Laboratory analysis of 6 cases of acute megakaryocytic leukemia in children

doi:10.3969/j.issn.1673-8640.2025.05.012

Abstract

Abstract:

Objective To analyze the laboratory diagnostic methods of acute megakaryocytic leukemia （AMKL） in children. Methods Totally，6 cases of AMKL from Shanghai Children's Hospital from January 2020 to December 2023 were enrolled for morphological FAB typing of bone marrow cells，immunophenotyping，surface associated antigen of leukemia cells，24 h culture G-banding chromosome karyotype of bone marrow cells，expressions of common fusion genes and single genes of leukemia，blood tumor mutation genes and whole transcriptomes. Results The proportion of bone marrow primitive megakaryocytes in 6 cases of AMKL was≥20%. Periodic acid-schiff stain （PAS） and alpha-naphthol acetate esterase staining （α-NAE） were both positive，while peroxidase stain （POX） and sodium fluoride inhibition test were both negative. The 6 cases all expressed cCD41，and 5 cases were CD61. Totally，3 cases had normal chromosome karyotypes，2 cases had complex chromosome karyotypes，and 1 case had structural abnormalities on chromosome 12. Five cases had WT1 gene positivity. One case of NUP98-KDM5A fusion gene was positive，and another case of CBFA2T3-GLIS2 fusion gene was positive in 2 routine blood tumor transcriptome test cases. Conclusions It is necessary to comprehensively analyze and diagnose AMKL in children by combining bone marrow cell morphology，flow cytometry immunophenotyping，cytogenetics and molecular biology determination methods，which is of significance for guiding the selection of clinical treatment plans and efficacy and prognosis judgment.

Key words: Acute megakaryocytic leukemia, Morphology, Immunology, Cytogenetics, Molecular biology, Next generation sequencing, Children

CLC Number:

R733.71

LIU Min, SUN Hengjuan, DU Chengkan, XIA Min, JIANG Linlin, WENG Wenhao, ZHANG Hong. Laboratory analysis of 6 cases of acute megakaryocytic leukemia in children[J]. Laboratory Medicine, 2025, 40(5): 484-488.

Figures/Tables 5

References 20

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病例编号	性别	年龄/月	血象				骨髓象		临床体征
病例编号	性别	年龄/月	白细胞/ （×109L^-1）	血红蛋白/ （g·L^-1）	血小板/ （×109L^-1）	原始细胞/%	增生程度	原始细胞/ %	贫血	出血	发热	肝肿大	脾肿大
1	女	18.0	18.10	98	18	29	明显活跃	28.5	有	有	有	1 cm	无
2	男	7.6	7.27	91	12	0	活跃	24.0	有	无	有	1 cm	5 cm
3	女	82.0	8.58	106	59	0	明显活跃	88.5	有	无	有	5 cm	无
4	男	58.0	8.48	120	67	0	明显活跃	23.5	无	有	无	无	无
5	男	9.7	13.39	84	20	0	活跃	20.0	有	有	无	无	无
6	男	17.0	8.30	93	105	0	活跃	91.0	有	无	有	4 cm	1 cm

病例编号	性别	年龄/月	血象				骨髓象		临床体征
病例编号	性别	年龄/月	白细胞/ （×109L^-1）	血红蛋白/ （g·L^-1）	血小板/ （×109L^-1）	原始细胞/%	增生程度	原始细胞/ %	贫血	出血	发热	肝肿大	脾肿大
1	女	18.0	18.10	98	18	29	明显活跃	28.5	有	有	有	1 cm	无
2	男	7.6	7.27	91	12	0	活跃	24.0	有	无	有	1 cm	5 cm
3	女	82.0	8.58	106	59	0	明显活跃	88.5	有	无	有	5 cm	无
4	男	58.0	8.48	120	67	0	明显活跃	23.5	无	有	无	无	无
5	男	9.7	13.39	84	20	0	活跃	20.0	有	有	无	无	无
6	男	17.0	8.30	93	105	0	活跃	91.0	有	无	有	4 cm	1 cm

病例编号	CD13	CD33	CD34	CD36	cCD41	CD56	CD61	CD117	HLA-DR
1	0	89.6	0	91.8	73.6	0	28.2	0	86.3
2	0	80.8	17.1	0	57.2	0	37.0	63.1	9.8
3	38.7	32.7	43.9	0	86.6	0	69.8	0	0
4	27.8	87.6	54.2	90.7	87.9	0	89.9	66.7	56.1
5	27.0	78.6	0	83.6	37.3	0	36.0	0	30.5
6	0	97.2	78.2	0	16.6	98.0	0	93.8	0

病例编号	CD13	CD33	CD34	CD36	cCD41	CD56	CD61	CD117	HLA-DR
1	0	89.6	0	91.8	73.6	0	28.2	0	86.3
2	0	80.8	17.1	0	57.2	0	37.0	63.1	9.8
3	38.7	32.7	43.9	0	86.6	0	69.8	0	0
4	27.8	87.6	54.2	90.7	87.9	0	89.9	66.7	56.1
5	27.0	78.6	0	83.6	37.3	0	36.0	0	30.5
6	0	97.2	78.2	0	16.6	98.0	0	93.8	0

病例编号	染色体核型分析	qPCR	二代测序
病例编号	染色体核型分析	常见融合基因和单个基因	血液肿瘤突变基因	血液肿瘤全转录组
1	50~51，XX，add（3）（q21），?del（4）（q22）， ?+19，+mar1~3，inc[cp2]/46，XX[8]	WT1阳性	未检测到突变	未送检
2	46，XY[6]	WT1阳性	TET2突变型	未送检
3	46，XX[5]	WT1阳性	未检测到突变	未送检
4	46，XY[20]	WT1阳性	未检测到突变	未送检
5	46，XY，inv（12）（p13q21）[3]/46，XY[17]	阴性	未检测到突变	NUP98-KDM5A阳性
6	46，X，-Y，+3，add（16）（q12-13）[4]/47， idem，+mar[4]/46，XY[12]	WT1阳性	未检测到突变	CBFA2T3-GLIS2阳性