Fundic gland polyposis
Fundic gland polyposis | |
---|---|
Endoscopic image of fundic gland polyps taken on retroflexion of gastroscope. | |
Specialty | Gastroenterology |
Fundic gland polyposis is a medical syndrome where the
Presentation
Most patients with fundic gland polyps (FGPs) do not have any symptoms, and the diagnosis is made on
- epigastricpain
- nausea
- vomiting
- weight loss
The polyps on endoscopy are usually tiny, numerous and
Disease associations
FGPs can be found in association with the following genetic conditions:[4]
- familial adenomatous polyposis|[6]
- attenuated familial adenomatous polyposis syndromes
- gastric adenocarcinoma associated with proximal polyposis of the stomach (GAPPS): this condition, described in three families[9] is characterized by development of antral adenomas and FGPs, with early development of severe dysplasia and gastric cancer, in absence of overt intestinal polyposis. This condition has been recently characterized by a point mutation in exon 1B of APC gene.[10]
Sporadic FGPs[1] have been associated with:
- chronic use of
- Helicobacter pylori infection: there is a reverse relationship between infection and fundic gland polyps, and infection by H pylori causes polyps regression.[15][16]
Pathophysiology
The development of polyps depends on the underlying disorder.[17] In sporadic cases of FGPs, more than 90% of patients have activating mutations in the β-catenin gene, so that they may be considered "neoplastic" polyps.[18]
In familial adenomatous polyposis, the abnormality is a mutation in the APC gene, resulting in its inactivity. Attenuated FAP can occur from other mutations in the APC gene, and causes a
Both the β-catenin gene and the APC gene are involved in the same cell growth signalling pathway, but the APC gene is known to have a significantly higher association with the development of colorectal tumors.[19]
Diagnosis
The most important consideration in evaluating patients with FGPs is distinguishing between sporadic form (patients without any other gastrointestinal condition, usually in middle age with female prevalence) and syndromic form. This is to ascertain the risk of development of
Screening
There is a risk of development of cancer with fundic gland polyposis,[22] but it varies based on the underlying cause of the polyposis.[4] The risk is highest with congenital polyposis syndromes, and is lowest in acquired causes.[4][23] As a result, it is recommended that patients with multiple fundic polyps have a colonoscopy to evaluate the colon.[4] If there are polyps seen on colonoscopy, genetic testing and testing of family members is recommended.[4] In the gastric adenocarcinoma associated with proximal polyposis of the stomach (GAPPS), there is a high risk of early development of proximal gastric adenocarcinoma.[9][10]
It is still unclear which patients would benefit with surveillance
Treatment
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References
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- ^ "Familial Adenomatous Polyposis". The Lecturio Medical Concept Library. Retrieved 22 July 2021.
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- ^ "Gastric Cancer: Pathology and Genetics". ScienceDirect. Retrieved 22 July 2021.
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- ^ "Gastric Cancer". The Lecturio Medical Concept Library. Retrieved 22 July 2021.
- ^ "Colon Cancer Treatment (PDQ®)". NCI. May 12, 2014. Archived from the original on July 5, 2014. Retrieved June 29, 2014.
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