title: A Patient With Desmoid Tumors and Familial FAP Having Frame Shift Mutation of the APC Gene.
abstract: 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. FAP can develop when there is a germ-line mutation in the adenomatous polyposis coli gene. 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. A 28-year-old woman was admitted to the Cancer Institute of Iran with an abdominal painful mass. She had strong family history of FAP and underwent prophylactic total colectomy. Pre-operative CT scans revealed a large mass. Microscopic observation showed diffuse fibroblast cell infiltration of the adjacent tissue structures. 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. 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. Some of them had desmoid tumor without classical FAP history. 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. The 3΄ extreme of the adenomatous polyposis coli gene is still the best likely location in such families.
authors.affiliation: Department of Medical Oncology, Cancer Research Center, Cancer Institute of Iran, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Sanambar
authors.initials: S
authors.lastname: Sadighi
authors.affiliation: Department of Medical Genetics, Cancer Research Center, Cancer Institute of Iran, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mahsa
authors.initials: M
authors.lastname: Ghaffari-Moghaddam
authors.affiliation: Department of Medical Genetics, Cancer Research Center, Cancer Institute of Iran, Tehran University of Medical Sciences, Tehran, Iran. AND Departement of Medical Genetics, School of Medicine, Tehran University of Medical Genetics, Tehran, Iran.
authors.forename: Mojtaba
authors.initials: M
authors.lastname: Saffari
authors.affiliation: Department of Surgical Oncology, Cancer Research Center, Cancer Institute of Iran, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad Ali
authors.initials: MA
authors.lastname: Mohagheghi
authors.affiliation: Department of Medical Genetics, Cancer Research Center, Cancer Institute of Iran, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Reza
authors.initials: R
authors.lastname: Shirkoohi
mesh_terms: D000008:Abdominal Neoplasms / Q000235:genetics*; D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000328:Adult; D005260:Female; D018221:Fibromatosis, Abdominal / Q000235:genetics*; D016368:Frameshift Mutation; D017491:Genes, APC; D020022:Genetic Predisposition to Disease; D006801:Humans
keywords: APC gene; Desmoids; Familial adenomatous polyposis; Mutation