• What is RUNX1?
  • RUNX1 in Myelodysplastic Syndromes
  • Clinical Trials

RUNX1

Runt-related transcription factor 1 (RUNX1; also known as AML1) is a gene that codes for the alpha subunit of the core binding factor protein. This protein is thought to take part in regulating expression of multiple genes involved in normal hematopoiesis (Gene 2013; Kurokawa and Hirai 2003). RUNX1 is involved in translocations observed in hematologic malignancies, including AML, ALL, and myelodysplastic syndromes. Its role in cancer is also being investigated in promyelocytic leukemia, as well as in solid tumors such as endometrial, ovarian, and breast cancer. In addition, germline RUNX1 mutations, deletions, and translocations have been associated with conditions that predispose individuals to myeloid malignancies (Cazzola, Della Porta, and Malcovati 2013; Michaud et al. 2002; NCCN 2014; Song et al. 1999).​

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

Suggested Citation: Strickland, S., A. Kim. 2014. RUNX1. My Cancer Genome https://www.padiracinnovation.org/content/disease/myelodysplastic-syndromes/runx1/?tab=0 (Updated September 23).

Last Updated: September 23, 2014

RUNX1 in Myelodysplastic Syndromes

RUNX1 mutations occur in 8.9% of MDS (COSMIC). RUNX1 mutations are most often observed in refractory cytopenia with multilineage dysplasia (RCMD) and refractory anemia with excess blasts (RAEB), subtypes of high risk (Cazzola, Della Porta, and Malcovati 2013). RUNX1 mutations result in deregulation of transcription necessary for normal hematopoiesis (Bravo et al. 2014).

RUNX1 mutations are a prognostic biomarker, associated with shorter overall survival (Bejar et al. 2011; NCCN 2014).​

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

Suggested Citation: Strickland, S., A. Kim. 2014. RUNX1 in Myelodysplastic Syndromes. My Cancer Genome https://www.padiracinnovation.org/content/disease/myelodysplastic-syndromes/runx1/ (Updated September 23).

Last Updated: September 23, 2014

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