Recurrent Alterations in the MAPK pathway in Sporadic Pyogenic Granuloma of Childhood

Katharina Strobel, Katja Maurus, Henning Hamm

  • 1Department of Dermatology, University Hospital Würzburg, Josef-Schneider-Str. 2, DE-97080 Würzburg, Germany. wobser_m@ukw.de.

Insights

Pyogenic granulomas in children may be driven by specific gene mutations. Identifying these genetic alterations in the mitogen-activated protein kinase pathway could lead to targeted treatments.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Pyogenic granuloma is a common vascular tumor.
  • Previously thought to be inflammatory, recent research suggests a role for mitogen-activated protein kinase (MAPK) pathway activation.

Purpose of the Study:

  • To investigate the molecular profile of childhood pyogenic granuloma.
  • To identify potential genetic aberrations in oncogenic pathways.

Main Methods:

  • Retrospective analysis of 15 pediatric pyogenic granuloma cases.
  • Targeted next-generation sequencing using the Oncomine Focus Assay.

Main Results:

  • Activating mutations were identified in 27% (4/15) of cases.
  • Mutations included HRAS, BRAF, and a novel MAP2K1 hotspot mutation.
  • All identified mutations are involved in MAPK signaling.

Conclusions:

  • Constitutive MAPK signaling is a key driver in pyogenic granuloma pathogenesis.
  • Novel oncogenic mutations in MAPK pathway genes have been identified.
  • These findings may inform targeted treatment strategies for pyogenic granuloma.

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