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Parafibromin Abnormalities in Ossifying Fibroma.

Jessica Costa-Guda1,2, Chetanya Pandya3,4, Maya Strahl3

  • 1Center for Molecular Oncology, University of Connecticut School of Medicine, Farmington, CT 06030, USA.

Journal of the Endocrine Society
|June 23, 2021
PubMed
Summary

Loss of parafibromin protein expression, linked to the HRPT2/CDC73 gene, is observed in some ossifying fibromas. This suggests a role for this tumor suppressor in the development of these rare jaw tumors.

Keywords:
CDC73hyperparathyroidism-jaw tumor syndromejaw neoplasmsossifying fibromaparafibromin

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Area of Science:

  • Oncology
  • Genetics
  • Pathology

Background:

  • Ossifying fibromas are rare tumors.
  • Hyperparathyroidism-jaw tumor syndrome (HPT-JT) involves HRPT2/CDC73 gene mutations.
  • CDC73 mutations and parafibromin protein loss are implicated in HPT-JT.

Purpose of the Study:

  • To investigate the role of parafibromin loss in sporadic ossifying fibromas.
  • To determine if parafibromin downregulation is common in non-syndromic ossifying fibroma.

Main Methods:

  • Immunohistochemistry used to assess parafibromin protein expression in 9 ossifying fibromas.
  • CDC73 gene sequencing (Sanger and AmpliSeq) performed on tumor samples.

Main Results:

  • Four out of nine ossifying fibromas exhibited complete loss of nuclear parafibromin.
  • Aberrant cytoplasmic parafibromin expression was noted in one case.
  • CDC73 mutations were identified in two cases with abnormal parafibromin expression.

Conclusions:

  • Loss of parafibromin protein expression may contribute to the pathogenesis of a subset of ossifying fibromas.
  • Provides evidence for the involvement of the CDC73/parafibromin tumor suppressor in sporadic ossifying fibroma development.