Strategies for identifying <i>NUP98</i> rearrangements in adult myeloid neoplasms.

ABSTRACT: Nucleoporin 98 rearrangements (NUP98r) are recurrent in myeloid neoplasms and are subtype-defining for acute myeloid leukemia (AML) in the World Health Organization Classification 5th edition (WHO5) and the International Consensus Classification (ICC). Identification of NUP98r is essential given the frequency of treatment resistance and possibility of sensitivity to targeted therapies. However, NUP98r is often cryptic on karyotype and has over 40 described partners. Therefore, it is underdiagnosed in the absence of dedicated testing that is not always routine practice, e.g., RNA-based next generation sequencing (NGS), NUP98 break-apart fluorescence in situ hybridization, or real-time-quantitative polymerase chain reaction for specific NUP98 fusions. Historically, AML with NUP98r has receiv

SUBMITTER: Yuen LD 

PROVIDER: S-EPMC12862305 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature