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Activating mutations in the MAP-kinase pathway define non-ossifying fibroma of bone

Daniel Baumhoer1, Michal Kovac1, Jan Sperveslage2

  • 1Bone Tumour Reference Centre, Institute of Pathology, University Hospital Basel and University of Basel, Basel, Switzerland.

The Journal of Pathology
|December 15, 2018
PubMed

Insights

Non-ossifying fibroma (NOF) is a common benign bone lesion. Genetic mutations in KRAS, FGFR1, and NF1 were found in most NOF cases, indicating it is a genetically driven neoplasm.

Area of Science:

  • Skeletal pathology
  • Molecular genetics
  • Oncology

Background:

  • Non-ossifying fibroma (NOF) is the most common benign, self-limiting lesion of the growing skeleton.
  • NOF can occasionally lead to pathologic fractures.

Purpose of the Study:

  • To investigate the molecular pathogenesis of non-ossifying fibroma (NOF).
  • To identify genetic mutations driving NOF development.

Main Methods:

  • DNA sequencing was performed on 59 patients with NOF.
  • Hotspot mutations in KRAS, FGFR1, and NF1 were analyzed.

Main Results:

  • Mutations in KRAS, FGFR1, and NF1 were identified in 81.4% of patients (48/59) with NOF.
  • Allele frequencies for these mutations ranged from 0.04 to 0.61.
  • Findings suggest NOF is a genetically driven neoplasm, often involving activated MAP-kinase signaling.

Conclusions:

  • Non-ossifying fibroma (NOF) is a genetically driven neoplasm, primarily caused by mutations activating the MAP-kinase signaling pathway.
  • This study expands the understanding of benign lesions driven by KRAS and MAP-kinase signaling.
Keywords:
FGFR1KRASNF1Non-ossifying fibromabone tumourmassively parallel sequencing

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