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Nucleoporin 98 Rearrangements in Acute Leukemia: A Genomic Landscape Study
Osama Batayneh1, Natalie Danziger2, Mahmoudreza Moein3
1Division of Hematology/Oncology, Department of Medicine, SUNY Upstate Medical University, Syracuse, New York, USA.
Hematological Oncology
|July 29, 2026
Summary
Nucleoporin 98 rearrangements (NUP98re) are rare in acute leukemia but linked to unique genomic alterations like WT1 and FLT3 mutations. This finding is crucial for understanding disease biology and developing targeted therapies.
Area of Science:
- Hematology
- Genomics
- Oncology
Background:
- Nucleoporin 98 rearrangements (NUP98re) are observed in various hematologic malignancies, often associated with poor prognosis, particularly in pediatric acute leukemia.
- Understanding the genomic landscape of NUP98re is essential for improving patient outcomes.
Purpose of the Study:
- To investigate the genomic alterations and fusion partners associated with NUP98re in acute leukemia.
- To characterize the clinical and demographic features of patients with NUP98re.
Main Methods:
- Analysis of next-generation sequencing data from 5905 acute leukemia patients using FoundationOneHeme.
- Identification and comparison of genomic alterations in NUP98re positive and NUP98wt cohorts.
Main Results:
- NUP98re were found in 1.3% of patients, with a younger median age (19 vs. 62 years) and higher frequency in admixed American ancestry.
- In acute myeloid leukemia, NUP98re cases showed increased WT1 (77%) and FLT3 (49%) mutations.
- NUP98wt cases frequently exhibited NPM1, KMT2A, TET2, DNMT3A, ASXL1, SRSF2, STAG2, and BCOR alterations.
Conclusions:
- NUP98re are rare, predominantly affecting younger individuals, and characterized by a distinct genomic profile including proliferative (FLT3, KRAS) and growth-suppressive (WT1) mutations.
- WT1 alterations show the highest co-occurrence with NUP98re, highlighting a unique biological signature.
- Further clinical studies are needed to elucidate the mechanisms and optimize management of NUP98re-driven leukemias.
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