一例同时伴有t(7;17;15)和8p-的急性早幼粒细胞白血病的临床研究

Clinical Study on A Case of an Acute Promyelocytic Leukemia Patient With t(7;17;15) and 8p-Chromosome Abnormalities

目的对一例t(7;17;15)伴8p复杂异常急性早幼粒细胞白血病(APL)病例进行实验诊断和临床观察。方法对该初诊APL患者进行多参数流式细胞术免疫分型、传统细胞遗传学分析,并应用荧光原位杂交(FISH)技术进一步明确染色体异常。结果染色体核型分析结果为46,XY,7q-,8p-,15q+,der(17)。FISH分析200个细胞中180个为1黄2红2绿信号,提示三元易位。免疫表型检测显示高表达CD13、CD33和MPO,而HLA-DR、CD14、CD34、cCD3、cCD79 a细胞标志阴性。该患者对维甲酸(ATRA)、三氧化二砷(As2O3)治疗敏感。结论 t(7;17;15)伴8p是APL中一种罕见的复杂异常核型,对ATRA、As2O3治疗敏感,完全缓解期长,预后较好。染色体核型分析和FISH技术是确认其复杂异常的可靠手段。

Objective To investigate the clinical and experimental characteristics of acute promyelocytic leukemia（APL） patient with complicated chromosome translocation.Methods For one newly diagnosed APL case,immunophenotype and chromosomal abnormalities were analysed by multi-parameter flow cytometry,the traditional cytogenetic analysis method and fluorescence in situ hybridization（FISH）.Results The karyotype of this patient was 46,XY,7q-,8p-,15q＋,der（17）.Two hundred cells were analysed by two-color FISH,among them,180 cell showed 1 yellow signal,2 red and 2 green signals,indicating that there wasd triple translocation.The immunophenotype was CD13,CD33 and MPO positive,however the expression of HLA-DR,CD14,CD34,cCD3 and cCD79 were negative.Clinically,the patient responsed well to the treatment of retinoic acid（ATRA） and arsenic trioxide（As2O3）.Conclusion The chromosome abnormality of t（7;17;15）is rare in APL patients.The patient with this abnormality is sensitive to the treatment of ATRA and As2O3,and FISH is a reliable method to identify such complicated aberrations.