28例急性巨核细胞白血病实验室检查结果分析 <sup>*</sup>

doi:10.13523/j.cb.20190901

中国生物工程杂志

2019, Vol. 39

Issue (9): 2-10 DOI: 10.13523/j.cb.20190901

研究报告

28例急性巨核细胞白血病实验室检查结果分析 ^*

贺玲玲,骆婷婷,常艳,王亚哲,袁晓英,石韦华,赖悦云,石红霞,秦亚溱,黄晓军,刘艳荣(

)

北京大学人民医院北京大学血液病研究所北京 100044

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

HE Ling-ling,LUO Ting-ting,CHANG Yan,WANG Ya-zhe,YUAN Xiao-ying,SHI Wei-hua,LAI Yue-yun,SHI Hong-xia,QIN Ya-zhen,HUANG Xiao-jun,LIU Yan-rong(

)

Institute of Hematology,People Hospital,Peking University,Beijing 100044 ,China

全文: PDF(592 KB) HTML

摘要：

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。

关键词： 急性巨核细胞白血病; 免疫表型分析; 流式细胞术

Abstract:

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.

Key words: Acute megakaryoblastic leukemia Immunophenotype Flow cytometry

收稿日期: 2019-08-15 出版日期: 2019-09-20

ZTFLH:

Q291

基金资助: * 国家重大科学仪器设备开发专项(2011YQ03013407)

通讯作者: 刘艳荣 E-mail: yrliu163@163.com

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	贺玲玲
	骆婷婷
	常艳
	王亚哲
	袁晓英
	石韦华
	赖悦云
	石红霞
	秦亚溱
	黄晓军
	刘艳荣

引用本文:

贺玲玲,骆婷婷,常艳,王亚哲,袁晓英,石韦华,赖悦云,石红霞,秦亚溱,黄晓军,刘艳荣. 28例急性巨核细胞白血病实验室检查结果分析 ^*[J]. 中国生物工程杂志, 2019, 39(9): 2-10.

HE Ling-ling,LUO Ting-ting,CHANG Yan,WANG Ya-zhe,YUAN Xiao-ying,SHI Wei-hua,LAI Yue-yun,SHI Hong-xia,QIN Ya-zhen,HUANG Xiao-jun,LIU Yan-rong. Analysis on the Laboratory Examination Characteristics in 28 Patients with Acute Megakaryoblastic Leukemia. China Biotechnology, 2019, 39(9): 2-10.

链接本文:

https://manu60.magtech.com.cn/biotech/CN/10.13523/j.cb.20190901 或 https://manu60.magtech.com.cn/biotech/CN/Y2019/V39/I9/2

表1 28例急性巨核细胞白血病患者抗体表达不同强度阳性率

表2 28例急性巨核细胞白血病患者中巨核细胞特异性抗体组合表达阳性率

表3 各抗原在非APL的AML与AMKL患者中的表达阳性率比较

图1 原始巨核细胞形态

序号		性别		年龄 (岁)		骨髓增生活跃程度			巨幼细胞 (%)	融合基因 X/abl(%)		染色体核型
1		女		0.1		Ⅲ			38	WT1 38.0 EVI1 78.9		47,XX,t(3;12;16)(q26;13;24),der(17)t(1;17)(q21;p13),+21 [4] /47,idem,t(1,3)(q25;q21)[19]
2		男		0.6		Ⅱ			83	WT1 32.1		46,XY[16]
3		女		0.9		Ⅳ			38	WT1 24.8		48,XX,+2,del(15)(q15;q24),+19[10]
4		男		1.0		Ⅲ			74	WT1 1.3 EVI1 49.8		46,Y,del(X)(q22),add(2)(q24),-7,del(9)(q22;q32),16qh+c,+mar1[3]/46,Y,-X,add(2)(q24),-7,del(9)(q22;q32),16qh+c,+mar1,+mar2[1]/46,XY, 16qh+c[7] 16qh+考虑为体质性异常
5		女		1.0		Ⅲ			86	WT1 16.6		47,XX,-7,+21,+21[5]/47,XX,der(7;18)(q10;q10),+21,+21[9]
6		男		1.0		Ⅲ			64	WT1 88.8		46,XY,add(9)(q34)[8]/46,idm,del(20)(p11)[2]
7		男		1.0		Ⅱ-Ⅲ			56	WT1 20.6		46,XY,del(13)(q12;q22)[2]/46,Y,t(X;12)(p11;q15),del(13)(q12;q22) [7]/46,XY, [1]
8		女		1.0		Ⅲ			31	WT1 20.4 EVI1 36.1		48,XX,del(7)(q31),del(8)(q21;q22),+9,der(9),del(9)(q11;q13),del(9)(q22;q34)X2,+19[6]/47,idem,-21[6] /46,XX[8]
序号	性别		年龄 (岁)		骨髓增生活跃程度		巨幼细胞 (%)	融合基因 X/abl(%)			染色体核型
9	男		1.0		Ⅱ		22	MLL-AF9 8.4 WT1 6.1 EVI1 122.6			46,XY[16]
10	男		1.1		Ⅱ		30	WT1 2.4 EVI1 61.9			48,XY,add(3)(p25),del(5)(q22;q35),+19,+mar[5]/48,idm,add(3)(q11)[8]/47,XY,add(3)(p25),del(5)(q22;q35),del(12)(p11),+19[2]/47,XY,der(3)add(3)(p25)add(3)(q11),del(5)(q22;q35),+19[5]/46,XY[4]
11	男		1.5		Ⅱ		56	MLL-AF9 0.17			46,XY [20]
12	男		1.9		Ⅴ		50	WT1 9.7 EVI1 101.3			49,XY,+4,+8,+10[1]/46,XY[2]
13	男		1.9		Ⅱ		56	WT1 185.6			46,XY, [20]
14	女		2.0		Ⅲ		39	WT1 16.0			50,XX,+8,+10,+21,+21[7]/46,XX[13]
15	男		2.0		Ⅱ-Ⅲ		35	WT1 10.0 EVI1 19.4			46,XY,t(1;11)(p32;q23),add(3)(q11),t(10;16)(q22;p13),inv(11)(p15;q13),del(20)(q11)[13]/47,XY,t(1;11),add(3),+8,t(10;16),inv(11) [4]/46,XY[3]
16	男		2.0		Ⅱ		76	WT1 20.0 EVI1 96.1			46,XY,add(19)(p13)[1]/46,XY,der(2;3)(q10;p10),+3,inv(12)(q22;q24),15ps+[1]/46,XY[18] 15ps+考虑为体质性异常
17	男		2.0		Ⅱ		31	WT1 57.2			47,XY,del(9)(q22;q32),+19[1]/46,XY[19]
18	女		2.0		Ⅱ		22	-			-
19	男		2.0		Ⅱ		89	WT1 217.3			46,XY
20	男		2.0		Ⅲ		81	WT1 33.8 EVI1 13.8			56,XY,+2,+2,+6,+7,+8,+10,+15,+19,+19,+20[10]
21	男		4.0		Ⅱ-Ⅲ		85	WT1 1.3 PRAME 244.7			45-50,XY,t(4;11)(q21;q23),+7,+8,+del(11)(q23),+del(11)(q23),del(20)(q11),+21 [cp6]
22	男		9.0		Ⅲ		52	-			47,XY,+3 [5]/46,XY [15]
23	男		27.0		Ⅲ		42	-			-
24	男		40.0		Ⅱ		97	TLS-ERG 342.2 WT1 141.7			48,Y,del(X)(q22),der(2)t(1;2)(q23;q37),del(9)(q22;q32),+10,-13,+14,t(16;21)(p11;q22),+mar[5]/46,XY, [4]
25	男		47.0		Ⅲ-Ⅳ		74	WT1 2.4 EVI1 15.7 PRAME 2.0			44-50,XY,+del(1)(p13),del(1)(q21),dic(1;2)(q21;p25),+2,add(4)(p16),+add(4)(p16),-5,+6,der(11),t(1;11)(q21;q23),add(13)(q34),add(15)(p13),+add(15)(p13),dic(17;19)(p13;q13),+18,add(19)(q13),+21,add(22)(p13),+mar\(cp5)/47,XY,+17 [1]/46,XY [9]
26	男		52.0		Ⅲ		71	WT1 5.1 PREAME 2.0 EVI1 14.3			41-42,XY,t(1;5)(q32;q31),t(3;22)(q21;p11),-6,-7,del(8)(q21),add(9)(q34),-12,-14,-17,add(19)(p13),-22,+2mar [cp3]/46,XY [7]
27	男		62.0		Ⅲ		61	WT1 11.2 EVI1 37.3			42-43,XY,+X,+Y,del(1),(q41),add(5)(q11),-7,-9,-13,add(14)(p13),-16,-18,add(18)(p11),-21,+mar1-mar3 [cp10]
28	女		69.0		Ⅲ		21	WT1 3.3 BCR/ABL(P210) 34.9			46,XX,t(9;22;22)(q34;q11;q13)[1]/46,xx,t(9;22)(q34;q11)[5]

表4 28例急性巨核细胞白血病患者临床资料及实验室检查结果

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