Inflammatory bowel disease and familial adenomatous polyposis |
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| Affiliation: | 2. Bouve College of Health Sciences, Barnett Institute, Northeastern University, Boston, MA, United States;3. Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy;1. Guangzhou Institute of Cardiovascular Disease, Guangdong Key Laboratory of Vascular Diseases, State Key Laboratory of Respiratory Disease, the Second Affiliated Hospital, School of Basic Medical Sciences, Guangzhou Medical University, Guangzhou, Guangdong 510260, China;2. Department of Biochemistry and Molecular Biology, GMU-GIBH Joint School of Life Science, Guangzhou Medical University, Guangzhou 511436, China;3. Faculty of Medicine, Macau University of Science and Technology, Taipa, Macau, China;4. Emergency Department, State Key Laboratory of Organ Failure Research, Nanfang Hospital, Southern Medical University, Guangzhou, China;5. Department of Cardiology, State Key Laboratory of Organ Failure Research, Nanfang Hospital, Southern Medical University, Guangzhou, China;6. Department of Anesthesiology, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China |
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| Abstract: | BackgroundInflammatory bowel disease (IBD) and familial adenomatous polyposis (FAP) are uncommon diseases and both are associated with marked increased risk of colorectal cancer.MethodsWe present a patient diagnosed in parallel with ulcerative colitis and FAP. Mutational analysis of the APC germline and somatic DNA was performed by sequencing.ResultsThis patient's phenotype consisted of polyps only on the right side of the colon (cecum and ascending colon) whereas the area affected by ulcerative colitis (descending colon and rectum) was free of polyps on endoscopy and microscopic adenomas on histology. This raises the possibility that mosaicism or inflammation in the presence of active ulcerative colitis modified the phenotypic expression of adenomatous polyposis in the left colon. Mosaicism was excluded by DNA analysis.DiscussionThis case of a patient diagnosed with both inflammatory bowel disease and familial adenomatous polyposis offers potential insights into the distinct pathogenesis of cancer susceptibility within these syndromes, and suggests that a collision of phenotypes may influence their mutual presentation. Both of these conditions independently increase the risk of colorectal cancer. |
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