NUP98 rearrangements in myeloid neoplasms in pediatric and young adult patients

This study reports the frequency and prognostic significance of NUP98 rearrangements in a homogeneous cohort of pediatric and young adult patients with myeloid neoplasms treated according successive versions of AML-MM protocol. The frequency of NUP98 aberrations was 2,7% (4 of 147) in primary acute myeloid leukemia (AML) and 12,5% (1 of 8) in MDSassociated AML. In the primary AML cohort, NUP98 rearrangements were associated with a significantly higher cumulative incidence of relapse compared to both the overall NUP98- negative AML group (p < 0,0001) and prognostically unfavorable AML subtypes, including KMT2A rearrangements (p < 0,01) and FLT3-ITD mutations (p < 0,05). Furthermore, we demonstrate the potential efficacy of natural killer cell-based therapy prior to hemopoietic stem cell transplantation in a patient harboring a NUP98 rearrangement.

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