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Updated: Jul 31, 2025

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
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Neonatal osteoblastic tumor with a novel PTBP1::FOSB fusion
Patrick R Blackburn1, David P Douglass2, Raghu H Ramakrishnaiah3
1Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
A rare neonatal fibula bone tumor with a novel PTBP1::FOSB fusion showed osteoblastic differentiation. This congenital bone lesion unexpectedly regressed radiologically without intervention.
Area of Science:
- Oncology
- Pediatric Oncology
- Skeletal Dysplasias
Background:
- Congenital/neonatal bone neoplasms are exceptionally rare, presenting diagnostic and therapeutic challenges.
- Osteoblastic bone tumors, such as osteoid osteoma and osteoblastoma, are typically diagnosed in adolescents and adults.
- Novel gene fusions are increasingly identified as drivers in various tumor types, including bone neoplasms.
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