Fundic Gland Polyps in Familial Adenomatous Polyposis

Abraham, Susan C.; Nobukawa, Bunsei; Giardiello, Francis M.; Hamilton, Stanley R.; Wu, Tsung Teh

doi:10.1016/s0002-9440(10)64588-9

Cited by 200 publications

(33 citation statements)

References 34 publications

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“…Furthermore, some case reports have described high-grade dysplasia or adenocarcinoma in association with FAP-associated FGP, suggesting that FAP-associated FGP is a potential premalignant lesion 29 30 31. As for genetic analysis, previous studies revealed the presence of somatic APC mutations in FAP-associated FGP, indicating neoplastic lesions caused by the inactivation of both alleles, similar to the mechanism of other FAP-associated neoplasms 28 32. Consistent with this, 1 patient with 2 noninvasive neoplasms in FGP who underwent proximal gastrectomy in our study had inactivation of the APC gene as previously reported 31.…”

Section: Discussionmentioning

confidence: 92%

Clinical outcomes of gastric polyps and neoplasms in patients with familial adenomatous polyposis

et al. 2017

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Background and study aims Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome caused by a germline mutation in the adenomatous polyposis coli (APC) gene, characterized by the presence of more than 100 adenomatous polyps in the colorectum. The upper gastrointestinal tract is an extracolonic site for malignancy in patients with FAP. The frequency of death in Japanese patients with FAP because of gastric cancer is 2.8 % and that because of colon cancer is 60.6 %. Few studies have reported upper gastrointestinal diseases in patients with FAP. In the present study, we investigated the clinical outcomes of patients with FAP diagnosed with gastric neoplasms. Patients and methods We enrolled 80 patients with FAP who underwent esophagogastroduodenoscopy from October 1997 to December 2011. We investigated patient characteristics, endoscopic findings of gastric lesions, treatment outcomes, and long-term courses. Results Fundic gland polyposis was observed in 51 patients (64 %) and gastric neoplasms in 22 patients (28 %), including 20 with non-invasive and 2 with invasive neoplasm. Of the 26 neoplasms, 11 were treated by endoscopic resection (ER) and 4 by surgical resection. Metachronous gastric neoplasms were observed in 7 patients (15 lesions) and treated by ER, except for in 1 patient. No patients died of gastric lesions during a median follow-up period of 6.5 years (range, 0 – 14). Conclusion Because gastric lesions including gastric cancers in patients with FAP did not cause any deaths, they can be considered to have favorable prognoses. Early detection of gastric neoplasms through an appropriate follow-up interval may have contributed to these good outcomes.

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Section: Discussionmentioning

confidence: 92%

Clinical outcomes of gastric polyps and neoplasms in patients with familial adenomatous polyposis

et al. 2017

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“…Somatic, second-hit APC alterations precede morphologic dysplasia in many FAP-associated FGPs, indicating that FGPs arising in the setting of FAP are neoplastic lesions. 11 In contrast, sporadic FGPs without dysplasia have mutations in the gene encoding β-catenin ( CTNNB1 ) but lack APC alterations, 12 whereas sporadic FGPs with low-grade dysplasia display APC alterations but usually lack mutations in CTNNB1 . 13 …”

Section: Discussionmentioning

confidence: 99%

Upper GI Tract Lesions in Familial Adenomatous Polyposis (FAP)

Wood

Salaria

Cruise

et al. 2014

American Journal of Surgical Pathology

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109

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Patients with familial adenomatous polyposis (FAP), an autosomal dominant cancer predisposition syndrome caused by mutations in the APC gene, develop neoplasms in both the upper and lower gastrointestinal (GI) tract. To clarify the upper GI tract lesions in FAP patients in a tertiary care setting, we reviewed specimens from 321 endoscopies in 66 patients with FAP. Tubular adenomas in the small bowel were the most common neoplasms (present in 89% of patients), although only 1 patient developed invasive carcinoma of the small bowel. Several types of gastric neoplasms were identified—65% of patients had at least 1 fundic gland polyp, and 23% of patients had at least 1 gastric foveolar–type gastric adenoma. Pyloric gland adenomas were also enriched, occurring in 6% of patients—this is a novel finding in FAP patients. Despite the high frequency of gastric neoplasms, only 1 patient developed carcinoma in the stomach. The very low frequency of carcinoma in these patients suggests that current screening procedures prevent the vast majority of upper GI tract carcinomas in patients with FAP, at least in the tertiary care setting.

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“…Although FGPs in the general population are typically benign lesions, up to 25% of those in FAP patients show foveolar dysplasia (41), and cases of gastric carcinoma associated with diffuse FGP have also been reported (42)(43)(44)(45). In a study of 41 FGPs from 17 FAP patients, 51% of polyps demonstrated an inactivating somatic APC gene alteration, whereas there were no such APC gene mutations in 13 sporadic FGPs used for comparison (46). There was no significant difference in mutation rate among FGPs with or without dysplasia (46).…”

Section: Upper Gastrointestinal Tract Polyps and Cancermentioning

confidence: 99%

“…In a study of 41 FGPs from 17 FAP patients, 51% of polyps demonstrated an inactivating somatic APC gene alteration, whereas there were no such APC gene mutations in 13 sporadic FGPs used for comparison (46). There was no significant difference in mutation rate among FGPs with or without dysplasia (46). These second-hit somatic APC gene alterations, superimposed on germline APC mutations, could account for the neoplastic potential of FGPs in FAP, which appear to be not only clinically, but also pathologically distinct from sporadic lesions.…”

Section: Upper Gastrointestinal Tract Polyps and Cancermentioning

confidence: 99%

Familial Adenomatous Polyposis

Galiatsatos

Foulkes

2006

Am J Gastroenterology

568

372

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Familial adenomatous polyposis (FAP) is an autosomal-dominant colorectal cancer syndrome, caused by a germline mutation in the adenomatous polyposis coli (APC) gene, on chromosome 5q21. It is characterized by hundreds of adenomatous colorectal polyps, with an almost inevitable progression to colorectal cancer at an average age of 35 to 40 yr. Associated features include upper gastrointestinal tract polyps, congenital hypertrophy of the retinal pigment epithelium, desmoid tumors, and other extracolonic malignancies. Gardner syndrome is more of a historical subdivision of FAP, characterized by osteomas, dental anomalies, epidermal cysts, and soft tissue tumors. Other specified variants include Turcot syndrome (associated with central nervous system malignancies) and hereditary desmoid disease. Several genotype-phenotype correlations have been observed. Attenuated FAP is a phenotypically distinct entity, presenting with fewer than 100 adenomas. Multiple colorectal adenomas can also be caused by mutations in the human MutY homologue (MYH) gene, in an autosomal recessive condition referred to as MYH associated polyposis (MAP). Endoscopic screening of FAP probands and relatives is advocated as early as the ages of 10-12 yr, with the objective of reducing the occurrence of colorectal cancer. Colectomy remains the optimal prophylactic treatment, while the choice of procedure (subtotal vs proctocolectomy) is still controversial. Along with identifying better chemopreventive agents, optimizing screening of extracolonic cancers and applying new radiological and endoscopic technology to the diagnosis and management of extracolonic features are the major challenges for the future.

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Fundic Gland Polyps in Familial Adenomatous Polyposis

Abstract: Fundic gland polyps (FGPs) are the most common gastric polyps in both familial adenomatous polyposis (FAP) and sporadic patients.

Cited by 200 publications

References 34 publications

Clinical outcomes of gastric polyps and neoplasms in patients with familial adenomatous polyposis

Clinical outcomes of gastric polyps and neoplasms in patients with familial adenomatous polyposis

Upper GI Tract Lesions in Familial Adenomatous Polyposis (FAP)

Familial Adenomatous Polyposis

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