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    Gastrointestinal Carcinoid Tumors Treatment (PDQ®): Treatment - Health Professional Information [NCI] - General Information About Gastrointestinal Carcinoid Tumors

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    In sporadic GI carcinoids, numerous chromosomal imbalances have been found by comparative genome hybridization analysis. Gains involving chromosomes 5, 14, 17 (especially 17q), and 19 and losses involving chromosomes 11 (especially 11q) and 18 appear to be the most common.[19,20]

    The most frequently reported mutated gene in GI carcinoids is β-catenin (CTNNB1). In one study, β-catenin exon 3 mutations were found in 27 (37.5%) of 72 cases.[21]

    However, no consistent genetic markers for GI carcinoid prognosis have yet been identified.[9] (Refer to the Cellular and Pathologic Classification of Gastrointestinal Carcinoid Tumors section of this summary for more information.)

    Carcinoid syndrome

    Carcinoid syndrome, which occurs in fewer than 20% of patients with carcinoid tumors, is caused by the release of metabolically undergraded vasoactive amines into the systemic circulation. It is associated with flushing, abdominal pain and diarrhea, bronchoconstriction, and carcinoid heart disease.[22,23] Because vasoactive amines are efficiently metabolized by the liver, carcinoid syndrome rarely occurs in the absence of hepatic metastases. Exceptions include circumstances in which venous blood draining from a tumor enters directly into the systemic circulation (e.g., primary pulmonary or ovarian carcinoids, pelvic or retroperitoneal involvement by metastatic or locally invasive small bowel carcinoids, or extensive bone metastases).

    Carcinoid heart disease develops in more than one-third of patients with carcinoid syndrome. Pathologically, the cardiac valves become thickened because of fibrosis, and the tricuspid and pulmonic valves are affected to a greater extent than the mitral and aortic valves. Symptoms include:[22]

    • Tricuspid and pulmonic regurgitation.
    • Pulmonary stenosis.
    • Mitral and aortic insufficiency.
    • Cardiac dysrhythmias.

    Severe carcinoid heart disease is associated with reduced survival. (Refer to the Prognostic Factors section of this summary for more information.)

    Site-Specific Clinical Features

    The clinical features of GI carcinoids vary according to anatomical location and cell type.[5,12,24] Most carcinoids in the GI tract are located within 3 feet (~90 cm) of the ileocecal valve, with 50% found in the appendix.[25] They are often detected fortuitously during surgery for another GI disorder or during emergency surgery for appendicitis, GI bleeding, or perforation.[26]

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