Clinical genetic of medullary thyroid carcinoma
Journal Title: Postępy Nauk Medycznych - Year 2015, Vol 28, Issue 1
Abstract
Medullary thyroid carcinoma (MTC) is a neuroendocrine malignant neoplasm, developing from the parafollicular thyroid cells. These cells, arising from the neural crest, migrate from the fifth branchial cleft into thyroid gland during the embryogenesis. They secrete calcitonin, a peptide hormone, facilitating calcium transition from blood to bones.MTC occurs in the sporadic and hereditary form, which presence is related to the RET protooncogene germline mutations. Hereditary form of MTC can be divided into familial medullary thyroid carcinoma (FMTC) without any other endocrinopathies and as a part of multiple endocrine neoplasia type 2 (MEN 2).Multiple endocrine neoplasia type 2a (MEN 2a), named also as Sipple syndrome, is characterized by the presence of MTC, pheochromocytoma (in about 50% of patients) and parathyroid adenomas or hyperplasia (15-25% of patients). The diagnosis of MEN 2b syndrome is more unequivocal because of its characteristic clinical status and a typical RET mutation. In this syndrome, MTC develops the most quickly, even in young children. A characteristic symptom is the presence of mucosal neuromas and neurogangliomatosis of the distal intestinal tract. Pheochromocytoma develops later, in about half of patients. Parathyroid adenomas are absent.In this chapter the actual state of knowledge concerning the molecular basis of MTC hereditary form, its relation to localization of RET mutations and clinical disease status are presented. Diagnostic and therapeutic procedures in hereditary MTC and the way of proceeding in a presence of germline RET mutation are discussed Short guidelines about management in hereditary MTC are also given.
Authors and Affiliations
Barbara Jarząb, Jolanta Krajewska, Jan Włoch, Zbigniew Wygoda
Keywords
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