Genetic and Epigenetic Alterations in Parathyroid Neoplasms

The etiology of parathyroid carcinoma (PC) is largely unknown. Associations have been made with several inherited syndromes and with specific genetic lesions. The management of PC is challenging for clinicians. The complexity of molecular phenotypes increases with tumor aggressiveness. Lack of parafibromin on immunohistochemistry staining and HRPT۲ mutation present capable consequences in differentiating carcinoma from adenoma. Lack of parafibromin expression, the gene product of HRPT۲ 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 that are the reason for parathyroid tumorigenesis. We suggest that adjuvant genetic and epigenetic target therapy should be considered in treating PC patients. 

Keywords:

Carcinoma , Mutation , Parafibromin , Parathyroid gland