TGFβ-dependent signaling drives tumor growth and aberrant extracellular matrix dynamics in NF1-associated plexiform neurofibroma

Sci Adv. 2025 Jun 20;11(25):eadu0772. doi: 10.1126/sciadv.adu0772. Epub 2025 Jun 20.

Abstract

Plexiform neurofibromas (PNFs) are benign tumors of the peripheral nervous system that represent a major source of morbidity in neurofibromatosis type 1 (NF1). A substantial proportion of patients do not respond to current therapies or experience intolerable side effects. Transcriptomic characterization of murine and human PNF at bulk and single-cell resolution identified transforming growth factor-β (TGFβ) signaling as a key upstream regulator, driving aberrant basement membrane (BM) protein production by neoplastic Schwann cells and Fbs. Conditional TGFβ1 overexpression in Nf1-deficient Schwann cells driven by Hoxb7-Cre promoted PNF growth and malignant transformation in vivo. Conversely, pharmacologic inhibition of the type I TGFβ receptor (TGFβRI) reduced PNF tumor burden in Nf1 mutant mice. Proteomic characterization of the extracellular matrix (ECM) showed reduced BM proteins upon TGFβRI inhibition. These findings implicate TGFβ as a potential therapeutic target in PNF and provide insights into the role of TGFβ signaling in orchestrating ECM dynamics in the PNF microenvironment.

MeSH terms

  • Animals
  • Cell Proliferation
  • Disease Models, Animal
  • Extracellular Matrix* / metabolism
  • Extracellular Matrix* / pathology
  • Humans
  • Mice
  • Neurofibroma, Plexiform* / genetics
  • Neurofibroma, Plexiform* / metabolism
  • Neurofibroma, Plexiform* / pathology
  • Neurofibromatosis 1* / genetics
  • Neurofibromatosis 1* / metabolism
  • Neurofibromatosis 1* / pathology
  • Neurofibromin 1* / genetics
  • Neurofibromin 1* / metabolism
  • Receptor, Transforming Growth Factor-beta Type I / metabolism
  • Schwann Cells / metabolism
  • Schwann Cells / pathology
  • Signal Transduction*
  • Transforming Growth Factor beta* / metabolism
  • Tumor Microenvironment

Substances

  • Neurofibromin 1
  • Transforming Growth Factor beta
  • Receptor, Transforming Growth Factor-beta Type I