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

Authors

  • Katharina Strobel
  • Katja Maurus
  • Henning Hamm
  • Sabine Roth
  • Matthias Goebeler
  • Andreas Rosenwald
  • Marion Wobser Department of Dermatology, University Hospital Würzburg, Josef-Schneider-Str. 2, DE-97080 Würzburg, Germany

DOI:

https://doi.org/10.2340/actadv.v102.1119

Keywords:

pyogenic granuloma, targeted sequencing, MAPK pathway

Abstract

Pyogenic granuloma is one of the most common vascular tumours. The cause of pyogenic granuloma was previously thought to be an inflammatory reaction with consecutive stimulation of endothelial cell proliferation. However, recent studies suggest that pyogenic granuloma may be driven by constitutive activation of the mitogen-activated protein kinase pathway. The aim of this study was to investigate the molecular profile of sporadic pyogenic granuloma of childhood, using a systematic approach scrutinizing potential aberrations within different oncogenic pathways. Within a retrospective setting pyogenic granuloma of 15 patients was analysed by targeted next generation sequencing using the Oncomine Focus Assay, which includes genes of key tumorigenic signalling pathways. Activating mutations were found in 4 out of 15 cases (27%). Two HRAS hotspot mutations (p.Gly13Arg, p.Ala59Thr), 1 BRAF (p.Val600Glu) mutation and a novel, previously not reported, MAP2K1 hotspot mutation (p.Glu203Lys) were identified. It is notable that all of these genes are involved in constitutive mitogen- activated protein kinase signalling. This study increases the range of underlying genetic alterations in pyogenic granuloma by identifying novel oncogenic mutations in crucial mitogen-activated protein kinase pathway genes. The results provide supporting evidence that activated mitogen-activated protein kinase signalling is a key driver in the pathogenesis of pyogenic granuloma, which might be exploited by targeted treatment approaches for selected cases.

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Published

2022-05-19

How to Cite

Strobel, K., Maurus, K., Hamm, H., Roth, S., Goebeler, M., Rosenwald, A., & Wobser, M. (2022). Recurrent Alterations in the MAPK pathway in Sporadic Pyogenic Granuloma of Childhood. Acta Dermato-Venereologica, 102, adv00715. https://doi.org/10.2340/actadv.v102.1119

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