ADVANCES IN PARATHYROID ADENOMA GENETICS: A PILOT STUDY IN GREEK POPULATION.

AUTHORS:
A. Chorti (Thessaloniki, Greece) , C. Achilla (Thessaloniki, Greece) , K. Boulogeorgou (Thessaloniki, Greece) , D. Tsalkatidou (Thessaloniki, Greece) , D. Krokou (Thessaloniki, Greece) , A. Chatzikyriakidou (Thessaloniki, Greece) , A. Cheva (Thessaloniki, Greece) , E. Poulios (Athens, Greece) , T. Papavramidis (Thessaloniki, Greece)
Background:
Parathyroid gland plays a significant role in regulatory homeostasis of calcium, magnesium and phosphorus, as they secrete parathormone. Parathyroid adenoma constitutes the most common cause of primary hyperparathyroidism, overproducing parathormone and oversecreting calcium. The aim of the present study is to evaluate the potential role of ANXA2, MED12, CALM1, MAPK1 and VDR genes in pathogenesis of parathyroid adenoma.
Methods:
Sixty patients with parathyroid adenoma and 60 healthy individuals without history of carcinoma or autoimmune disease took part in our study. Genotyping was performed with polymerase chain reaction (PCR) and restriction fragment length polymorphism assay (RFLP). For the immunohistochemical study, tissue samples after parathyroidectomy were collected and prepared for the antigen retrieval, the antigen-antibody interaction and staining evaluation.
Results:
VDR gene TaqI polymorphism was found to have statistically significant distribution among these two groups. ANXA2, MAPK1, MED12 and VDR proteins were stained positive in parathyroid adenoma tissue, ranging from mild to intense intensity.
Conclusions:
The genetics of parathyroid adenoma is a novel research field that gain ground nowadays. The awareness of the genetic pathways involved in parathyroid adenoma pathogenesis may give new opportunities to the diagnosis and treatment of this disease. VDR, ANXA2, MED12 and MAPK1 proteins could be applied as biomarkers during the diagnosis of parathyroid adenoma, in the differential diagnosis of parathyroid tumors (hyperplasia or carcinoma), while they can be correlated to the clinical symptoms.