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Intraosseous Venous Malformation of the Rib With EWSR1-NFATC1 Fusion Mimicking Malignancy: A Pediatric Case Report
Bridgette McCarty1, Heather Gochnauer2, Xochitl Longstaff2
1University of California.
Background:
Intraosseous venous malformations are rare, benign vascular bone lesions that may mimic malignant sarcomas on imaging.
Observations:
A 14-year-old male presented with fever and cough. Imaging revealed an incidental ossified rib mass with aggressive features. CT-guided biopsy was nondiagnostic, whereas open biopsy demonstrated a vascular lesion positive for CD31, FLI-1, and ERG. Molecular testing identified an EWSR1-NFATC1 fusion. Gross total resection was achieved, followed by prolonged disease-free survival, and the patient resumed full athletic activity 7 months after surgery.
Conclusions:
This case highlights the value of open biopsy and molecular testing to prevent misdiagnosis and overtreatment of intraosseous venous malformations.
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