细胞形态检查在伴AML1-ETO及CBFβ-MYH11阳性急性髓系白血病中的作用

The diagnostic effect of morphology in acute myeloid leukemia with AML1-ETO and CBFβ-MYH11 positive

目的探讨伴AML1-ETO和伴CBFβ-MYH11阳性急性髓系白血病患者骨髓细胞形态、免疫表型、染色体核型特点及预后基因表达,以及形态对此类白血病的提示作用。方法瑞士吉姆萨染色法观察骨髓细胞形态,流式细胞术检测白血病细胞免疫表型,PCR检测白血病43种融合基因,G显带法观察染色体核型,一代测序毛细管电泳法方法检测髓系预后基因。结果伴AML1-ETO阳性的患者6例(37.5%)以原始粒细胞增多为主,8例(50%)以核浆发育不平衡的异常中幼粒细胞增多为主,2例(12.5%)以原始、幼稚单核细胞增生为主;伴CBFβ-MYH11阳性6例(85%)以原始、幼稚单核细胞、原始粒细胞及异常嗜酸性粒细胞增生为主,1例以原始、幼稚单核细胞增生,未见异常嗜酸性粒细胞增多。结论AML1-ETO和CBFβ-MYH11阳性形态发现率分别为87.5%和86%,提示分子生物学检查在急性髓系白血病诊断中具有不可替代的作用。

Objective To study the morphology,immunophenotype,karyotype and prognosis gene expression in patients with AML1-ETO and CBFβ-MYH11 positive acute myeloid leukemia,and to reveal the role of morphology in these two kinds of leukemia.Methods The morphology of bone marrow cells was observed by Giemsa staining,immunophenotype of leukemia cells was detected by flow cytometry,43 fusion genes were detected by PCR,karyotype was detected by G-banding,and prognosis genes of myeloid cells were detected by using capillary electrophoresis of the first generation sequencing.Results In 16 cases with AML1-ETO positive acute myeloid leukemia,6 cases(37.5%)were mainly granulocytes,8 cases(50%)were mainly abnormal neutrophils,2 cases(12.5%)were mainly primary and immature monocytic hyperplasia.In 7 cases with CBFβ-MYH11 positive acute myeloid leukemia,6 cases(86%)were mainly primary、immature monocytic hyperplasia and abnormal eosinophils,1 cases showed no abnormal eosinophilia.Conclusion The positive rate of AML1-ETO and CBFβ-MYH11 positive forms are 87.5%and 86%,respectively,suggested that molecular biology plays an irreplaceable role in the diagnosis of acute myeloid leukemia.