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A Pediatric Primary Cardiac Spindle Cell Neoplasm With a Rare PDGFRA::USP8 Gene Fusion: A Case Report
Ariel Gershon1, Anita Nagy2,3, Gino R Somers2,3
1Medical Genetics and Genomics, University of Toronto, Toronto, ON, Canada.
A rare pediatric cardiac spindle cell neoplasm with a PDGFRA::USP8 gene fusion was identified in a 3-year-old boy. The patient is disease-free 11 months after surgical resection of the cardiac mass.
Area of Science:
- Cardiovascular Pathology
- Pediatric Oncology
- Molecular Diagnostics
Background:
- Primary cardiac tumors are rare, especially in pediatric populations.
- Spindle cell neoplasms of the heart present diagnostic challenges.
- Specific gene fusions are increasingly recognized as drivers of rare tumors.
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