• Wei Wei, Qiuju Liu, Fei Song, He Cao, Mengmeng Liu, Yan Jiang, Yanchun Li, and Sujun Gao.
• Department of Hematology, Cancer Center, the First Hospital of Jilin University, Changchun.
• Medicine (Baltimore). 2020 Oct 2; 99 (40): e22488e22488.

RationaleSome acute myeloid leukemia (AML) patients present with features mimicking the classical hypergranular subtype of acute promyelocytic leukemia (APL) but without the typical promyelocytic leukemia/retinoic acid receptor α (PML/RARα) rearrangement. Herein, we report an AML patient resembling APL but with nucleoporin 98/retinoid acid receptor gamma gene (NUP98/RARG) fusion transcript and Runt-related transcription factor 1 (RUNX1) mutation.Patient ConcernsAn 18-year-old male presented at the hospital with a diagnosis of AML.DiagnosesThe patient was diagnosed with bone marrow examination. Bone marrow smear displayed 90.5% promyelocytes. Fluorescence in situ hybridization analysis failed to detect the PML/RARα fusion transcript or RARα amplification. While real-time polymerase chain reaction showed positivity for the NUP98/RARG fusion transcript. G-banding karyotype analysis showed a normal karyotype.InterventionsThe patient showed resistance to arsenic trioxide and standard 3 + 7 chemotherapy, but eventually achieved complete remission through the Homoharringtonine, Cytarabine, and Aclarubicin chemotherapy.OutcomesThese measures resulted in a rapid response and disease control.LessonsAcute myeloid leukemia with the NUP98/RARG fusion gene and the RUNX1 mutation may be a special subtype of AML and may benefit from the alkaloid-based regimen.

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