SET-NUP214融合基因阳性的混合表型急性白血病研究

Study on Mixed Phenotype Acute Leukemia with SET-NUP214 Fusion Gene and Myeloid Sarcoma

目的探究SET-NUP214融合基因阳性且伴有髓细胞肉瘤的混合表型急性白血病（MPAL）病例的临床及分子生物学特征。方法通过病理组织活检，骨髓形态学检查，流式细胞术，染色体核型分析，多重巢式PCR扩增，基因转录本测序等方法进行分析。结果该患者阴道壁和淋巴结活检皆示小细胞恶性肿瘤；骨髓形态学结果为急性白血病；流式免疫分型提示髓系、B淋系混合表达；染色体核型分析存在包括del（7）（q22），t（16；17）（p13；q22）的复杂染色体异常；多重巢式PCR检测到SET-NUP214融合基因，融合位点为SET exon7／NUP214 exon18。结论该患者为极其罕见的SET-NUP214融合基因阳性，且伴有粒细胞肉瘤的MPAL。

Objective To study the features of a patient with mixed phenotype acute leukemia with SET- NUP214 fusion gene and myeloid sarcoma. Methods Pathological biopsy, bone marrow morphology, flow cytometry are performed and karyotyping, multiplex reverse transcriptase-polymerase chain reaction （RT-PCR）, sequencing are used for analysis. Results Pathological results showed tissues from vaginal wall and lymph node biopsies are small cell sarcoma; bone marrow cell morphology is AML. The myeloid and B-lymphoid markers are co-expressed in blast by FCM analysis; karyotype analysis shows del（7）（q22）, t（16,17）（p13;q22）; SET-NUP214 fusion gene are detected by RT-PCR. Conclusion According to the results of the MICM classification, the patient is an unusual case of mixed phenotype acute leukemia with SET-NUP214 fusion gene and myeloid sarcoma.