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Updated: Jun 1, 2025
A Detailed Protocol for Characterizing the Murine C1498 Cell Line and its Associated Leukemia Mouse Model
Published on: October 14, 2016
Clinicopathologic and Molecular Characterization of NUP98-Rearranged Acute Leukemias
Sujata Sajjan1, Estelle E Oertling1, Franklin Fuda1
1Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Introduction:
NUP98 rearrangements are rare in acute leukemias and portend a poor prognosis.
Methods:
This study explored clinicopathologic and molecular features of five patients with NUP98 rearranged (NUP98-r) acute leukemias, including three females and two males with a median age of 34 years.
Results:
NUP98 fusion partners were associated with distinctive leukemia characteristics and biology. Three patients had NUP98::NSD1-r acute myeloid leukemia (AML, all cytogenetically cryptic and with concomitant FLT3-ITD) and unfavorable prognoses (in two patients), one patient had NUP98::HOXA9-r AML with morphologic and immunophenotypic features resembling acute promyelocytic leukemia, and lastly, one patient had previously underreported NUP98::MLLT1-r B/T mixed phenotype acute leukemia. After a median follow-up of 24.7 months, median overall survival was 30 months and three of five patients (60%) remained in complete remission at the last follow-up.
Conclusion:
Our study expands the clinical and molecular spectrum of NUP98-r acute leukemias and recommends FISH testing for NUP98 rearrangement on those leukemia cases without recurrent gene rearrangements and/or normal karyotype followed by molecular confirmation to improve timely diagnosis and clinical management.
