Genetic and Epigenetic Alterations in Parathyroid Neoplasms

The exact etiology of parathyroid carcinomas (PC) is still unknown. Their associations have with several inherited syndromes or specific genetic lesions have been established. The management of PC is challenging for clinicians. The complexity of molecular phenotypes increases with tumor aggressiveness. Lack of parafibromin on immunohistochemistry staining and HRPT2 mutation would be helpful in differentiation of carcinoma from adenoma. Lack of parafibromin expression, the gene product of HRPT2 is now used as a diagnostic, prognostic, and predictive marker for parathyroid carcinoma. The epigenetic alteration, for example, DNA methylation and modifications in the chromatin structure, are known as significant events involved in the parathyroid tumorigenesis. We suggest that adjuvant genetic and epigenetic target therapy should be considered in treatment of the patients with PC.