28例急性巨核细胞白血病实验室检查结果分析

目的:分析急性巨核细胞白血病(AMKL)患者实验室检查特点。方法:4管用8色抗体组合对28例AMKL患者的骨髓有核细胞进行免疫表型分析,同时结合分析患者骨髓细胞形态学、融合基因和染色体核型等检查结果。结果:28例AMKL患者中阳性表达率较高的是巨核细胞相关抗体:CD41a、CD61、CD42b、CD36,阳性率分别为81. 48%、92. 86%、72. 00%、70. 83%,其中,CD41a、CD61、CD42b三种抗体共表达的患者占53. 57%,至少表达两种抗体的患者占82. 14%。髓系祖细胞相关标志:CD117、CD34、CD38、HLA-DR阳性表达率分别为64. 29%、42. 86%、64. 29%和46. 15%,与非APL的AML患者相比表达率均较低(P 0.01);髓系全程抗原CD13、CD33在AMKL中阳性表达率与非APL的AML之间无统计学差异。髓系中后期抗原CD15及单核系抗原CD64、CD14、CD300e和胞浆抗原MPO、cCD79a和cCD3均阴性。与非Down综合征相关AMKL(non-DS-AMKL)相比,CD7与CD11b的表达在Down综合征相关AMKL(DS-AMKL)中较高(P 0.05)。AMKL患者中17例(65.4%)为复杂染色体核型,5例为+21染色体异常;仅5例患者核型正常。25例行白血病融合基因筛查,24例(96%)患者WT1基因表达增高(40.24±59.14%),12例患者(70.58%) EVI1基因表达增高(53.93±37.98%),4例患者融合基因阳性(2例MLL-AF9阳性,1例TLS-ERG,1例P210 BCL/ABL)。结论:AMKL中82.14%患者表达至少两种巨核细胞相关标志,髓系祖细胞标志表达相对较低,多为复杂染色体核型异常,WT1及EVI1异常表达率较高。

Analysis on the Laboratory Examination Characteristics in 28 Patients with Acute Megakaryoblastic Leukemia

Objective: To analyze the laboratory characteristics in patients with acute megakaryoblastic leukemia(AMKL).Methods: The immunophenotypes of leukemia cells in 28 patients with AMKL were analyzed by means of 4 tubes of 8 color panel. Meanwhile, bone marrow morphology,cell chemistry,chromosome karyotype and gene were examined.Results: Among 28 AMKL patients, the highest positive rates were macrokaryocyte-associated antibodies: CD41a, CD61, CD42b, CD36. The positive rates were 81.48%, 92.86%, 72.00% and 70.83%, respectively. Among them, 53.57% of the patients expressed CD41a, CD61 and CD42b, and 82.14% of the patients expressed at least two kinds of antibodies. The positive expression rates of CD117, CD34, CD38 and HLA-DR were 64.29%, 42.86%, 64.29% and 46.15% respectively, which were lower in AMKL patients than in non-APL patients (P< 0.01). There was no significant difference between the positive expression rates of CD13 and CD33 in AMKL and non-APL AML patients. CD15, CD64, CD14, CD300e and MPO, cCD79a and cCD3 were all negative. Compared with non-Down syndrome-related AMKL (non-DS-AMKL), the expression of CD7 and CD11b was higher in Down syndrome-related AMKL (DS-AMKL) (P < 0.05). Among AMKL patients, 17 (65.4%) had complex chromosome karyotypes and 5 had + 21 chromosome abnormalities; only 5 had normal karyotypes. Twenty-five leukemia patients were screened for fusion genes. WT1 gene expression increased in 24 patients (96%) and 12 patients (70.58%) with EVI1 gene expression increased (53.93 < 37.98%). Four patients were positive for fusion genes (2 MLL-AF9, 1 TLS-ERG and 1 P210 BCL/ABL).Conclusion: 82.14% of AMKL patients express at least two megakaryocyte-related markers. The expression of myeloid progenitor cell markers is relatively low, most of which are complex chromosomal karyotype abnormalities. The abnormal expression rates of WT1 and EVI1 are higher.