Thyroid C cells and their pathology: Part 1: normal C cells, - C cell hyperplasia, - precursor of familial medullary thyroid carcinoma

Abstract

The C cells (parafollicular) of the human thyroid gland are predominantly located within the thyroid follicles, are of neuroendocrine origin and produce and secrete the peptide hormone calcitonin. Calcitonin is clinically utilized as a screening marker to detect occult medullary thyroid carcinoma (MTC) as well as in the follow-up of patients with MTC. An increase in the number of C cells is designated as C cell hyperplasia (CCH). Neoplastic CCH is caused by an autosomal dominant inherited mutation of the RET protooncogene, which develops into invasive familial MTC in the setting of multiple endocrine neoplasia (MEN) type 2 depending on the location of the mutation in the RET gene with a high variation in latency. According to the current state of knowledge CCH without a germline mutation in the RET protooncogene, designated as non-MEN2-associated CCH, seems to be unrelated to the development of sporadic MTC.