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Classification and genetics of multiple endocrine neoplasia type 2

Author
Cornelis J Lips, MD, PhD
Section Editor
Marc K Drezner, MD
Deputy Editor
Jean E Mulder, MD

INTRODUCTION

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant disorder with an estimated prevalence of 1 per 30,000 in the general population. MEN2 is characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and primary parathyroid hyperplasia. The genetic defect in MEN2 involves the RET proto-oncogene on chromosome 10. As expected from its autosomal dominant inheritance pattern, men and women with type 2A (MEN2A) are affected in equal proportions.

Although MEN2 is rare, recognition is important both for treatment and for evaluation of family members. MEN2 is often first suspected when a patient is found to have one or more of the tumors, but molecular DNA testing is now available for detecting asymptomatic patients with MEN2.

This topic will review the classification and genetics of the MEN2 syndromes (table 1). The clinical manifestations, diagnosis, and therapy of MEN2 are discussed separately.

(See "Clinical manifestations and diagnosis of multiple endocrine neoplasia type 2".)

(See "Approach to therapy in multiple endocrine neoplasia type 2".)

                  

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Literature review current through: Nov 2016. | This topic last updated: Thu Aug 20 00:00:00 GMT 2015.
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