MENl clinical background

Abstract

Multiple endocrine neoplasia Type 1 (MENl) is a rare hereditary tumor syndrome predisposingto tumor development in severalendocrine organs. It smajormanifestations include hyperparathyroidism. tumors of endocrine pancreas and pituitary. Beside these three, severalother endocrine (adrenocortical, foregut carcinoid) and nonendocrin e (lipoma. angiofibroma. collagenoma, ependymoma,meningioma) tumorshavebeen described to be associated with this syndrome. Both familial and sporadic forms ofthe diseaseare known. The diagnosis of MEN 1 can be established if two of the three major manifestations are found in the samepatient. whereas the diagnosis of familial MEN 1 requires one MEN 1 patient and a first degree relative with at least one MEN1 manifestation. MEN 1 is transmitted as an autosomal dominant trait with high penetrance, approaching 9S-100%by the ageof60. Both benign (parathyroid. anterior pituitary) and malignant (gastrinoma. glucagonoma) lesions may develop in MENI patients. Regular surveillanceofMEN1gene mutation carriers is necessary to reveal disease manifestations. Several diagnosticmodalitiescan be used to screen for and to examineMEN l-related tumors. The therapy ofMEN l -associatedtumors requires specific approach in some cases, as multiple tumors and recurrence is frequently observed. © 2009 Landes Bioscience and Springer Science+Business Media.