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  • Prognostic significance of ...
    Petiti, Jessica; Rosso, Valentina; Lo Iacono, Marco; Calabrese, Chiara; Signorino, Elisabetta; Gaidano, Valentina; Berger, Massimo; Saglio, Giuseppe; Cilloni, Daniela

    Leukemia research, April 2018, 2018-04-00, 20180401, Volume: 67
    Journal Article

    •WT1 rs16754 polymorphism correlates with a better OS and EFS in AML patients.•WT1 SNP rs16754 correlates with a better OS in AML patients treated with HMAs.•We developed a novel PNA based assay to identify WT1 rs16754 polymorphism. Acute myeloid leukemia is a genetically heterogeneous disease characterized by the accumulation of mutations in hematopoietic progenitor cells. For its heterogeneity, prognostic markers are very useful for therapeutic choice. The most important prognostic markers are age, white blood cell count, chromosomal alterations and gene mutations. Recent works have studied the prognostic significance of WT1 polymorphisms and mutations, highlighting the role of SNP rs16754 as a positive prognostic factor in AML patients. Nevertheless, the data are still unclear. To investigate the role of WT1 rs16754 polymorphism in AML, we designed a new tool for the detection using PNA directed PCR Clamping technology. Our data were able to establish a correlation between SNP rs16754 and the clinical outcome. Our results support the hypothesis that rs16754 polymorphism is an independent positive prognostic molecular marker that could be useful for therapeutic choice. In view of this, we described a novel assay faster, more sensitive and cheaper than DNA sequencing. The assay allows evaluating WT1 rs16754 polymorphism in diagnostic routine to improve prognostic information faster and without over-costing for diagnostic laboratories.