Familial Adenomatous Polyposis: Screening, Surgery and Desmoid Tumours
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چکیده
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منابع مشابه
Desmoid tumours in familial adenomatous polyposis
Desmoids are rare, benign fibromatous lesions, which can arise in patients with familial adenomatous polyposis (FAP), a disorder caused by germline adenomatous polyposis coli (APC) gene mutation. This study investigated the risk of desmoids in FAP, the relation between specific APC gene mutations and desmoid formation, and the clinical characteristics ofFAP patients with desmoids. Eighty three ...
متن کاملCOLON CANCER Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation
Background: Many patients with familial adenomatous polyposis (FAP) die from desmoid tumours which can arise spontaneously but often appear to be surgically induced by prophylactic colectomy. FAP results from germline adenomatous polyposis coli (APC) gene mutations and desmoids arise following biallelic APC mutation, with one change usually occurring distal to the second b-catenin binding/degra...
متن کاملA case report of desmoid tumour—a forgotten aspect of FAP?
INTRODUCTION Desmoid tumours are locally aggressive tumours which are common in Familial Adenomatous Polyposis (FAP). PRESENTATION OF CASE A 20-year old Familial Adenomatous Polyposis (FAP) patient presented with abdominal pain and distention. Abdominal imaging showed small bowel obstruction and hydronephrosis due to a pelvic mass. This mass showed significant enlargement on repeat imaging, a...
متن کاملGene Expression Profiling in Familial Adenomatous Polyposis Adenomas and Desmoid Disease
Gene expression profiling is a powerful method by which alterations in gene expression can be interrogated in a single experiment. The disease familial adenomatous polyposis (FAP) is associated with germline mutations in the APC gene, which result in aberrant beta-catenin control. The molecular mechanisms underlying colorectal cancer development in FAP are being characterised but limited inform...
متن کاملFamilial adenomatous polyposis, diagnosis and surveillance strategies: review article
Familial adenomatous polyposis is characterized by over 100 colorectal adenomas in the colorectum. The disease equally affects both sexes, with an incidence estimated at 1.14025-1.8300. The disease is premature in people with familial adenomatous polyposis. Patients suffering from familial adenomatous polyposis have a range of extra-intestinal diseases such as papillae, gastric, small intestine...
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