Haematologica (Dec 2011)

Prognostic relevance of RUNX1 mutations in T-cell acute lymphoblastic leukemia

  • Vera Grossmann,
  • Wolfgang Kern,
  • Stefan Harbich,
  • Tamara Alpermann,
  • Sabine Jeromin,
  • Susanne Schnittger,
  • Claudia Haferlach,
  • Torsten Haferlach,
  • Alexander Kohlmann

DOI
https://doi.org/10.3324/haematol.2011.043919
Journal volume & issue
Vol. 96, no. 12

Abstract

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The runt-related transcription factor 1, RUNX1, is crucial in the development of myeloid and lymphoid cell lineages and has been reported to be mutated in myeloid malignancies in approximately 30% of cases. In this study, the mutational status of RUNX1 was investigated in 128 acute lymphoblastic leukemia patients. We detected a mutation rate of 18.3% (13 of 71) in patients with T-cell acute lymphoblastic leukemia, 3.8% (2 of 52) in patients with B-cell acute lymphoblastic leukemia and no mutation (0 of 5) in patients with natural killer cell leukemia, respectively. In T-cell acute lymphoblastic leukemia patients, RUNX1 mutations were significantly associated with higher age (P=0.017) and lower white blood cell count (P=0.038). Moreover, an inferior outcome was observed in the subgroup of early T-cell acute lymphoblastic leukemia patients carrying RUNX1 mutations for overall survival (P=0.043). In conclusion, RUNX1 mutations are an important novel biomarker for a comprehensive characterization of T-cell acute lymphoblastic leukemia with poor prognostic impact and have implications for use also in monitoring disease.