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目的探讨非典型t(15;17)易位的急性早幼粒细胞白血病(APL)患者的形态学、免疫表型、遗传学特征和预后的关系。方法取骨髓液,瑞氏染色分析形态,短期培养法R显带核型分析,流式细胞仪检测免疫表型,FISH(荧光原位杂交)检测PML-RARα融合基因。结果 41例患者中,形态学典型的40例,不典型的1例为骨髓坏死。41例患者均为髓系表达:CD13+、CD33+、c MPO+、HLA-DR多为阴性(仅2例阳性)。9例CD15+(22.0%),16例CD117+(39.0%),6例CD34+(14.6%),4例伴淋系抗原表达(9.8%)。核型分析为经典的t(15;17)易位的29例(70.7%),有t(15;17)同时伴额外染色体异常的5例(12.2%),不伴t(15;17)易位的7例(17.1%)。PML-RARα融合基因阳性34例(82.9%),阴性7例(17.1%)。儿童患者不伴t(15;17)易位的比例较成人高(P<0.05)。儿童患者复发或死亡率高于成人(P<0.05)。结论遗传学PML-RARα融合基因阴性的APL少见,容易误诊而延误治疗。儿童APL患者不伴t(15;17)易位的比例较成人高,且预后不良。
Objective To investigate the relationship between the morphology, immunophenotype, genetics and prognosis of patients with atypical t (15; 17) translocations of acute promyelocytic leukemia (APL). Methods BMSCs were analyzed by Wright staining, R-band karyotype analysis by short-term culture, immunophenotype by flow cytometry and FISH (fluorescence in situ hybridization) to detect PML-RARα fusion gene. Results Of the 41 patients, 40 were typical morphologically and 1 was not typical of bone marrow necrosis. The myeloid expression was found in all the 41 cases: CD13 +, CD33 +, c MPO +, and HLA-DR were mostly negative (only 2 positive). Nine cases had CD15 + (22.0%), 16 cases with CD117 + (39.0%), 6 cases with CD34 + (14.6%) and 4 cases with lymphoid antigen expression (9.8%). Karyotype analysis was found in 29 (70.7%) of the classic t (15; 17) translocations, t (15; 17) and 5 cases (12.2%) with extra chromosomal abnormalities without t (15; 17) Translocation in 7 cases (17.1%). PML-RARα fusion gene positive in 34 cases (82.9%), negative in 7 cases (17.1%). The proportion of children with t (15; 17) translocations was higher than that of adults (P <0.05). Children with recurrent or higher mortality than adults (P <0.05). Conclusion Genetic APL with negative PML-RARα fusion gene is rare and may be misdiagnosed and delayed treatment. Children with APL patients without t (15; 17) translocation ratio higher than adults, and the prognosis is poor.