Mutation in TET2 or TP53 predicts poor survival in patients with myelodysplastic syndrome receiving hypomethylating treatment or stem cell transplantation

Recent molecular studies identified genetic mutations in myelodysplastic syndrome (MDS) and their associations with clinical parameters.1, 2 As an increasing number of recurrent somatic mutations have been found, many investigators are focusing on genetic mutations as candidate molecular markers for MDS prognosis and treatment outcomes, especially following hypomethylating treatment (HMT) or stem cell transplantation (SCT). In this study, we analyzed recurrent TET2, TP53, ETV6, RUNX1, EZH2, ASXL1, SF3B1, U2AF1 and SRSF2 mutations, which are relatively frequent, and their influence on survival was reported independently of clinical parameters. Fifty-two patients receiving HMT and/or SCT for MDS at our institution from April 2009 to May 2011 were retrospectively analyzed.