Abstract
Abstract Multiple endocrine neoplasia (MEN) type 2a (also referred to as type 2) is an inherited cancer syndrome in which an individual has medullary thyroid carcinoma, primary hyperparathyroidism, and/or phaeochromocytoma occurring either synchronously or metachronously. MEN type 2b (also referred to as type 3) comprises early onset medullary thyroid carcinoma and phaeochromocytoma in addition to phenotypical features such as ophthalmologic abnormalities, skeletal malformations, and a generalized ganglioneuromatosis. MEN 2a and 2b (MEN 2 and 3) are caused by germline mutations in the RET proto-oncogene. The proper and timely diagnosis of MEN 2a and MEN 2b will have a direct impact on patients’ quality of life, disease-specific mortality, and overall survival. It will also impact the life of family members at risk of having MEN 2a and 2b. This chapter addresses the epidemiology, genetics, diagnostic approaches, and management of MEN 2a and MEN 2b. In addition, it highlights the importance of genetic counselling for at-risk family members and optimal surveillance strategies in RET germline mutation carriers.
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