Molecular Genetic Aspects of Sporadic Multiglandular Primary Hyperparathyroidism

• Published in: Physiological research Vol. 72; no. S4; pp. S357 - S363
• Main Authors: Včelák, J, Šerková, Z, Zajíčková, K
• Format: Journal Article
• Language: English
• Published: Czech Republic Institute of Physiology 17.12.2023; Institute of Physiology of the Czech Academy of Sciences
• Subjects: Cell cycle; DNA methylation; Endocrine system; Epigenetics; Family medical history; Gene expression; Genes; Genetic testing; Humans; Hyperparathyroidism; Hyperparathyroidism, Primary - diagnosis; Hyperparathyroidism, Primary - genetics; Hyperparathyroidism, Primary - pathology; Kinases; Molecular Biology; Mutation; Parathyroid; Parathyroid Glands - pathology; Parathyroid Hormone - genetics; Parathyroidectomy; Pathogenesis; Patients; Proteins; Retrospective Studies; Review; Tumorigenesis; Tumors
• ISSN: 0862-8408; 1802-9973
• DOI: 10.33549/physiolres.935253

Multiglandular primary hyperparathyroidism (MGD) represents a rare form of primary hyperparathyroidism (PHPT). MGD is associated with hereditary PHPT, but the sporadic MGD is more common and affects a similar patient profile as single gland parathyroid disease (SGD). The distinction between SGD and MGD is of great clinical importance, especially for the strategy of parathyroidectomy. Based on the limited knowledge available, MGD is likely to be a genetically heterogeneous disease resulting from the interaction of germline and somatic DNA mutations together with epigenetic alterations. Furthermore, these events may combine and occur independently in parathyroid tumors within the same individual with MGD. Gene expression profiling has shown that SGD and MGD may represent distinct entities in parathyroid tumorigenesis. We are waiting for studies to analyze exactly which genes are different in SGD and MGD in order to identify potential biomarkers that can distinguish between the two forms of the disease.