Upper GI Tract Lesions in Familial Adenomatous Polyposis (FAP)

Wood, Laura D.; Salaria, Safia N.; Cruise, Michael; Giardiello, Francis M.; Montgomery, Elizabeth A.

doi:10.1097/pas.0000000000000146

Cited by 113 publications

(56 citation statements)

References 19 publications

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“…Unfortunately, a direct morphological comparison of sporadic and FAP associated PGAs could not be performed. However, it is felt that our group is well equipped to compare our findings in PGAs in FAP to the existing literature on sporadic pyloric and oxyntic gland adenomas since several authors of the current study significantly contributed to this field 1, 3–5, 9, 15, 17, 18 . Unfortunately previous studies on PGAs in FAP did provide extensive morphological assessment of these polyps 3, 7 …”

Section: Discussionmentioning

confidence: 88%

“…Genetic analysis showed GNAS mutations in 63% of sporadic PGAs but not in sporadic gastric foveolar and intestinal adenomas 6 . In contrast to sporadic PGAs, PGAs in FAP patients arise in pristine oxyntic mucosa wholly lacking gastritis, at least in a North American population 3 . Little is known about the morphologic, immunohistochemical and genetic characteristics of PGAs in FAP.…”

Section: Introductionmentioning

confidence: 95%

“…2 In addition, gastric pyloric gland adenomas (PGAs) were recently described as a novel manifestation of Familial Adenomatous Polyposis (FAP), occurring in in 6% of these patients. 3 …”

Section: Introductionmentioning

confidence: 99%

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Morphology and genetics of pyloric gland adenomas in familial adenomatous polyposis

et al. 2016

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Background Gastric pyloric gland adenomas (PGAs) are rare epithelial polyps that are more commonly found in autoimmune atrophic gastritis and familial adenomatous polyposis. Little is known about the morphology and genetics of PGAs in familial adenomatous polyposis. Aims PGAs in familial adenomatous polyposis are studied morphologically and genetically. Findings in FAP associated PGAs are compared to sporadic PGAs and related lesions such as oxyntic gland adenoma (OGA) to increase our understanding of these rare polyps. Methods 7 PGAs and 18 FGPs from FAP patients were collected. KRAS and GNAS mutations we determined in 6 PGAs and 18 FGPs. Immunohistochemistry was applied on 5 PGAs to provide further confirmation of the histologic subtypes and genetic alterations. Morphology of all PGAs was studied and compared to literature on sporadic PGAs and related lesions. Results All successfully sequenced PGAs (6/6) carried a GNAS mutations and half of the successfully sequenced PGAs carried a KRAS mutation (3/6). Nuclear β-catenin was only seen in one PGS with focal high-grade dysplasia. Morphologically, PGAs in FAP showed overlapping features with OGA. Conclusion FAP associated PGAs have a similar genetic background, i.e. KRAS and GNAS mutation. Based on morphological findings in FAP associated PGAs it is hypothesized that PGAs and OGAs are closely related lesions.

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Section: Discussionmentioning

confidence: 88%

Section: Introductionmentioning

confidence: 95%

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Morphology and genetics of pyloric gland adenomas in familial adenomatous polyposis

et al. 2016

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“…Gastric tumors that have been described as oxyntic gland adenomas and pyloric gland adenomas have differentiation along the lines of chief and parietal cells (oxyntic gland adenomas) and antral/cardiac type glands (pyloric gland adenoma), respectively. Additionally, some gastric polyps that arise in patients with familial adenomatous polyposis (FAP) can be classified as pyloric gland adenomas and also harbor GNAS mutations despite the history of FAP and its associated germline APC mutations [17,18]. …”

Section: Discussionmentioning

confidence: 99%

Patients with McCune-Albright syndrome have a broad spectrum of abnormalities in the gastrointestinal tract and pancreas

et al. 2017

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McCune-Albright Syndrome (MAS) is a rare sporadic syndrome caused by post-zygotic mutations in the GNAS oncogene, leading to constitutional mosaicism for these alterations. Somatic activating GNAS mutations also commonly occur in several gastrointestinal and pancreatic neoplasms, but the spectrum of abnormalities in these organs in patients with MAS has yet to be systematically described. We report comprehensive characterization of the upper gastrointestinal tract in seven patients with MAS and identify several different types of polyps, including gastric heterotopia/metaplasia (7/7), gastric hyperplastic polyps (5/7), fundic gland polyps (2/7), and a hamartomatous polyp (1/7). In addition, one patient had an unusual adenomatous lesion at the gastroesophageal junction with high-grade dysplasia. In the pancreas, all patients had endoscopic ultrasound findings suggestive of intraductal papillary mucinous neoplasm (IPMN), but only 2 patients met the criteria for surgical intervention. Both of these patients had IPMNs at resection, one with low-grade dysplasia and one with high-grade dysplasia. GNAS mutations were identified in the majority of lesions analyzed, including both IPMNs and the adenomatous lesion from the gastroesophageal junction. These studies suggest that there is a broad spectrum of abnormalities in the gastrointestinal tract and pancreas in patients with MAS, and that patients with MAS should be evaluated for gastrointestinal pathology, some of which may warrant clinical intervention due to advanced dysplasia.

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“…Alternatively, intestinal and/or pyloric differentiation may be the initiating events for transformation. Of interest, gastric polyps displaying pyloric gland differentiation have also been reported in patients with both Lynch syndrome and familial adenomatous polyposis, 24,25 presumably through different mechanisms compared with those observed by us in JPS.…”

Section: Discussionmentioning

confidence: 50%

Upper Tract Juvenile Polyps in Juvenile Polyposis Patients

Giardiello

Montgomery

2014

American Journal of Surgical Pathology

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Patients with juvenile polyposis syndrome (JPS), a hereditary autosomal dominant hamartomatous polyposis syndrome, are at increased risk for colorectal adenocarcinoma. The upper gastrointestinal tract is less often involved by JPS than the colorectum, and, consequently, upper tract juvenile polyps (JPs) are not well studied. We reviewed upper endoscopies and corresponding biopsies in JPS patients documented in our Polyposis Registry. A total of 199 upper gastrointestinal biopsies from 69 endoscopies were available in 22 of 41 (54%) JPS patients. Thirteen of the 22 patients (59%) had ≥1 gastric JP; 5 also had 6 small bowel JPs. Gastric JP was identified as early as age 7 in a patient with an SMAD4 gene mutation. Two patients (9%) had high-grade dysplasia in gastric JP. Invasive adenocarcinoma was diagnosed in the gastrectomy specimen of 1 patient. Five patients had a huge gastric polyp burden; 3 underwent total gastrectomy. Three patients died of complications associated with extensive upper JP. Histologically, 8 of the 56 (14%) gastric JPs identified had dysplasia. All of the 8 polyps demonstrated intestinalized and pyloric gland differentiation intermixed with foveolar epithelium. Dysplasia was seen arising in all 3 types of epithelium. The flat gastric mucosa in 11 patients was unremarkable without inflammation or intestinal metaplasia. The 6 small bowel JPs had no dysplasia. Our findings suggest that JPS patients are at increased risk for gastric adenocarcinoma. Detection of malignancy in syndromic gastric JP indicates that the current screening procedures are insufficient in removal of precursor lesions to prevent progression to carcinoma.

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Upper GI Tract Lesions in Familial Adenomatous Polyposis (FAP)

Cited by 113 publications

References 19 publications

Morphology and genetics of pyloric gland adenomas in familial adenomatous polyposis

Morphology and genetics of pyloric gland adenomas in familial adenomatous polyposis

Patients with McCune-Albright syndrome have a broad spectrum of abnormalities in the gastrointestinal tract and pancreas

Upper Tract Juvenile Polyps in Juvenile Polyposis Patients

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