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Epidemiology and Clinical Presentation of Medullary Thyroid Carcinoma

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Book cover Medullary Thyroid Carcinoma

Part of the book series: Recent Results in Cancer Research ((RECENTCANCER,volume 204))

Abstract

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor originating from the thyroid C cells producing mainly calcitonin (CTN) used as tumor marker. MTC occurs either sporadic (75 %) or in a hereditary form (multiple endocrine neoplasia type 2, MEN2), due to germline mutations in the RET proto-oncogene. The discovery of an MTC in a patient has several diagnostic implications involving a specific strategy: preoperative evaluation of the tumor marker CTN and the extent of the disease, classification of MTC as sporadic or hereditary by DNA testing, and screening for associated endocrinopathies in hereditary MTC. Elevated CTN is a highly sensitive and specific tumor marker for diagnosis and follow-up of MTC. CTN is directly related to the tumor mass. In patients with nodular thyroid disease, diagnosis of MTC could be made by CTN determination as an indicator of tumor burden in conjunction with fine-needle aspiration. Patients with confirmed sporadic or hereditary MTC should have a total thyroidectomy and depending on the preoperative CTN value and the extent of disease additional dissection of the lymph nodes in the central and lateral neck compartment. In MEN 2 patients diagnosed by screening, the time of prophylactic thyroidectomy depends on RET mutation and CTN level.

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Abbreviations

MTC:

Medullary thyroid carcinoma

MEN:

Multiple endocrine neoplasia

FMTC:

Familial medullary thyroid carcinoma

CTN:

Calcitonin

RET gene:

REarranged during Transfection gene

CEA:

Carcinoembryonic antigen

CCH:

C-cell hyperplasia

ICMA:

Immunochemiluminometric two-site assays

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    Friedhelm Raue & Karin Frank-Raue

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Raue, F., Frank-Raue, K. (2015). Epidemiology and Clinical Presentation of Medullary Thyroid Carcinoma. In: Raue, F. (eds) Medullary Thyroid Carcinoma. Recent Results in Cancer Research, vol 204. Springer, Cham. https://doi.org/10.1007/978-3-319-22542-5_3

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