Elucidating distinct roles for NF1 in melanomagenesis

Cancer Discov. 2013 Mar;3(3):338-49. doi: 10.1158/2159-8290.CD-12-0313. Epub 2012 Nov 21.

Abstract

BRAF mutations play a well-established role in melanomagenesis; however, without additional genetic alterations, tumor development is restricted by oncogene-induced senescence (OIS). Here, we show that mutations in the NF1 tumor suppressor gene cooperate with BRAF mutations in melanomagenesis by preventing OIS. In a genetically engineered mouse model, Nf1 mutations suppress Braf-induced senescence, promote melanocyte hyperproliferation, and enhance melanoma development. Nf1 mutations function by deregulating both phosphoinositide 3-kinase and extracellular signal-regulated kinase pathways. As such, Nf1/Braf-mutant tumors are resistant to BRAF inhibitors but are sensitive to combined inhibition of mitogen-activated protein/extracellular signal-regulated kinase kinase and mTOR. Importantly, NF1 is mutated or suppressed in human melanomas that harbor concurrent BRAF mutations, NF1 ablation decreases the sensitivity of melanoma cell lines to BRAF inhibitors, and NF1 is lost in tumors from patients following treatment with these agents. Collectively, these studies provide mechanistic insight into how NF1 cooperates with BRAF mutations in melanoma and show that NF1/neurofibromin inactivation may have an impact on responses to targeted therapies.

Publication types

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

MeSH terms

  • Animals
  • Carcinogenesis / genetics*
  • Cell Growth Processes / genetics
  • Cell Line, Tumor
  • Disease Models, Animal
  • Drug Resistance, Neoplasm
  • Genes, Neurofibromatosis 1*
  • Genotype
  • Humans
  • Indoles / pharmacology
  • Melanocytes / pathology
  • Melanocytes / physiology
  • Melanoma / drug therapy
  • Melanoma / genetics*
  • Melanoma / metabolism
  • Melanoma / pathology
  • Mice
  • Mice, Nude
  • Mutation*
  • Neurofibromin 1 / deficiency
  • Neurofibromin 1 / genetics
  • Proto-Oncogene Proteins B-raf / antagonists & inhibitors
  • Proto-Oncogene Proteins B-raf / genetics*
  • Proto-Oncogene Proteins B-raf / metabolism
  • Signal Transduction
  • Sulfonamides / pharmacology
  • Vemurafenib
  • Xenograft Model Antitumor Assays

Substances

  • Indoles
  • Neurofibromin 1
  • Sulfonamides
  • Vemurafenib
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf