Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) – A Helicobacter-opposite point

Tachecí, Ilja; Repák, Rudolf; Podhola, Miroslav; Benešová, Lucie; Cyrany, Jiří; Bureš, Jan; Kohoutová, Darina

doi:10.1016/j.bpg.2021.101728

Cited by 18 publications

(30 citation statements)

References 84 publications

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“…76 The gastric polyposis in GAPPS typically spares the gastric antrum, instead affecting the oxyntic mucosa of the gastric body and fundus. 76,77 (3) predominantly fundic gland polyps (FGPs), some having regions of dysplasia (or a family member with either dysplastic FGPs or gastric adenocarcinoma); and (4) an autosomal dominant pattern of inheritance. 76 In 2016, the genetic basis of GAPPS was identified as point mutations in promoter 1B of the APC gene, after sequencing confirmed segregation of these variants with GAPPS in all families evaluated.…”

Section: Gastric Adenocarcinoma and Proximal Polyposis Of The Stomach...mentioning

confidence: 99%

“… 76 The gastric polyposis in GAPPS typically spares the gastric antrum, instead affecting the oxyntic mucosa of the gastric body and fundus. 76 , 77 Worthley et al proposed clinical diagnostic criteria for GAPPS as follows: (1) gastric polyps restricted to the body and fundus with no evidence of colorectal or duodenal polyposis; (2) >100 polyps carpeting the proximal stomach in the index case or >30 polyps in a first-degree relative of another case; (3) predominantly fundic gland polyps (FGPs), some having regions of dysplasia (or a family member with either dysplastic FGPs or gastric adenocarcinoma); and (4) an autosomal dominant pattern of inheritance. 76 In 2016, the genetic basis of GAPPS was identified as point mutations in promoter 1B of the APC gene, after sequencing confirmed segregation of these variants with GAPPS in all families evaluated.…”

Section: Introductionmentioning

confidence: 99%

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Endoscopic Surveillance in Patients with the Highest Risk of Gastric Cancer: Challenges and Solutions

Long¹,

Ebrahimzadeh²,

Stanich³

et al. 2022

CMAR

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Gastric cancer is one of the most significant causes of cancer-related morbidity and mortality worldwide. Recognized modifiable risk factors include Helicobacter pylori infection, geographic location, select dietary factors, tobacco use and alcohol consumption. In addition, multiple hereditary cancer predisposition syndromes are associated with significantly elevated gastric cancer risk. Endoscopic surveillance in hereditary gastric cancer predisposition syndromes has the potential to identify gastric cancer at earlier and more treatable stages, as well as to prevent development of gastric cancer through identification of precancerous lesions. However, much uncertainty remains regarding use of endoscopic surveillance in hereditary gastric cancer predisposition syndromes, including whether or not it should be routinely performed, the surveillance interval and age of initiation, cost-effectiveness, and whether surveillance ultimately improves survival from gastric cancer for these high-risk individuals. In this review, we outline the hereditary gastric cancer predisposition syndromes associated with the highest gastric cancer risks. Additionally, we cover current evidence and guidelines addressing hereditary gastric cancer risk and surveillance in these syndromes, along with current challenges and limitations that emphasize a need for continued research in this field.

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Section: Gastric Adenocarcinoma and Proximal Polyposis Of The Stomach...mentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Endoscopic Surveillance in Patients with the Highest Risk of Gastric Cancer: Challenges and Solutions

Long¹,

Ebrahimzadeh²,

Stanich³

et al. 2022

CMAR

View full text Add to dashboard Cite

show abstract

“…However, the explanation remains unclear. There is also an interesting inverse association between Helicobacter pylori infection and hereditary GAPPS [ 97 ].…”

Section: Gastric Cancer: Sporadic and Hereditary Formsmentioning

confidence: 99%

“…If no dysplasia is identified earlier, prophylactic gastrectomy should be offered between 30–35 years or five years earlier than the age when the youngest member of the family developed gastric cancer. It has to be emphasized that endoscopic surveillance can be of a very limited value if voluminous proximal gastric polyposis is present; an underlying gastric adenocarcinoma can be missed easily in these cases [ 14 , 97 ].…”

Section: Endoscopic Evaluation and Surveillance Of Individuals With Inherited Predisposition To Gastric Adenocarcinomamentioning

confidence: 99%

Advances in the Aetiology & Endoscopic Detection and Management of Early Gastric Cancer

Kohoutová

Banks

Bureš

2021

Cancers

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The mortality rates of gastric carcinoma remain high, despite the progress in research and development in disease mechanisms and treatment. Therefore, recognition of gastric precancerous lesions and early neoplasia is crucial. Two subtypes of sporadic gastric cancer have been recognized: cardia subtype and non-cardia (distal) subtype, the latter being more frequent and largely associated with infection of Helicobacter pylori, a class I carcinogen. Helicobacter pylori initiates the widely accepted Correa cascade, describing a stepwise progression through precursor lesions from chronic inflammation to gastric atrophy, gastric intestinal metaplasia and neoplasia. Our knowledge on He-licobacter pylori is still limited, and multiple questions in the context of its contribution to the pathogenesis of gastric neoplasia are yet to be answered. Awareness and recognition of gastric atrophy and intestinal metaplasia on high-definition white-light endoscopy, image-enhanced endoscopy and magnification endoscopy, in combination with histology from the biopsies taken accurately according to the protocol, are crucial to guiding the management. Standard indications for endoscopic resections (endoscopic mucosal resection and endoscopic submucosal dissection) of gastric dysplasia and intestinal type of gastric carcinoma have been recommended by multiple societies. Endoscopic evaluation and surveillance should be offered to individuals with an inherited predisposition to gastric carcinoma.

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“…18 The genetic cause was published 4 years later, with the detection of PVs in the promotor 1B by Li et al 17 Until now, around 100 patients from 25 families have been described in the literature. 19 The penetrance is not complete, and the age of debut of symptoms varies. These patients typically have fundic gland polyposis in the gastric body and are at increased risk of gastric cancer, but lack the colorectal manifestations seen in FAP.…”

Section: Gastric Adenocarcinoma and Proximal Polyposis Syndromementioning

confidence: 99%

Novel Genetic Causes of Gastrointestinal Polyposis Syndromes

Jelsig¹,

Byrjalsen²,

Madsen³

et al. 2021

TACG

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Hereditary polyposis syndromes are characterized by a large number and/or histopathologically specific polyps in the gastrointestinal tract and a high risk of both colorectal cancer and extracolonic cancer at an early age. While the genes responsible for some of the syndromes, eg, APC in familial adenomatous polyposis and STK11 in Peutz-Jeghers syndrome, have been known for decades, novel genetic causes have recently been detected that have shed light on the broader clinical spectrum of syndromes. Genetic diagnoses are important because they can facilitate a personalized surveillance program. Furthermore, at-risk members of the patient's family can be tested and enrolled in surveillance as needed. In some cases, prenatal diagnostics should be offered. In this paper, we describe the development in germline genetics of the hereditary polyposis syndromes over the last 10-12 years, their clinical characteristics, as well as how to implement genetic analyses in the diagnostic pipeline.

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Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) – A Helicobacter-opposite point

Cited by 18 publications

References 84 publications

Endoscopic Surveillance in Patients with the Highest Risk of Gastric Cancer: Challenges and Solutions

Endoscopic Surveillance in Patients with the Highest Risk of Gastric Cancer: Challenges and Solutions

Advances in the Aetiology & Endoscopic Detection and Management of Early Gastric Cancer

Novel Genetic Causes of Gastrointestinal Polyposis Syndromes

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