四例急性巨核细胞白血病实验室诊断分析

Laboratory diagnosis and analysis of 4 patients of acute megakaryocytic leukemia

目的探讨急性巨核细胞白血病(AMKL)的实验室诊断方法。方法采用流式细胞术单克隆抗体直接免疫标记检测白血病细胞表面相关抗原表达;48 h培养法R显带检测染色体核型;RT-PCR法检测BCR/ABL融合基因P210型与BCR/ABL融合基因P190型;骨髓活检与骨髓形态学分析骨髓异常情况。结果 4例AMKL均表现CD41与CD42的高表达,其中两例伴CD13和CD33的高表达;1例核型异常47,XY,+1[6]/46,XY[14];BCR/ABL融合基因P210型与P190型均阴性;骨髓活检与骨髓形态学分析4例均见骨髓原始、幼稚巨核细胞增生。结论依靠细胞形态学、流式细胞术白血病免疫分型检测及细胞遗传学可以确定AMKL的诊断。

Objective To investigate the laboratory diagnosis of acute megakaryocytic leukemia(AMKL).Methods Flow cytometry was used to detect expression of antigen in leukemia cell surface with monoclonal antibodies. Chromosome karyotype was detected with R-band staining after 48-hour culture. The gene type of BCR/ABL fusion gene was detected by Real-time PCR. Bone marrow biopsy and bone marrow morphology analysis were applied to detect bone marrow abnormalities. Results CD41 and CD42 were highly expressed in 4 cases of AMKL, including two cases with high expression of CD13 and CD33. One case had abnormal karyotype 47,XY,+1[6]/46,XY[14]. The BCR/ABL fusion gene of P210 type and P190 type were negative. The results of bone marrow biopsy and bone marrow morphology analysis showed that the primitive giant cells and immature giant cells were proliferated in 4 cases. Conclusion AMKL can be diagnosed based on cytomorphology, flow cytometry for leukemia immunophenotyping and cytogenetics.