Schwannoma development is mediated by Hippo pathway dysregulation and modified by RAS/MAPK signaling

JCI Insight. 2020 Oct 15;5(20):e141514. doi: 10.1172/jci.insight.141514.

Abstract

Schwannomas are tumors of the Schwann cells that cause chronic pain, numbness, and potentially life-threatening impairment of vital organs. Despite the identification of causative genes, including NF2 (Merlin), INI1/SMARCB1, and LZTR1, the exact molecular mechanism of schwannoma development is still poorly understood. Several studies have identified Merlin as a key regulator of the Hippo, MAPK, and PI3K signaling pathways; however, definitive evidence demonstrating the importance of these pathways in schwannoma pathogenesis is absent. Here, we provide direct genetic evidence that dysregulation of the Hippo pathway in the Schwann cell lineage causes development of multiple schwannomas in mice. We found that canonical Hippo signaling through the effectors YAP/TAZ is required for schwannomagenesis and that MAPK signaling modifies schwannoma formation. Furthermore, cotargeting YAP/TAZ transcriptional activity and MAPK signaling demonstrated a synergistic therapeutic effect on schwannomas. Our new model provides a tractable platform to dissect the molecular mechanisms underpinning schwannoma formation and the role of combinatorial targeted therapy in schwannoma treatment.

Keywords: Genetics; Oncology; Signal transduction; Tumor suppressors.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Animals
  • Gene Expression Regulation, Neoplastic / genetics
  • Hepatocyte Growth Factor / genetics
  • Humans
  • Loss of Heterozygosity / genetics*
  • Mice
  • Mitogen-Activated Protein Kinase Kinases / genetics
  • Neurilemmoma / genetics*
  • Neurilemmoma / pathology
  • Neurofibromin 2 / genetics*
  • Protein Serine-Threonine Kinases / genetics
  • Proto-Oncogene Proteins / genetics
  • SMARCB1 Protein / genetics
  • Signal Transduction / genetics
  • Transcription Factors / genetics
  • YAP-Signaling Proteins
  • ras Proteins / genetics

Substances

  • Adaptor Proteins, Signal Transducing
  • LZTR1 protein, human
  • Neurofibromin 2
  • Nf2 protein, mouse
  • Proto-Oncogene Proteins
  • SMARCB1 Protein
  • Transcription Factors
  • YAP-Signaling Proteins
  • Yap1 protein, mouse
  • macrophage stimulating protein
  • Hepatocyte Growth Factor
  • Lats1 protein, mouse
  • Protein Serine-Threonine Kinases
  • Mitogen-Activated Protein Kinase Kinases
  • ras Proteins