Abstract
The human thyroid gland contains less than 0.01-0.1% calcitonin producing and secreting C cells, which in men are almost exclusively situated in an intrafollicular location; the vast majority of C cells are embryologically derived of remnants of the ultimobranchial body and ultimately of the neural crest, a small subset, however, is presumed to originate from endodermal stem cells. Thyroid tumours with C cell differentiation have been named medullary thyroid carcinoma (MTC); calcitonin is also produced and secreted by MTC which makes this peptide hormone a very useful serum marker both for early detection and clinical follow-up of patients with MTC. About 70-80% of MTC are sporadic tumours, whereas 20-30% are familial MTC which are autosomal-dominant inherited and caused by germline mutations of the RET proto-oncogene located on chromosome 10. This article summarizes the histological, immunhistochemical and molecular genetic features of C cells, C-cell hyperplasia (CCH) and MTC, emphasizing the role of diagnostic pathology.
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