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High frequency of RUNX1 mutation in myelodysplastic syndrome patients with whole-arm translocation of der(1;7)(q10;p10).

The der(1;7)(q10;p10) is a recurrent chromosomal abnormality in MDS, resulting in trisomy 1q and monosomy 7q. There is some controversy over the prognosis of the der(1;7)(q10;p10). The genetic basis of MDS patients with der(1;7)(q10;p10) remains poorly defined. In this study, we have documented the disease features and the mutational landscape of a series of patients with der(1;7)(q10;p10). We observed that MDS patients with der(1;7)(q10;p10) present male predominance and have a better outcome than the -7/del(7q) group. Our findings revealed that the mutatome of patients with der(1;7)(q10;p10) is different from that of MDS with -7/del(7q). We demonstrate for the first time, to our knowledge, that der(1;7)(q10;p10) is associated with a high frequency of mutations in RUNX1 (40.9%). We found that most the mutations were located in the Runt domain. These results indicated that RUNX1 mutations might participate in the pathogenesis of MDS patients with der(1;7)(q10;p10).