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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
PubMed

Insights

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.
Keywords:
Endocrine pathologyMolecular analysisParathyroidParathyroid carcinomaParathyroid neoplasiaRare cancerWhole chromosome loss

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