Utility of RET mutation analysis in multiple endocrine neoplasia type 2

Objective.-To review the role of RET mutation analysis in the diagnosis of multiple endocrine neoplasia type 2 (MEN 2) and in presymptomatic screening for this disorder. Data Sources.-Review of the medical literature and current clinical practic e. Conclusions.-RET mutation analysis is a sensitive and specific test for MEN 2. It plays a pivotal role in the diagnosis and management of patients and families with MEN 2 and in the individual who presents with an apparently sporadic medullary thyroid carcinoma or pheochromocytoma. These disorders m ay first come to the attention of either the anatomic or clinical pathologi st, who has the opportunity to see that appropriate testing is done. As wit h any familial disease, professional genetic counseling is an important par t of the care of these patients.