Multiple Endocrine Neoplasia Type 1 with Multiple Leiomyomas Linked to a Novel Mutation in the MEN1 Gene

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Multiple Endocrine Neoplasia Type 1 with Multiple Leiomyomas Linked to a Novel Mutation in the MEN1 Gene

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominantly inherited syndrome. MEN1 is characterized by the presence of functioning and nonfunctioning tumors or hyperplasia of the pituitary gland, parathyroid glands, and pancreatic islet cells. In addition, MEN1 carriers can have adrenal or thyroid tumors and non-endocrine tumors, such as lipomas, angiofibromas, and leiomyomas. Altho...

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A novel MEN1 mutation in a Japanese adolescent with multiple endocrine neoplasia type 1

Multiple endocrine neoplasia type 1 (MEN1; OMIM 131100) is an autosomal-dominant hereditary endocrine tumor syndrome. It is characterized by the combined development of anterior pituitary adenomas, adenomas or hyperplasia of the parathyroid glands, and gastroenteropancreatic neuroendocrine tumors (GEPNETs) in a single patient. Germline mutations in the menin gene (MEN1) account for the developm...

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Multiple endocrine neoplasia (MEN) is characterized by the occurrence of tumors involving two or more endocrine glands within a single patient. Four major forms of MEN, which are autosomal dominant disorders, are recognized and referred to as: MEN type 1 (MEN1), due to menin mutations; MEN2 (previously MEN2A) due to mutations of a tyrosine kinase receptor encoded by the rearranged during transf...

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Multiple endocrine neoplasia type 1 (MEN1) is an inherited tumour syndrome characterized by the development of tumours of the parathyroid, anterior pituitary and pancreatic islets, etc. Heterozygous germ line mutations of MEN1 gene are responsible for the onset of MEN1. We investigated the probands and 31 family members from eight unrelated Chinese families associated with MEN1 and identified f...

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ژورنال

عنوان ژورنال: Yonsei Medical Journal

سال: 2008

ISSN: 0513-5796

DOI: 10.3349/ymj.2008.49.4.655