Pilot Study of Plasma miRNA Signature Panel for Differentiating Single vs Multiglandular Parathyroid Disease

Area of Science:

• Endocrinology
• Molecular Biology
• Surgical Diagnostics

Background:

• Differentiating single parathyroid adenoma (PTA) from multiglandular disease (MGD) preoperatively is crucial for surgical decision-making in sporadic primary hyperparathyroidism (sPHPT).
• Accurate preoperative diagnosis of sPHPT, especially in complex cases, can optimize surgical planning and patient outcomes.

Purpose of the Study:

• To identify specific microRNA (miRNA) signatures in tissue for MGD, single-PTA, and double-PTA.
• To discover cell-free miRNA (cfmiRNA) biomarkers in plasma for single-PTA diagnosis.
• To correlate tissue and plasma miRNA profiles for enhanced diagnostic accuracy.

Main Methods:

• Analysis of 2083 miRNAs from tissue and plasma samples of 47 sPHPT patients (single-PTA, double-PTA, MGD) and 29 healthy donors.
• Utilized HTG EdgeSeq miR whole-transcriptome assay and DESeq2 for differential expression analysis.
• Employed Random Forest classifiers and receiver operating characteristic curves to identify diagnostic miRNA signatures.

Main Results:

• Distinct miRNA signatures differentiated normal parathyroid tissue from MGD and PTA.
• A 27-miRNA signature was identified in single-PTA tissue samples.
• A 9-cfmiRNA signature in plasma showed significant differential expression in single-PTA patients compared to healthy donors, with 76% AUC.

Conclusions:

• A 9-cfmiRNA signature was identified in plasma, consistent with tissue findings in single-PTA.
• This cfmiRNA signature holds potential for the preoperative diagnosis of sPHPT caused by a single PTA.
• The findings suggest a less invasive diagnostic approach, potentially reducing the need for extensive parathyroid exploration.