Multiple endocrine neoplasia type 2 (MEN 2) is an inherited disease caused by germline mutations in the RET proto-oncogene. The most distinctive MEN 2 variants are MEN 2A, MEN 2B and familial medullary thyroid cancer (FMTC). The hallmark of these syndromes is the development of medullary thyroid carcinoma (MTC), which occurs in almost all patients with MEN 2 syndromes. Other endocrinopathies are variably expressed. Pheochromocytoma and hyperparathyroidism occur in patients with MEN 2A with a frequency of about 50% and 30%, respectively. In this paper we summarize the most relevant diagnostic methods to detect and monitor MTC, pheochromocytoma and hyperparathyroidism.
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