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Updated: Jul 28, 2025

Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors
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Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors

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RAS Signaling Gone Awry in the Skin: The Complex Role of RAS in Cutaneous Neurofibroma Pathogenesis, Emerging

Steven D Rhodes1, Frank McCormick2, Ross L Cagan3

  • 1Division of Hematology-Oncology, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, USA; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA; Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, Indiana, USA; Melvin and Bren Simon Comprehensive Cancer Center, Indiana University School of Medicine, Indianapolis, Indiana, USA.

The Journal of Investigative Dermatology
|May 28, 2023
PubMed

Insights

Cutaneous neurofibromas (cNFs), common in neurofibromatosis type 1, lack effective treatments. Understanding RAS signaling in cNF development is key to finding new therapies for these skin tumors.

Area of Science:

  • Oncology
  • Genetics
  • Dermatology

Background:

  • Cutaneous neurofibromas (cNFs) are the most common tumor in neurofibromatosis type 1 (NF1).
  • Hundreds to thousands of cNFs can develop, with no current preventive or therapeutic options.
  • NF1 is a genetic rasopathy impacting RAS signaling pathways.

Purpose of the Study:

  • To review the current understanding of RAS signaling in cNF pathogenesis.
  • To highlight therapeutic development strategies for cNF treatment.
  • To identify knowledge gaps and future research directions for cNF therapies.

Main Methods:

  • Literature review of studies on RAS signaling in cNF.
  • Analysis of research on therapeutic targets and drug development for cNFs.
  • Synthesis of current knowledge on cNF biology and NF1 genetics.

Main Results:

  • RAS signaling pathways are critically involved in cNF initiation, growth, and maintenance.
  • Dysregulation of specific RAS effectors contributes to cNF development.
  • Several therapeutic strategies targeting RAS pathway components are under investigation.

Conclusions:

  • A deeper understanding of RAS signaling in cNF pathogenesis is essential for developing effective treatments.
  • Targeting RAS effector pathways holds promise for future cNF therapies.
  • Further research is needed to translate preclinical findings into clinical interventions for cNFs.

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