Induction of mutant Npm1 after development of Dnmt3a-mutant CH causes progression to myeloproliferative disorder (MPD), and more aggressive MPD is observed with longer latency between mutations.
Thus, NPM1 mutations are involved in the transformation from MDS to AML or MPN to blast phase in single cases, which should be further confirmed in larger studies.
We determined mutations and promoter methylation status of NPM1 using pyrosequencing in 199 samples of myeloid neoplasia including myeloproliferative disorders (MPD).