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目的:应用高通量转录组测序分析染色体核型正常的髓系白血病患者中可能存在的融合基因。方法:选择2017年5月至2019年1月南昌大学第一附属医院3例染色体核型正常并且常见融合基因阴性的髓系白血病患者为研究对象，通过高通量基因测序技术对患者骨髓单个核细胞进行转录组测序。采用Defuse软件分析转录组数据中的基因融合序列，用逆转录-聚合酶链反应（RT-PCR）和Sanger测序验证具有明确病理意义的融合基因。结果:3例患者均经临床表现、骨髓细胞形态学、免疫学及组织化学染色确诊为髓系白血病，细胞遗传学检测为正常染色体核型，荧光原位杂交和RT-PCR检测BCR-ABL1、PML-RARA等常见融合基因均阴性。通过转录组测序和分析发现3例患者分别携带病理意义明确的罕见型融合基因BCR-FGFR1、CPSF6-RARG和NUP98-RARG。结论:应用转录组测序可准确分析染色体核型正常的髓系白血病患者中可能存在的少见型融合基因。“,”Objective:To analyze the possible fusion genes with high-throughput transcriptome sequencing in myeloid leukemia patients with normal karyotype.Methods:From May 2017 to January 2019, three cases of myeloid leukemia patients with normal karyotype and negative for common fusion genes from the First Affiliated Hospital of Nanchang University were selected as the research objects. The transcriptome sequencing of bone marrow mononuclear cells was performed by high-throughput gene sequencing technology. Defuse software was used to analyze the gene fusion sequence in the transcriptome data, reverse-transcription polymerase chain reaction (RT-PCR) and Sanger sequencing were used to verify the fusion gene with clear pathological significance.Results:All three patients were diagnosed with myeloid leukemia by clinical manifestations, bone marrow cell morphology, immunology, and histochemical staining. Cytogenetic tests showed normal chromosome karyotypes. Fluorescence in situ hybridization and RT-PCR were used to detect BCR-ABL1, PML-RARA, and other common fusion genes. The results were all negative. Transcriptome sequencing and fusion transcripts analysis revealed that these three patients carried rare fusion genes with clear pathological significance, which included BCR-FGFR1, CPSF6-RARG, and NUP98-RARG, respectively.Conclusion:Transcriptome sequencing can accurately analyze rare but pathologically significant fusion genes that may exist in myeloid leukemia patients with normal karyotypes.