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multiple endocrine neoplasia type 1

 

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary disorder characterized by multiple parathyroid, pancreatic, duodenal, and pituitary neuroendocrine tumors.

Nonendocrine mesenchymal tumors, such as lipomas, collagenomas, and angiofibromas have also been reported.

Etiology

-  germline MEN1 mutations at 11q13

References

-  Agarwal SK, Lee Burns A, Sukhodolets KE, Kennedy PA, Obungu VH, Hickman AB, Mullendore ME, Whitten I, Skarulis MC, Simonds WF, Mateo C, Crabtree JS, Scacheri PC, Ji Y, Novotny EA, Garrett-Beal L, Ward JM, Libutti SK, Richard Alexander H, Cerrato A, Parisi MJ, Santa Anna-A S, Oliver B, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ. Molecular pathology of the MEN1 gene. Ann N Y Acad Sci. 2004 Apr;1014:189-98. PMID: #15153434#

-  Schussheim DH, Skarulis MC, Agarwal SK, Simonds WF, Burns AL, Spiegel AM, Marx SJ. Multiple endocrine neoplasia type 1: new clinical and basic findings. Trends Endocrinol Metab. 2001 May-Jun;12(4):173-8. PMID: #11295574#



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