title: Prognostic relevance of RUNX1 mutations in T-cell acute lymphoblastic leukemia.
abstract: 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.
authors.affiliation: MLL Munich Leukemia Laboratory, Max-Lebsche-Platz 31, 81377 Munich, Germany. vera.grossmann@mll.com
authors.forename: Vera
authors.initials: V
authors.lastname: Grossmann
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Kern
authors.forename: Stefan
authors.initials: S
authors.lastname: Harbich
authors.forename: Tamara
authors.initials: T
authors.lastname: Alpermann
authors.forename: Sabine
authors.initials: S
authors.lastname: Jeromin
authors.forename: Susanne
authors.initials: S
authors.lastname: Schnittger
authors.forename: Claudia
authors.initials: C
authors.lastname: Haferlach
authors.forename: Torsten
authors.initials: T
authors.lastname: Haferlach
authors.forename: Alexander
authors.initials: A
authors.lastname: Kohlmann
mesh_terms: D000328:Adult; D000367:Age Factors; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D018572:Disease-Free Survival; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D054218:Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000401:mortality*; D015996:Survival Rate
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D005819:Genetic Markers; C493728:RUNX1 protein, human