Endocrine Abstracts

Introduction: Sporadic primary hyperparathyroidism (sporadic PHPT) is a common endocrine disorder, usually caused by a single parathyroid adenoma. However, up to 15% of patients present with multiple gland disease (MGD), which cannot be always diagnosed preoperatively, raising serious management problems. No predictive genetic screening tests are currently available to distinguishing adenomas from MGD in sporadic PHPT. MiRNAs are widely established as genetic molecules that have unique features suitable for biomarker use, as they display an exceptional stability against degradation and are easily extracted from various specimens including peripheral blood. The aim of this study was to investigate differential expression of hsa-miR-30e miRNA in patients with adenomas or MGD, as well as the association between the single nucleotide polymorphisms (SNP-ss178077483 and rs7556088) found in hsa-miR-30e and their possible role in sporadic PHPT tumorigenesis.

Methods: 120 patients with sporadic PHPT were genotyped, 77 presenting with a single adenoma and 43 with MGD. 54 healthy adults served as controls. Patients with secondary hyperparathyroidism or patients with genetic syndromes involving PHPT, familiar hereditary disease or history of other malignancies were excluded. Patients with single adenomas were included only if they were followed-up for at least 2 years and confirmed to be disease free. The control group was tested and found to be negative for PHPT. Clinical data was collected from both Institutions’ databases. Polymorphisms were identified using allele specific polymerase chain reaction technique. Hsa-miR-30e expression in samples was detected by real-time quantitative reverse transcriptase PCR.

Results: When comparing patients with adenomas and MGD, there was no significant difference in clinical and biochemical parameters. There was also no difference between weight and size of the resected glands in these two groups. Hsa-miR-30e expression was found to be significantly higher in patients with MGD compared to patients with single adenomas (P=0.0019). The genotype frequencies for ss178077483 and rs7556088 were found to differ significantly between patients with sporadic PHPT and healthy controls, but not between patients with adenomas and MGD. Furthermore, no significant differences were found in hsa-miR-30e expression levels regarding to specific genotype carriers.

Conclusions: Although SNPs do not seem to serve as possible genetic biomarkers for the preoperative differential diagnosis of MGD, hsa-miR-30e expression could potentially serve as a marker for this purpose.