Wei Wei, Liu Qiuju, Song Fei, Cao He, Liu Mengmeng, Jiang Yan, Li Yanchun, Gao Sujun
Department of Hematology, Cancer Center, the First Hospital of Jilin University, Changchun.
Peking High Trust Diagnostics, Co., Ltd., Peking, China.
Medicine (Baltimore). 2020 Oct 2;99(40):e22488. doi: 10.1097/MD.0000000000022488.
Some 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.
An 18-year-old male presented at the hospital with a diagnosis of AML.
The 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.
The patient showed resistance to arsenic trioxide and standard 3 + 7 chemotherapy, but eventually achieved complete remission through the Homoharringtonine, Cytarabine, and Aclarubicin chemotherapy.
These measures resulted in a rapid response and disease control.
Acute 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.
一些急性髓系白血病(AML)患者表现出类似急性早幼粒细胞白血病(APL)经典高颗粒亚型的特征,但没有典型的早幼粒细胞白血病/维甲酸受体α(PML/RARα)重排。在此,我们报告一例类似APL的AML患者,但存在核孔蛋白98/维甲酸受体γ基因(NUP98/RARG)融合转录本和 runt 相关转录因子 1(RUNX1)突变。
一名18岁男性因诊断为AML入院。
通过骨髓检查对患者进行诊断。骨髓涂片显示早幼粒细胞占90.5%。荧光原位杂交分析未检测到PML/RARα融合转录本或RARα扩增。而实时聚合酶链反应显示NUP98/RARG融合转录本呈阳性。G显带核型分析显示核型正常。
患者对三氧化二砷和标准的3+7化疗耐药,但最终通过高三尖杉酯碱、阿糖胞苷和阿克拉霉素化疗实现完全缓解。
这些措施带来了快速反应和疾病控制。
具有NUP98/RARG融合基因和RUNX1突变的急性髓系白血病可能是AML的一种特殊亚型,可能从基于生物碱的方案中获益。