Comparison of dysplastic fundic gland polyps in patients with and without familial adenomatous polyposis

Straub, Shana; Drage, Michael G.; González, Raúl

doi:10.1111/his.13485

Cited by 16 publications

(12 citation statements)

References 33 publications

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“…Serum gastrin levels, which are usually elevated in chronic PPI usage, were found to be normal in a few family members harboring the GAPPS phenotype arguing against a connection of PPI usage and GAPPS 1. In contrast, there are several clinical observations, which imply gastric acid homeostasis and milieu in the natural history of FGPs in family members with a genetic predisposition to GI cancers: while chronic PPI usage has been observed as a risk factor for the development of FGPs, inversely Helicobacter pylori (H. pylori) infections have been reported to be negatively associated with the occurrence of FGPs both in healthy individuals and FAP patients 20–23. In family members afflicted by FAP, regression of FGPs has been described upon acquisition of H. pylori infection 24.…”

Section: Diagnosismentioning

confidence: 99%

Gastric adenocarcinoma and proximal polyposis of the stomach: diagnosis and clinical perspectives

Rudloff

2018

CEG

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Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a recently described, rare gastric polyposis syndrome. It is characterized by extensive involvement of the fundus and body of the stomach with fundic gland polyps sparing the antrum and lesser curvature, an autosomal dominant inheritance pattern with incomplete penetrance, and a significant predisposition for the development of gastric adenocarcinoma. Due to the recent discovery of APC promotor IB mutations (c.-191T>C, c.-192A>G, and c.-195A>C), which reduce binding of the transcription factor Yin Yang 1 (YY1) and transcriptional activity of the promotor, as its underlying genetic perturbation, GAPPS has been added to the growing molecular class of APC-associated disorders. Recent reports on family members afflicted by gastric polyposis due to GAPPS have described the development of metastatic cancer or the presence of invasive gastric adenocarcinoma in total gastrectomy specimens after variable periods of endoscopic surveillance emphasizing the need for an improved understanding of the to-date poorly characterized natural history of the syndrome. There are, however, currently no guidelines on screening, timing of prophylactic gastrectomy, or endoscopic surveillance for GAPPS available. In this review, we summarize the clinical, pathological, and genetic aspects of GAPPS as well as management approaches to this rare cancer predisposition syndrome, highlighting the need for early recognition, a multidisciplinary approach, and the creation of prospective family registries and consensus guidelines in the near future.

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Section: Diagnosismentioning

confidence: 99%

Gastric adenocarcinoma and proximal polyposis of the stomach: diagnosis and clinical perspectives

Rudloff

2018

CEG

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“…In conclusion, we report novel insights on FAP presentation when it is associated with mutations lying in APC extreme C-terminal region, supporting an emerging FAP clinical phenotype, which we termed Gastric Polyposis and Desmoid FAP (GD-FAP). Based on the National Comprehensive Cancer Network guidelines18 for AFAP patients and on the higher risk of developing adenomas that has been observed in FAP patients with FGPs,19 20 in our view, GD-FAP patients should start follow-up at the age of 20 by performing colonoscopy every 2–3 years, esophagogastroduodenoscopy and abdominal ultrasound annually.…”

Section: Discussionmentioning

confidence: 99%

Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end

et al. 2019

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Germline mutations of the APC gene, which encodes a multidomain protein of 2843 amino acid residues, cause familial adenomatous polyposis (FAP). Three FAP clinical variants are correlated with the location of APC mutations: (1) classic FAP with profuse polyposis (>1000 adenomas), associated with mutations from codon 1250 to 1424; (2) attenuated FAP (<100 adenomas), associated with mutations at APC extremities (before codon 157 and after codon 1595); (3) classic FAP with intermediate colonic polyposis (100–1000 adenomas), associated with mutations located in the remaining part of APC. In an effort to decipher the clinical phenotype associated with APC C-terminal germline truncating mutations in patients with FAP, after screening APC mutations in one family whose members (n=4) developed gastric polyposis, colon oligo-polyposis and desmoid tumours, we performed a literature meta-analysis of clinically characterised patients (n=97) harbouring truncating mutations in APC C-terminus. The APC distal mutations identified in this study cluster with a phenotype characterised by colon oligo-polyposis, diffuse gastric polyposis and desmoid tumours. In conclusion, we describe a novel FAP clinical variant, which we propose to refer to as Gastric Polyposis and Desmoid FAP, that may require tailored management.

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“…FAP patients developed FGP with dysplasia earlier and more frequently than non-FAP patients. Regarding beta-catenin immunohistochemical staining, FGP with dysplasia in FAP and non-FAP patients also has a low rate of nuclear positivity (8). In this case, no clinical evidence of FAP occurred and beta-catenin immunohistochemical staining revealed that there was no nuclear positivity.…”

Section: Discussionmentioning

confidence: 99%

Synchronous Three Gastric Fundic Gland Polyps with Low-grade Dysplasia Treated with Endoscopic Mucosal Resection after Being Diagnosed to Be Tubular Adenocarcinoma Based on a Biopsy Specimen

et al. 2019

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A 51-year-old woman had been taking proton pump inhibitor since August 2008. In May, 2016, endoscopic findings showed no atrophy and no intestinal metaplasia in the stomach, and multiple fundic gland polyps were identified in the stomach. A biopsy of a pedunculated polyp measuring 10 millimeters in diameter at the greater curvature of the middle gastric body demonstrated well differentiated tubular adenocarcinoma. In July 2016, we treated this lesion and two other semipedunculated polyps located near the first polyp and also measuring 10 mm in diameter by endoscopic mucosal resection. The final diagnosis of all lesions was a fundic gland polyp with low grade dysplasia and the cutting end was negative.

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Comparison of dysplastic fundic gland polyps in patients with and without familial adenomatous polyposis

Cited by 16 publications

References 33 publications

Gastric adenocarcinoma and proximal polyposis of the stomach: diagnosis and clinical perspectives

Gastric adenocarcinoma and proximal polyposis of the stomach: diagnosis and clinical perspectives

Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end

Synchronous Three Gastric Fundic Gland Polyps with Low-grade Dysplasia Treated with Endoscopic Mucosal Resection after Being Diagnosed to Be Tubular Adenocarcinoma Based on a Biopsy Specimen

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