Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a new autosomal dominant syndrome
Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a new autosomal dominant syndrome
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DOI：
10.1136/gutjnl-2011-300348
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发表时间：
2012-05-01
期刊：
影响因子：
24.5
通讯作者：
Suthers, G. K.
中科院分区：
文献类型：
--
作者：
Worthley, D. L.;Phillips, K. D.;Suthers, G. K.
目的探讨一种新的常染色体显性遗传胃息肉病综合征（autosomaldominantgastricpolyposissyndrome，GAPPS）的临床和病理特点。结果该报告确定了该综合征的临床和病理特征，包括主要的异型增生胃底腺息肉组织学，胃体和胃底的独家参与，结论GAPPS是一种独特的胃息肉病，其发病与幽门螺杆菌感染呈明显的负相关，且为常染色体显性遗传综合征与胃腺癌的显著风险。其特征为常染色体显性遗传的胃底腺息肉病，包括发育不良或胃粘膜型胃腺癌区域，仅限于近端胃，并且没有结直肠或十二指肠息肉病或其他遗传性胃肠癌综合征的证据。
Objective The purpose of this study was the clinical and pathological characterisation of a new autosomal dominant gastric polyposis syndrome, gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS).Methods Case series were examined, documenting GAPPS in three families from Australia, the USA and Canada. The affected families were identified through referral to centralised clinical genetics centres.Results The report identifies the clinical and pathological features of this syndrome, including the predominant dysplastic fundic gland polyp histology, the exclusive involvement of the gastric body and fundus, the apparent inverse association with current Helicobacter pylori infection and the autosomal dominant mode of inheritance.Conclusions GAPPS is a unique gastric polyposis syndrome with a significant risk of gastric adenocarcinoma. It is characterised by the autosomal dominant transmission of fundic gland polyposis, including areas of dysplasia or intestinal-type gastric adenocarcinoma, restricted to the proximal stomach, and with no evidence of colorectal or duodenal polyposis or other heritable gastrointestinal cancer syndromes.