Jacobson 16 , Swati G Patel 17 , Aasma Shaukat 18, 19 , Sapna Syngal 20, 21, 22 , Douglas J Robertson 6, 7
Affiliation  

The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. The best understood hamartomatous polyposis syndrome is Peutz-Jeghers syndrome, caused by germline pathogenic variants in the STK11 gene. The management is focused on prevention of bleeding and mechanical obstruction of the small bowel by polyps and surveillance of organs at increased risk for cancer. Juvenile polyposis syndrome is caused by a germline pathogenic variant in either the SMAD4 or BMPR1A genes, with differing clinical courses. Patients with SMAD4 pathogenic variants may have massive gastric polyposis, which can result in gastrointestinal bleeding and/or protein-losing gastropathy. Patients with SMAD4 mutations usually have the simultaneous occurrence of hereditary hemorrhagic telangiectasia (juvenile polyposis syndrome-hereditary hemorrhagic telangiectasia overlap syndrome) that can result in epistaxis, gastrointestinal bleeding from mucocutaneous telangiectasias, and arteriovenous malformations. Germline pathogenic variants in the PTEN gene cause overlapping clinical phenotypes (known as the PTEN hamartoma tumor syndromes), including Cowden's syndrome and related disorders that are associated with an increased risk of gastrointestinal and colonic polyposis, colon cancer, and other extraintestinal manifestations and cancers. Due to the relative rarity of the hamartomatous polyposis syndromes, recommendations for management are based on few studies. This US Multi-Society Task Force on Colorectal Cancer consensus statement summarizes the clinical features, assesses the current literature, and provides guidance for diagnosis, assessment, and management of patients with the hamartomatous polyposis syndromes, with a focus on endoscopic management.

中文翻译:

胃肠道错构瘤性息肉病综合征中癌症风险的诊断和管理:美国结直肠癌多社会工作组的建议。

胃肠道错构瘤性息肉病综合征是一种罕见的常染色体显性遗传疾病,与良性和恶性肠道和肠外肿瘤的风险增加有关。它们包括 Peutz-Jeghers 综合征、幼年性息肉病综合征、PTEN 错构瘤肿瘤综合征(包括 Cowden 综合征和 Bannayan-Riley-Ruvalcaba 综合征)和遗传性混合性息肉病综合征。诊断基于临床标准,在某些情况下,通过证明存在种系致病变异来确认。最了解的错构瘤性息肉病综合征是由 STK11 基因中的种系致病变异引起的 Peutz-Jeghers 综合征。管理的重点是预防息肉引起的小肠出血和机械性梗阻,并监测癌症风险增加的器官。幼年性息肉病综合征是由 SMAD4 或 BMPR1A 基因的种系致病变异引起的,具有不同的临床过程。具有 SMAD4 致病性变异的患者可能患有大量胃息肉,这可能导致胃肠道出血和/或蛋白丢失性胃病。具有 SMAD4 突变的患者通常同时发生遗传性出血性毛细血管扩张症(幼年性息肉病综合征-遗传性出血性毛细血管扩张症重叠综合征),可导致鼻出血、皮肤粘膜毛细血管扩张引起的胃肠道出血和动静脉畸形。PTEN 基因中的种系致病变异导致重叠的临床表型(称为 PTEN 错构瘤肿瘤综合征),包括 Cowden' s 综合征和与胃肠道和结肠息肉病、结肠癌和其他肠外表现和癌症风险增加相关的相关疾病。由于错构瘤性息肉病综合征相对罕见,管理建议基于少数研究。这份美国结直肠癌多社会工作组共识声明总结了临床特征,评估了当前文献,并为错构瘤性息肉病综合征患者的诊断、评估和管理提供了指导,重点是内镜管理。
更新日期:2022-04-26
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