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Pregled bibliografske jedinice broj: 37172

Zbornik radova

Autori: Čuković-Čavka, Silvija; Jakić-Razumović, Jasminka; Kapitanović, Sanja; Brkić, Tomislav; Pavelić, Krešimir; Vucelić, Boris
Naslov: Genetic analysis in the differentiation of polyposis syndromes
Izvornik: Conference on Screening and Early Detection of Cancer / Development of a European StrategyBeč :
Skup: Conference on Screening and Early Detection of Cancer
Mjesto i datum: Beč, Austrija, 18-19.11.1999.
Ključne riječi: polyposis syndromes; genetic analysis; APC gene
Sažetak:
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.
Vrsta sudjelovanja: Poster
Vrsta prezentacije u zborniku: Sažetak
Vrsta recenzije: Međunarodna recenzija
Projekt / tema: 00981104
Izvorni jezik: ENG
Kategorija: Znanstveni
Znanstvena područja:
Temeljne medicinske znanosti



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