Multiple endocrine neoplasia syndrome

Definition

Multiple endocrine neoplasias (MEN) are autosomal dominant syndrome which is characterized by the occurrence of tumors involving two or more endocrine glands. Four major forms of MEN are recognized, namely MEN1, MEN2A, MEN2B and MEN4. MEN1, which is also referred as Wermer's syndrome, is characterized by parathyroid adenoma, gastrinoma, and pituitary adenoma. Gastrinomas are the most common type, leading to the Zollinger-Ellison Syndrome (see H01522). MEN2 are characterized by medullary thyroid cancer (MTC) and includes three subtypes: MEN2A (Sipple's syndrome), MEN2B (MEN3) and familial MTC. MEN2A develop MTC in association with phaeochromocytoma and parathyroid tumors. MEN2B develop MTC in association with marfanoid habitus, mucosal neuromas, medullated corneal fibers and intestinal autonomic ganglion dysfunction, leading to megacolon. MEN4, also referred to as MENX, appears to have signs and symptoms similar to those of type 1. However MEN4 patients have mutations in other genes. The mutations in their responsible genes are found in Each MEN syndrome.

References:

[1]. Alberto Falchetti, et al. Multiple endocrine neoplasms. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):149-63. [Content Brief]

[2]. Gerard V Walls, et al. Multiple endocrine neoplasia (MEN) syndromes. Semin Pediatr Surg. 2014 Apr;23(2):96-101. [Content Brief]

[3]. Koen Ma Dreijerink, et al. Mechanisms of disease: multiple endocrine neoplasia type 1-relation to chromatin modifications and transcription regulation. Nat Clin Pract Endocrinol Metab. 2006 Oct;2(10):562-70. [Content Brief]

[4]. Natalia S Pellegata, et al. Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci U S A. 2006 Oct 17;103(42):15558-63. [Content Brief]

[5]. Rajesh V Thakker, et al. Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4). Mol Cell Endocrinol. 2014 Apr 5;386(1-2):2-15. [Content Brief]

[6]. Stephen J Marx, et al. Molecular genetics of multiple endocrine neoplasia types 1 and 2. Nat Rev Cancer. 2005 May;5(5):367-75. [Content Brief]

[7]. Tobias Carling, et al. Multiple endocrine neoplasia syndrome: genetic basis for clinical management. Curr Opin Oncol. 2005 Jan;17(1):7-12. [Content Brief]

[8]. Vipul T Lakhani, et al. The multiple endocrine neoplasia syndromes. Annu Rev Med. 2007;58:253-65. [Content Brief]

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