遗传学和免疫表型分析在急性粒单核细胞白血病临床诊断中的意义

Significance of Genetical and Immunological Analysis in Acute Myelomonocytic Leukemia for Clinical Diagnosis

目的 探讨染色体G显带、荧光原位杂交和流式细胞术在急性粒单核细胞白血病临床诊断、鉴别诊断和预后中的意义。方法 运用染色体G显带和流式细胞术 ,对 15例骨髓细胞形态学拟诊为急性髓系白血病M4型 (AML M4 )的患者进行核型分析和免疫分型 ,并用间期荧光原位杂交技术 (inter phasalfluorescenceinsituhybridization ,I FISH)对其中 6例患者进行检测。结果 染色体G显带核型分析显示正常核型 6例 ,伴有inv(16 ) (p13;q2 2 )异常 2例 ,伴有del(16 ) (q2 2 )、 X ,5 q ,t(8;2 1) (q2 2 ;q2 2 )、t(9 ;2 2 ) (q34;q11)、t(11;17)和t(11;?)异常各 1例 ,另有 2例无分裂相可供分析。I FISH对 3例患者进行CBFβ基因重排检测 ,2例阳性 ,1例阴性 ;对这例阴性患者进一步检测AML1/ETO融合基因 ,结果阳性 ;3例患者检测了MLL基因重排 ,2例阳性 ,1例阴性但伴有t(9;2 2 )异常 ,BCR/ABL融合基因阳性。免疫分型提示 14例患者有髓系和单核系分化抗原的共同表达 ,1例仅有髓系表达。结论 联合运用染色体G显带、荧光原位杂交技术和流式细胞术 ,对于急性粒单核细胞白血病诊断、鉴别诊断和预后 。

Objective To elucidate the significance of chromosomal G banding, interphasal fluorescence in situ hybridization(I FISH) and flow cytometry for the clinical diagnosis, differentiation and prognosis estimation in acute myelomonocytic leukemia.Methods Chromosomal G banding and flow cytometry were used for 15 cases who were initially diagnosed the M4 subtype from acute myeloid leukemia (AML M4) by morphology, including 6 cases differentiated by I FISH.Results Karyotypes of 15 cases were analyzed, 6 normal, 2 involving inv(16)(p13;q22), 1 involving del(16)(q22), 1 involving X,5q ,t(8;21)(q22;q22) , 1 involving t(9;22) (q34;q11), 1 involving t(11;17), 1 involving t(11;?) and 2 having no metaphase for analysis.By I FISH, 2 cases were found with CBF β gene rearrangement and 1 not, but the latter showed AML1/ETO fusion gene positive. In addition, 2 cases showed MLL gene rearrangement positive and one negative who involved t(9;22) and BCR/ABL fusion gene positive. Immunophenotypes of 15 cases expressed monocytic and granulocytic immunological markers, but one only expressed granulocytic immunological markers.Conclusion The combination of chromosomal G banding, I FISH and flow cytometry show great significance in the diagnosis, differentiation and prognosis estimation of acute myelomonocytic leukemia.