A precondition for effective follow-up is knowledge of whether the patient is suffering from the sporadic or the familial form of medullary thyroid cancer (MTC). Mutational analysis of RET proto-oncogene helps to distinguish between these two forms of MTC. In 11.6% of patients with apparent sporadic MTC, a mutation in the RET proto-oncogene is found. This means that these patients have the familial form of MTC, i.e., they suffer from multiple endocrine neoplasia (MEN) type 2 (Table 18.1) . As the clinical presentation may be identical in both forms, every patient with MTC should undergo a mutational analysis of the RET proto-oncogene to distinguish between the sporadic and the familial form (Table 18.2). Patients suffering from MEN 2 have a 50%–100% chance of developing pheochromocytoma and a 10%–20% chance of developing hyperparathyroidism (Table 18.1).
KeywordsThyroid Cancer Medullary Thyroid Carcinoma Multiple Endocrine Neoplasia Type Medullary Thyroid Multiple Endocrine Neoplasia
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