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Clinical manifestations and diagnosis 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 subclassified into two distinct syndromes: types 2A (MEN2A) and 2B (MEN2B). Within MEN2A, there are four variants: classical MEN2A, MEN2A with cutaneous lichen amyloidosis (CLA), MEN2A with Hirschsprung disease (HD), and familial medullary thyroid cancer (FMTC) (table 1) [1].

The genetic defect in these disorders involves the RET proto-oncogene on chromosome 10. MEN2A and 2B are inherited in an autosomal dominant pattern with very high penetrance. In both syndromes, there is an occurrence of multicentric tumor formation in all organs where the RET proto-oncogene is expressed. The thyroid, parathyroid, and adrenal glands are at risk for developing tumors that may reduce life expectancy and quality of life. The excellent prognosis for medullary thyroid cancer (MTC) diagnosed at its earliest stage underscores the importance of early diagnosis for sporadic and hereditary MTC [2].

This topic will review the clinical manifestations, diagnosis, and evaluation of MEN2. The genetics and treatment of this disorder are discussed separately. Sporadic MTC is also discussed separately.

(See "Classification and genetics 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+00:00 2015.
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