Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation

• DOI: 10.4321/s1130-01082012000300009
• Publication Date: 2012-05-29T10:28:05Z
• Authors: Orestis Ioannidis; George Paraskevas; Stavros Chatzopoulos; Anastasios Kotronis; Nikolaos Papadimi...; Athina Konstantara; Apostolos Makrant...; Emmanouil Kakoutis
• Keywords: Adenomatous polyposis coli

Familial adenomatous polyposis (FAP) is a rare syndrome characterized by the presence of hundreds to thousands colorectal adenomas and responsible for less than 1% all cancers.The also extra-colorectal features including amongst others upper gastrointestinal tract polyps desmoid tumors.The inherited an autosomal dominant gene, coli (APC) gene.We present physical history, clinical presentation, diagnosis treatment patient with novel germline APC mutation, W421X which resulted in FAP presenting about hundred polyps, gastric hyperplastic multiple aggressive intra-abdominal extra-abdominal tumors.