SET-NUP214融合基因阳性的混合表型急性白血病研究

摘要

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 SETNUP214 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)(p 13;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.