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Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
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Genomic Profiling of the Craniofacial Ossifying Fibroma by Next-Generation Sequencing
Dorukhan H Bahceci1, James P Grenert1, Richard C K Jordan1
1Department of Pathology, University of California at San Francisco, San Francisco, CA, 94143, USA.
Head and Neck Pathology
|March 17, 2023
Summary
Ossifying fibroma (OF) of the craniofacial skeleton shows genetic heterogeneity. Frequent alterations in FOS, FOSB, and TBX3 genes suggest a role in juvenile trabecular OF pathogenesis.
Area of Science:
- Genomic analysis of craniofacial bone tumors.
- Molecular pathology of fibro-osseous lesions.
Background:
- Ossifying fibroma (OF) is a craniofacial fibro-osseous lesion with an unknown molecular landscape.
- Known genetic abnormalities include HRPT2 mutations and SATB2 translocations, but MDM2 amplification and copy number alterations (CNA) reports are conflicting.
Purpose of the Study:
- To comprehensively characterize the molecular profile of ossifying fibroma.
- To investigate the role of gene amplifications, mutations, and CNAs in OF pathogenesis.
Main Methods:
- Next-generation sequencing (NGS) of 529 cancer genes and select introns was performed on 17 OF tumor specimens.
- Clinical, radiographic, and pathological features were reviewed.
Main Results:
- Large-scale CNAs were present in 6 of 17 cases.
- Focal amplifications of FOS (23%), COL1A1 (23%), and TBX3 (29%) were identified.
- Pathogenic CDC73 mutations were found in 17% of cases; no MDM2 amplification was detected.
Conclusions:
- Ossifying fibroma exhibits a heterogeneous genetic profile with frequent alterations in FOS, FOSB, and TBX3, particularly in juvenile trabecular OF.
- Dysregulation of the AP-1 pathway may contribute to the pathogenesis of juvenile trabecular OF.
- The rarity of MDM2 amplification in OF supports its use as a differential marker against low-grade gnathic osteosarcoma.
