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Risk factors for advanced duodenal and ampullary adenomatosis in familial adenomatous polyposis: a prospective, single-center study.

ABSTRACT: Background and study aims:?To determine the clinical features associated with advanced duodenal and ampullary adenomas in familial adenomatous polyposis. Secondarily, we describe the prevalence and clinical significance of jejunal polyposis. Patients and methods:?This is a single center, prospective study of 62 patients with familial adenomatous polyposis. Duodenal polyposis was classified according to Spigelman and ampullary adenomas were identified. Patients with Spigelman III and IV duodenal polyposis underwent balloon assisted enteroscopy. Predefined groups according to Spigelman and presence or not of ampullary adenomas were related to the clinical variables: gender, age, family history of familial adenomatous polyposis, type of colorectal surgery, and type of colorectal polyposis. Results:?Advanced duodenal polyposis was present in 13 patients (21?%; 9 male) at a mean age of 37.61?±?13.9 years. There was a statistically significant association between family history of the disease and groups according to Spigelman ( P ?=?0.03). Seven unrelated patients (6 male) presented ampullary adenomas at a mean age of 36.14?±?14.2 years. The association between ampullary adenomas and extraintestinal manifestations was statistically significant in multivariate analysis ( P ?=?0.009). Five endoscopic types of non-ampullary adenoma were identified, showing that lesions larger than 10?mm or with a central depression presented foci of high grade dysplasia. Among 28 patients in 12 different families, a similar Spigelman score was identified; 10/12 patients (83.3?%) who underwent enteroscopy presented small tubular adenomas with low grade dysplasia in the proximal jejunum. Conclusions:?Advanced duodenal polyposis phenotype may be predictable from disease severity in a first-degree relative. Ampullary adenomas were independently associated with the presence of extraintestinal manifestations.

SUBMITTER: Sulbaran M

PROVIDER: S-EPMC5909774 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature

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Risk factors for advanced duodenal and ampullary adenomatosis in familial adenomatous polyposis: a prospective, single-center study.

Sulbaran M M Campos F G FG Ribeiro U U Kishi H S HS Sakai P P de Moura E G H EGH Bustamante-López L L Tomitão M M Nahas S C SC Cecconello I I Safatle-Ribeiro A V AV

Endoscopy international open 20180418 5

<h4>Background and study aims</h4> To determine the clinical features associated with advanced duodenal and ampullary adenomas in familial adenomatous polyposis. Secondarily, we describe the prevalence and clinical significance of jejunal polyposis.<h4>Patients and methods</h4> This is a single center, prospective study of 62 patients with familial adenomatous polyposis. Duodenal polyposis was classified according to Spigelman and ampullary adenomas were identified. Patients with Spigelman III a ...[more]

PMID: 29713679

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Project description:ObjectivesDuodenal cancer in familial adenomatous polyposis (FAP) arises from adenomas. Differentially expressed genes (DEGs) in the duodenal adenoma-carcinoma pathway have been identified in murine FAP models, but similar data in patients with FAP are limited. Identifying such changes may have significance in understanding duodenal polyposis therapies and identifying cancer biomarkers. We performed a genome-wide transcriptional analysis to describe the duodenal adenoma-carcinoma sequence and determine changes distinguishing patients with FAP with and without duodenal cancer.MethodsTranscriptional profiling was performed with the Affymetrix Human Transcriptome Array 2.0 on duodenal biopsies from 12 FAP patients with duodenal cancer (FAP cases) and 12 FAP patients without cancer (FAP controls). DEGs were compared between cancer-normal, adenoma-normal, and cancer-adenoma in FAP cases and between adenomas from FAP cases and FAP controls. Significant results at P < 0.05 were filtered using fold change > 2.ResultsTwo hundred twenty-four DEGs were identified at an absolute fold change > 2. In adenoma-normal, downregulation of DEGs involved in metabolism of brush border proteins (LCT), lipids (APOB/A4), reactive oxygen species (GSTA2), and retinol (RBP2) was observed. In the cancer-adenoma comparison, upregulation of DEGs involved in cell invasion/migration (POSTN, SPP1) and downregulation of DEGs involved in Paneth differentiation (DEFA5/6) were observed. In the adenoma-adenoma comparison, downregulation of several DEGs (CLCA1, ADH1C, ANXA10) in FAP case adenomas was observed. DEGs with therapeutic potential include SPP1, which is involved in both cyclooxygenase and epidermal growth factor receptor pathways targeted by the sulindac/erlotinib combination for duodenal polyposis.DiscussionWe describe DEGs in the human duodenal adenoma-carcinoma sequence in FAP, which may have prognostic and therapeutic significance. Validation studies are needed to confirm these findings.

Dataset Information

Risk factors for advanced duodenal and ampullary adenomatosis in familial adenomatous polyposis: a prospective, single-center study.

Publications

Risk factors for advanced duodenal and ampullary adenomatosis in familial adenomatous polyposis: a prospective, single-center study.

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