engleski

Genetic analysis in the differentiation of polyposis syndromes

The purpose of this study is to show importance of genetic analysis in differentiation of polyposis syndromes and evaluation of the risk for development of colon cancer. An 18-year-old female was admitted with abdominal pain, diarrhea and weight loss. A diagnosis of polyposis coli was made by colonoscopy. Our patient had some specific extracolonic manifestations (alopecia, cutaneous hyperpigmentations, arachnodactylia, dystrophic changes in the fingernails) so she was suspected to Canada-Cronkhite syndrome. Pathologist confirmed that polyps were tubulovillous adenomas. Methods: DNA-PCR detection of germ-line mutations of the APC gene. Results: The genetic analysis confirmed the germ-line mutation of the APC gene (exon 15, codon 1309). Conclusion: Familial adenomatous polyposis (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 to our patient.

polyposis syndromes; genetic analysis; APC gene

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