Fourth publication of the network by James Heald at IJC


NUP98 rearrangements have been well characterized in pediatric acute myeloid leukemia (AML), however a comprehensive reference on occurrence and significance in adult populations has eluded the literature.

In this study, published in Blood Advances and conducted by James in collaboration with the Institut Català d’Oncologia (ICO) they provide the most extensive summary to date on frequency, co-mutations, breakpoint location and fusion partners in NUP98 rearrangement AML in adults.

To achieve this, the group analyzed almost 300 adult AML patient samples, using Fluorescence in situ hybridization (FISH) and next generation sequencing (NGS), detecting that NUP98 rearrangements in adult AML occur more frequently, than current estimates predict, at 3%. In addition, the study describes very rare fusion events in AML and describe the detection of a novel fusion, NUP98::EMX1.

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