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Genome near-haploidization in CDC73-wildtype parathyroid tumors
Maaia Margo Jentus1, Filomena Cetani2, Marieke Snel3
1Department of Pathology, Leiden University Medical Center, Albinusdreef 2, Leiden, 2333, ZA, The Netherlands. m.jentus@lumc.nl.
Scientific Reports
|June 13, 2026
Summary
Chromosomal alterations, including genome near-haploidization, are found in some CDC73-wildtype parathyroid tumors, particularly atypical parathyroid tumors and parathyroid carcinoma. Oncocytic parathyroid adenomas generally show stable genomes.
Area of Science:
- Endocrinology
- Oncology
- Genetics
Background:
- Parathyroid carcinoma (PC) is typically associated with CDC73 mutations.
- Rare CDC73-wildtype PCs exhibit massive chromosomal losses and genome near-haploidization.
- These genomic features are also observed in other rare tumors, like oncocytic thyroid carcinoma.
Purpose of the Study:
- To investigate chromosomal alterations in CDC73-wildtype parathyroid adenomas (PAs), atypical parathyroid tumors (APTs), and PC.
- To determine if genome near-haploidization occurs in these parathyroid neoplasms.
Main Methods:
- Histopathological diagnosis using the 2022 WHO classification.
- Genome-wide SNP array analysis for copy number variations (CNVs), imbalances, and loss of heterozygosity (LOH).
- Somatic mutation analysis for CDC73-wildtype confirmation in APTs and PC.
Main Results:
- Oncocytic PAs generally had stable genomes with minimal chromosomal alterations.
- Two of three APTs and the analyzed PC showed extensive chromosomal losses and genome near-haploidization.
- Patients with chromosomally altered PAs had significantly higher preoperative serum calcium levels.
Conclusions:
- Extensive chromosomal losses and genome near-haploidization are features of some CDC73-wildtype atypical parathyroid tumors and parathyroid carcinoma.
- These findings broaden the understanding of genomic alterations in parathyroid tumors lacking CDC73 mutations.
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