title: Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation.
abstract: Familial adenomatous polyposis (FAP) is a rare syndrome characterized by the presence of hundreds to thousands of colorectal adenomas and is responsible for less than 1% of all colorectal cancers. The syndrome is also characterized by extra-colorectal features including amongst others upper gastrointestinal tract polyps and desmoid tumors. The syndrome is inherited by an autosomal dominant gene, the adenomatous polyposis coli (APC) gene. We present the physical history, clinical presentation, diagnosis and treatment of a patient with a novel germline APC mutation, the W421X mutation, which resulted in FAP presenting with about a hundred colorectal polyps, gastric hyperplastic polyps and multiple aggressive intra-abdominal and extra-abdominal desmoid tumors.
authors.affiliation: First Surgical Department, General Regional Hospital George Papanikolaou, Thessaloniki, Greece. telonakos@hotmail.com
authors.forename: Orestis
authors.initials: O
authors.lastname: Ioannidis
authors.forename: George
authors.initials: G
authors.lastname: Paraskevas
authors.forename: Stavros
authors.initials: S
authors.lastname: Chatzopoulos
authors.forename: Anastasios
authors.initials: A
authors.lastname: Kotronis
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Papadimitriou
authors.forename: Athina
authors.initials: A
authors.lastname: Konstantara
authors.forename: Apostolos
authors.initials: A
authors.lastname: Makrantonakis
authors.forename: Emmanouil
authors.initials: E
authors.lastname: Kakoutis
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D000328:Adult; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000627:therapeutic use; D018931:Antineoplastic Agents, Hormonal / Q000627:therapeutic use; D001706:Biopsy; D003113:Colonoscopy; D017809:Fatal Outcome; D005260:Female; D018222:Desmoid Tumors / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D005773:Gastroscopy; D018095:Germ-Line Mutation; D006801:Humans; D007813:Laparotomy; D009154:Mutation / Q000235:genetics / Q000502:physiology*; D013467:Sulindac / Q000627:therapeutic use; D013629:Tamoxifen / Q000627:therapeutic use
chemical_list: D000894:Anti-Inflammatory Agents, Non-Steroidal; D018931:Antineoplastic Agents, Hormonal; D013629:Tamoxifen; D013467:Sulindac