Neonatal osteoblastic tumor with a novel PTBP1::FOSB fusion

Genes Chromosomes Cancer. 2023 Oct;62(10):611-616. doi: 10.1002/gcc.23149. Epub 2023 May 3.

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.

Keywords: FOSB; neonatal; osteoblastic; osteoblastoma.

Publication types

  • Case Reports

MeSH terms

  • Bone Neoplasms* / pathology
  • Diagnosis, Differential
  • Heterogeneous-Nuclear Ribonucleoproteins
  • Humans
  • Infant, Newborn
  • Osteoblastoma* / diagnosis
  • Osteoblastoma* / pathology
  • Osteoma, Osteoid* / diagnosis
  • Osteoma, Osteoid* / pathology
  • Polypyrimidine Tract-Binding Protein
  • Proto-Oncogene Proteins c-fos / genetics

Substances

  • FOSB protein, human
  • Proto-Oncogene Proteins c-fos
  • PTBP1 protein, human
  • Heterogeneous-Nuclear Ribonucleoproteins
  • Polypyrimidine Tract-Binding Protein