این سایت در حال حاضر پشتیبانی نمی شود و امکان دارد داده های نشریات بروز نباشند
Acta Medica Iranica، جلد ۵۵، شماره ۲، صفحات ۱۳۴-۱۳۸
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی A Patient With Desmoid Tumors and Familial FAP Having Frame Shift Mutation of the APC Gene
چکیده انگلیسی مقاله 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.
کلیدواژه‌های انگلیسی مقاله Desmoids,Familial adenomatous polyposis,APC gene,Mutation
نویسندگان مقاله صنمبر صدیقی | sanambar sadighi
department of medical oncology, cancer research center, cancer institute of iran, tehran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

مهسا غفاری مقدم | mahsa ghaffari moghaddam
department of medical genetics, cancer research center, cancer institute of iran, tehran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

مجتبی صفاری | mojtaba saffari
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.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

محمد علی محققی | mohammad ali mohagheghi
department of surgical oncology, cancer research center, cancer institute of iran, tehran university of medical sciences, tehran, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

رضا شیرکوهی | reza shirkoohi
department of medical genetics, cancer research center, cancer institute of iran, tehran university of medical sciences, tehran, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (Tehran university of medical sciences)

نشانی اینترنتی http://acta.tums.ac.ir/index.php/acta/article/view/5433
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/56/article-56-347004.pdf
کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده
نوع مقاله منتشر شده Case Report(s)
برگشت به: صفحه اول پایگاه   |   نسخه مرتبط   |   نشریه مرتبط   |   فهرست نشریات