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Approach to therapy in multiple endocrine neoplasia type 2

Cornelis J Lips, MD, PhD
Douglas W Ball, MD
Section Editor
Marc K Drezner, MD
Deputy Editor
Jean E Mulder, MD


Multiple endocrine neoplasia type 2 (MEN2) is subclassified into two distinct syndromes: types 2A (MEN2A) and 2B (MEN2B) (table 1). Affected patients have germline mutations in the RET proto-oncogene.

MEN2A is a heritable predisposition to medullary thyroid cancer (MTC), pheochromocytoma, and primary parathyroid hyperplasia. There are four variants of MEN2A.

MEN2B shares the inherited predisposition to MTC and pheochromocytoma found in MEN2A, but there is no parathyroid gland involvement. Patients with MEN2B tend to have, in addition, mucosal neuromas, intestinal ganglioneuromas, and a Marfanoid habitus.

In both syndromes, there is an occurrence of multicentric tumor formation in all organs where the RET proto-oncogene is expressed. This topic will review the therapy of these endocrine tumor syndromes. The classification, genetics, clinical features, diagnosis, and evaluation of MEN2 are discussed separately. (See "Classification and genetics of multiple endocrine neoplasia type 2" and "Clinical manifestations and diagnosis of multiple endocrine neoplasia type 2".)

Treatment of sporadic MTC is also discussed in more detail elsewhere. (See "Medullary thyroid cancer: Treatment and prognosis".)

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Literature review current through: Oct 2017. | This topic last updated: May 15, 2017.
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