engleski

Differentiation of Polyposis Syndromes with genetic analysis-identifying risk for cancer

The goal of the study is to show importance of genetic analysis in differentiation of polyposis syndromes, evaluation of the risk for development of colon cancer, making surveillance and screening programs for the patients and their relatives. An 18-year old female was admitted with abdominal pain, diarrhea and weight loss. A diagnosis of polyposos coli was made by colonoscopy. She had some specific extracolonic manifestations ( alopecia, cutaneous hyperpigmentations, arachnodactylia, . Dystrophic changes in the fingernails), so she was suspected to Canada-Cronkhite syndrome. The pathologist confirmed that polyps were tubulovillous adenomas. Methods: Genomic DNAs were isolated from blood of the patient and her relatives. PCR products were analysed by electrophoresis on Spreadex EL300 gel. Results: The genetic analysis confirmed "de novo" germ-line mutation of the APC gene (exon 15, codon 1309) only in the blood of our patient. Conclusion: FAP is a dominantly inherited disease characterized by the development of numerous adenomatous polyps and a high risk of colorectal cancer. On the other hand, malignant degeneration of polyps is the exception rather than the rule in Canada-Cronkhite syndrome. Genetic analysis confirmed diagnosis of FAP. Surgery is the only reasonable management option in FAP, so total proctocolectomy was done as a prophylactic measure for FAP. Genetic analysis of polyposis syndromes is very important in confirming the diagnosis, evaluation of the risk for cancer, making surveillance and screening programs for patients and their relatives.

FAP; colon cancer; genetic

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