Runx1 contributes to neurofibromatosis type 1 neurofibroma formation

Oncogene. 2016 Mar 17;35(11):1468-74. doi: 10.1038/onc.2015.207. Epub 2015 Jun 15.

Abstract

Neurofibromatosis type 1 (NF1) patients are predisposed to neurofibromas but the driver(s) that contribute to neurofibroma formation are not fully understood. By cross comparison of microarray gene lists on human neurofibroma-initiating cells and developed neurofibroma Schwann cells (SCs) we identified RUNX1 overexpression in human neurofibroma initiation cells, suggesting RUNX1 might relate to neurofibroma formation. Immunostaining confirmed RUNX1 protein overexpression in human plexiform neurofibromas. Runx1 overexpression was confirmed in mouse Schwann cell progenitors (SCPs) and mouse neurofibromas at the messenger RNA and protein levels. Genetic inhibition of Runx1 expression by small hairpin RNA or pharmacological inhibition of Runx1 function by a Runx1/Cbfβ interaction inhibitor, Ro5-3335, decreased mouse neurofibroma sphere number in vitro. Targeted genetic deletion of Runx1 in SCs and SCPs delayed mouse neurofibroma formation in vivo. Mechanistically, loss of Nf1 increased embryonic day 12.5 Runx1(+)/Blbp(+) progenitors that enable tumor formation. These results suggest that Runx1 has an important role in Nf1 neurofibroma initiation, and inhibition of RUNX1 function might provide a novel potential therapeutic treatment strategy for neurofibroma patients.

Publication types

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

MeSH terms

  • Animals
  • CCAAT-Binding Factor / antagonists & inhibitors
  • Carrier Proteins / metabolism
  • Cell Line, Tumor
  • Cell Transformation, Neoplastic / pathology*
  • Core Binding Factor Alpha 2 Subunit / biosynthesis
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • Core Binding Factor Alpha 2 Subunit / metabolism
  • Fatty Acid-Binding Protein 7
  • Humans
  • Mice
  • Neurofibroma / pathology*
  • Neurofibroma, Plexiform / pathology
  • Neurofibromatosis 1 / pathology*
  • Neurofibromin 1 / genetics*
  • RNA Interference
  • RNA, Small Interfering / genetics
  • Schwann Cells / cytology
  • Stem Cells / cytology
  • Tumor Suppressor Proteins / metabolism

Substances

  • CCAAT-Binding Factor
  • Carrier Proteins
  • Core Binding Factor Alpha 2 Subunit
  • FABP7 protein, human
  • Fatty Acid-Binding Protein 7
  • Neurofibromin 1
  • RNA, Small Interfering
  • Runx1 protein, mouse
  • Tumor Suppressor Proteins