同时伴有t(8;21)和inv(16)/t(16;16)染色体易位的急性髓系白血病:实验室诊断

摘要

Objective To report a rare case with t ( 8; 21 ) and inv ( 16 ) /t ( 16; 16 ) double translocation, and to investigate laboratory features of the case. Methods Bone marrow smears were prepared for morphological analysis and flow cytometric detection; cytogenetics analysis was made by flow cytometry ( FCM ); AML1/ETO and CBFβ/MYH11 fusion transcript were detected by real - time quantitative reverse transcription - polymerase chain reaction ( RQ - PCR ) and fluorescence in situ hybridization ( FISH ). Results Diagnosis from cell morphology was acute M4Eo; Medullary antigen was expressed by FCM; Karyotype was 46, xx, t ( 8; 21 ) ( q22; q22 ) [ 11 ] / 46, xx [ 9 ] by CCA; Fusion genes AML1/ET0 and CBFβ/ MYHllwas positive. Conclusion The laboratory features of the case is of great importance for the research on CBF - AM's Pathogenic mechanism and it also provides laboratory evidence for clinic to perform individualized treatment.%目的 探讨同时具有t(8;21)和inv(16) /t(16;16)染色体易位的急性髓系白血病(AML)的实验室诊断特征.方法 取患者骨髓进行形态学及流式细胞术检测;应用RHG显带技术进行细胞遗传学分析;应用实时荧光定量聚合酶链式反应(RQ-PCR)和荧光原位杂交技术(FISH)检测AML1/ETO、核心结合因子-β(CBFβ)/平滑肌肌球蛋白重链基因(MYH11)融合基因.结果 细胞形态学诊断为急性粒单核细胞白血病伴嗜酸粒细胞增多(M4Eo);流式细胞术分析细胞表达髓系抗原;染色体RHG显带示46,xx,t(8;21)(q22;q22)[11]/ /46,xx[9];FISH及RQ-PCR检测示AML1/ETO及CBFβ/MYH11阳性.结论 该病例的实验室诊断结果对CBF-AML致病机制的研究具有重要意义,也为临床实施个体化治疗方案提供了实验室依据.