Article
Comprehensive molecular and clinical characterization of NUP98 fusions in pediatric acute myeloid leukemia.
Haematologica - 1 Aug 2023
Bertrums Eline J M, Smith Jenny L, Harmon Lauren, Ries Rhonda E, Wang Yi-Cheng J, Alonzo Todd A, Menssen Andrew J, Chisholm Karen M, Leonti Amanda R, Tarlock Katherine, Ostronoff Fabiana, Pogosova-Agadjanyan Era L, Kaspers Gertjan J L, Hasle Henrik, Dworzak Michael, Walter Christiane, Muhlegger Nora, Morerio Cristina, Pardo Laura, Hirsch Betsy, Raimondi Susana, Cooper Todd M, Aplenc Richard, Gamis Alan S, Kolb Edward A, Farrar Jason E, Stirewalt Derek, Ma Xiaotu, Shaw Tim I, Furlan Scott N, Brodersen Lisa Eidenschink, Loken Michael R, Van den Heuvel-Eibrink Marry M, Zwaan C Michel, Triche Timothy J, Goemans Bianca F, Meshinchi Soheil
Abstract excerpt
NUP98 fusions comprise a family of rare recurrent alterations in AML, associated with adverse outcomes. In order to define the underlying biology and clinical implications of this family of fusions, we performed comprehensive transcriptome, epigenome, and immunophenotypic profiling of 2,235 children and young adults with AML and identified 160 NUP98 rearrangements (7.2%), including 108 NUP98-NSD1 (4.8%), 32...
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