Molecular Genetic Aspects of Sporadic Multiglandular Primary Hyperparathyroidism

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...

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Bibliographic Details
Published in:Physiological research 2023-12, Vol.72 (Suppl 4), p.S357-S363
Main Authors: Včelák, J, Šerková, Z, Zajíčková, K
Format: Article
Language:English
Subjects:
Cell cycle
DNA methylation
Endocrine system
Epigenetics
Family medical history
Gene expression
Genes
Genetic testing
Hyperparathyroidism
Kinases
Mutation
Parathyroid
Parathyroidectomy
Pathogenesis
Patients
Proteins
Review
Tumorigenesis
Tumors
Citations: Items that this one cites
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Summary: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.
ISSN:0862-8408
1802-9973
DOI:10.33549/physiolres.935253