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Updated: Jul 31, 2025

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
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.
Abstract:
Congenital/neonatal bone neoplasms are extremely rare. We present the case of a patient with a neonatal bone tumor of the fibula that had osteoblastic differentiation and a novel PTBP1::FOSB fusion. FOSB fusions are described in several different tumor types, including osteoid osteoma and osteoblastoma; however, these tumors typically present in the second or third decade of life, with case reports as young as 4 months of age. Our case expands the spectrum of congenital/neonatal bone lesions. The initial radiologic, histologic, and molecular findings supported the decision for close clinical follow-up rather than more aggressive intervention. Since the time of diagnosis, this tumor has undergone radiologic regression without treatment.
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