Epigenetic Alterations in Parathyroid Cancers.
Parathyroid cancers (PCas) are rare malignancies representing approximately 0.005% of all cancers. PCas are a rare cause of primary hyperparathyroidism, which is the third most common endocrine disease, mainly related to parathyroid benign tumors. About 90% of PCas are hormonally active hypersecreting parathormone (PTH); consequently patients present with complications of severe hypercalcemia. Pre-operative diagnosis is often difficult due to clinical features shared with benign parathyroid lesions. Surgery provides the current best chance of cure, though persistent or recurrent disease occurs in about 50% of patients with PCas. Somatic inactivating mutations of CDC73/HRPT2 gene, encoding parafibromin, are the most frequent genetic anomalies occurring in PCas. Recently, the aberrant DNA methylation signature and microRNA expression profile have been identified in PCas, providing evidence that parathyroid malignancies are distinct entities from parathyroid benign lesions, showing an epigenetic signature resembling some embryonic aspects. The present paper reviews data about epigenetic alterations in PCas, up to now limited to DNA methylation, chromatin regulators and microRNA profile.
Laboratory of Experimental Endocrinology, IRCCS Istituto Ortopedico Galeazzi, 20161 Milan, Italy. chiara.verdelli@libero.it.
Chiara
C
Verdelli
Endocrinology Unit, Department of Biomedical Sciences for Health, University of Milan, IRCCS Istituto Ortopedico Galeazzi, 20097 Milan, Italy. sabrina.corbetta@unimi.it.
Sabrina
S
Corbetta
D019175:DNA Methylation; D044127:Epigenesis, Genetic; D057890:Epigenomics; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease; D006801:Humans; D035683:MicroRNAs / Q000235:genetics; D010282:Parathyroid Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D015398:Signal Transduction
D035683:MicroRNAs
DNA methylation; histones; methyltransferases; microRNAs; parathormone (PTH); parathyroid cancers