![]() ![]() Mihalatos, Markos Fountzilas, George Agnantis, Niki J Nasioulas, Georgios Apessos, Angela Dauwerse, Hans Velissariou, Voula Psychias, Aristidis Koliopanos, Alexander Petropoulos, Konstantinos Triantafillidis, John K Danielidis, Ioannisįamilial Adenomatous Polyposis ( FAP) is caused by germline mutations in the APC (Adenomatous Polyposis Coli) gene. ![]() International Nuclear Information System (INIS) Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients The 3΄ extreme of the adenomatous polyposis coli gene is still the best likely location in such families. Even when there is no familial history of adenomatous polyposis, the adenomatous polyposis coli gene mutation should be investigated in cases of familial desmoids tumors for a suitable prevention. Some of them had desmoid tumor without classical FAP history. Analysis of DNA sequencing demonstrated a mutation of 4 bpdeletions at codon 1309-1310 of the exon 16 of adenomatous polyposis coli gene sequence which was repeated in 3 members of the family. Peripheral blood DNA extraction followed by adenomatous polyposis coli gene exon by exon sequencing was performed to investigate the mutation in adenomatous polyposis coli gene. Microscopic observation showed diffuse fibroblast cell infiltration of the adjacent tissue structures. Pre-operative CT scans revealed a large mass. She had strong family history of FAP and underwent prophylactic total colectomy. A 28-year-old woman was admitted to the Cancer Institute of Iran with an abdominal painful mass. Although mild or attenuated FAP may follow mutations in 5΄ extreme of the gene, it is more likely that 3΄ extreme mutations haveamore severe manifestation of thedisease. FAP can develop when there is a germ-line mutation in the adenomatous polyposis coli gene. A Patient With Desmoid Tumors and Familial FAP Having Frame Shift Mutation of the APC Geneĭirectory of Open Access Journals (Sweden)įull Text Available Desmoids tumors, characterized by monoclonal proliferation of myofibroblasts, could occur in 5-10% of patients with familial adenomatous polyposis ( FAP as an extra-colonic manifestation of the disease. ![]()
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