Molecular genetics of parathyroid tumors

Abstract

Parathyroid tumors affect less than 0.5% of the general population. They commonly manifest as benign parathyroid adenoma (PA) in about 98% of cases, as atypical parathyroid adenoma (aPA) in 1.2%–1.3% of cases, or as malignant parathyroid carcinoma (PC) in less than 1% of patients. Over 90% of cases present as a sporadic disease, caused by somatic mutations occurred in a single parathyroid chief cell, leading to the development of a single-gland neoplasm. In less than 10% of cases, parathyroid tumors occur as a part of congenital non-syndromic or syndromic endocrine disorders, caused by a germline autosomal dominant mutation inherited by one parent, independently by sex, or, in extremely rare cases, by a de novo mutation occurred during the embryo development.