Clinical characteristic analysis of ETP-ALL patients with POX positive rate>3%

doi:10.3969/j.issn.1673-8640.2025.01.004

Abstract

Abstract:

Early T-cell precursor acute lymphoblastic leukemia （ETP-ALL） with peroxidase（POX） positive rate>3% is rarely seen. The determination results of ETP-ALL with POX positive rate>3% from a case of Shanghai General Hospital of Shanghai Jiao Tong University School of Medicine were analyzed. The morphological result shows this may be mixed phenotype acute leukemia；the result of flow cytometry indicates ETP-ALL；next generation sequencing results show mutation of FBXW7（6.76%），IKZF1（7.53%），NOTCH1（8.12%），NRAS （8.26%），TCRβDβ-Jβ rearrangements；the analysis of chromosome karyotype is 46，XY，del（2）（p24），t（3；5）（q11；q11）/46，XY[17]. This study aims to improve the diagnostic and therapeutic ability of this disease.

Key words: Peroxidase, Early T-cell precursor acute lymphoblastic leukemia, Early T-cell precursor lymphocyte, Mixed phenotype leukemia, Peroxidase positive rate

CLC Number:

R730.43

WANG Hongling, CAI Yu, LIU Mengna, BAI Ping. Clinical characteristic analysis of ETP-ALL patients with POX positive rate>3%[J]. Laboratory Medicine, 2025, 40(1): 20-24.

Figures/Tables 3

References 17

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项目	初发	复发
细胞形态学	POX阴性，CD34、CD117、CD7、cCD3、CD4、CD43阳性，CD33部分阳性	POX 10%阳性，CD34、CD117、CD7、cCD3、CD33、CD13、CD38、CD4（dim）、CD71阳性，CD3、CD56、TdT部分阳性
免疫学	MPO、CD5、cCD22、CD19、CD3阴性	MPO、CD5、HLA-DR、CD8、CD2、CD1a、CD11c、TCRαβ、TCRγδ、TRBC1阴性
细胞遗传学	正常	46，XY，del（2）（p24），t（3；5）（q11；q11）/46，XY[17]
分子生物学	淋系常见突变基因NOTCH1、IKZF1、CDKN2A、CDKN2B阳性；髓系常见突变基因阴性	淋系常见突变基因NOTCH1、IKZF1、FBXW7、TCRβDβ-Jβ 克隆性基因重排阳性；髓系常见突变基因NRAS阳性

项目	初发	复发
细胞形态学	POX阴性，CD34、CD117、CD7、cCD3、CD4、CD43阳性，CD33部分阳性	POX 10%阳性，CD34、CD117、CD7、cCD3、CD33、CD13、CD38、CD4（dim）、CD71阳性，CD3、CD56、TdT部分阳性
免疫学	MPO、CD5、cCD22、CD19、CD3阴性	MPO、CD5、HLA-DR、CD8、CD2、CD1a、CD11c、TCRαβ、TCRγδ、TRBC1阴性
细胞遗传学	正常	46，XY，del（2）（p24），t（3；5）（q11；q11）/46，XY[17]
分子生物学	淋系常见突变基因NOTCH1、IKZF1、CDKN2A、CDKN2B阳性；髓系常见突变基因阴性	淋系常见突变基因NOTCH1、IKZF1、FBXW7、TCRβDβ-Jβ 克隆性基因重排阳性；髓系常见突变基因NRAS阳性