• What is NF1?
  • NF1 in Myelodysplastic Syndromes
  • Clinical Trials


Neurofibromin 1 (NF1) is a gene that codes for a tumor suppressor protein (Genetics Home Reference 2014). NF1 suppresses the function of the Ras protein, which promotes cell growth and differentiation (Genetics Home Reference 2014; Yap et al. 2014). In cancer, the tumor suppression function of the gene is impaired, leading to conditions favorable for uncontrolled cell growth. NF1 mutations have been observed in multiple cancer types, including myelodysplastic syndromes.

In addition, NF1 syndrome is a germline condition resulting in predisposition to several types of cancer, in addition to other effects (Yap et al. 2014). Cancer types associated with NF1 syndrome include glioma, melanoma, lung cancer, ovarian cancer, breast cancer, colorectal cancer, hematologic malignancies, and other cancers (Yap et al. 2014).​

Related Pathways

Contributors: Stephen A. Strickland, M.D., MSCI, Annette S. Kim, M.D., Ph.D.

Suggested Citation: Strickland, S., A. Kim. 2015. NF1. My Cancer Genome https://www.padiracinnovation.org/content/disease/myelodysplastic-syndromes/nf1/?tab=0 (Updated December 7).

Last Updated: December 7, 2015

NF1 in Myelodysplastic Syndromes

NF1 mutations occur in less than 1% of MDS (COSMIC). NF1 mutations are observed in various types of MDS (Cazzola, Della Porta, and Malcovati 2013). Since NF1 is a tumor suppressor gene, mutations to NF1 can result in loss of normal downregulation of the Ras activation of the MAPK and PI3K–Akt–mTOR proliferation and differentiation pathways, among other tumor suppression activities (Yap et al. 2014).

The role of NF1 mutations in MDS treatment decisions is not yet clear.

Contributors: Stephen A. Strickland, M.D., MSCI, Annette S. Kim, M.D., Ph.D.

Suggested Citation: Strickland, S., A. Kim. 2014. NF1 in Myelodysplastic Syndromes. My Cancer Genome https://www.padiracinnovation.org/content/disease/myelodysplastic-syndromes/nf1/ (Updated September 23).

Last Updated: September 23, 2014

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