急性髓系白血病伴嗜酸性粒细胞增多症（FAB AML-M4Eo）具有NPM1/DNMT3A/IDH2基因突变和t(5;12)（q31;p13）。

IF 0.7 4区医学 Q4 MEDICAL LABORATORY TECHNOLOGY Clinical laboratory Pub Date : 2025-01-01 DOI:10.7754/Clin.Lab.2024.240802

Xiuping Xu, Guojian Shen

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引用次数: 0

摘要

背景：AML- m4eo是一种以粒细胞和单核细胞前体细胞恶性增生伴嗜酸性粒细胞增多为特征的AML。患者表现为贫血、感染、出血、组织器官浸润。MICM分类使AML的分类更加准确，为AML的正确治疗和预后奠定了基础。方法：采用血常规和骨髓常规检测患者外周血和骨髓细胞增殖情况。采用AML 96基因检测和骨髓细胞遗传学检查确定基因突变和染色体异常的结果。结果：患者血常规示白细胞125 × 109/L，细胞28%。根据病史行骨髓活检。骨髓常规示成髓细胞12.0%，造血原细胞11.0%，嗜酸性细胞15%，提示AML-M4Eo。AML基因和细胞遗传学分析显示NPM1/ DNMT3A/IDH2基因突变和t(5;12)（q31;p13）。结论：结合病例和相关文献，探讨AML与NPM1/ DNMT3A/IDH2基因突变与t(5;12)（q31;p13）的关系及其在AML治疗和预后中的价值。

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Acute Myeloid Leukemia with Eosinophilia (FAB AML-M4Eo) having NPM1/DNMT3A/IDH2 Gene Mutations and t(5;12)(q31;p13).

Background: AML-M4Eo is a type of AML characterized by malignant proliferation of granulocyte and monocyte precursor cells accompanied by eosinophilia. Patients present as anemia, infection, bleeding, and tissue and organ infiltration. MICM classification makes the classification of AML more accurate and lays a foundation for the correct treatment and prognosis of AML.

Methods: Blood routine and bone marrow routine tests were used to detect the cell proliferation condition in peripheral blood and bone marrow of patients. AML 96 genes test and bone marrow cytogenetic examination were used to determine the results of gene mutations and chromosome abnormalities.

Results: Blood routine of the patient indicated a WBC of 125 × 109/L with 28% blasts. Bone marrow biopsy was performed based on the medical history. The bone marrow routine showed 12.0% myeloblasts, 11.0% promonocytes and 15% eosinophilic cells, indicating AML-M4Eo. AML gene and cytogenetic analysis showed NPM1/ DNMT3A/IDH2 gene mutations and t(5;12)(q31;p13).

Conclusions: Based on the case and relevant literatures, we explored the relationships between AML and NPM1/ DNMT3A/IDH2 gene mutations and t(5;12)(q31;p13), as well as their values in treatment and prognosis for AML.

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来源期刊

Clinical laboratory 医学-医学实验技术

CiteScore

1.50

自引率

0.00%

发文量

494

审稿时长

3 months

期刊介绍： Clinical Laboratory is an international fully peer-reviewed journal covering all aspects of laboratory medicine and transfusion medicine. In addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies. The journal publishes original articles, review articles, posters, short reports, case studies and letters to the editor dealing with 1) the scientific background, implementation and diagnostic significance of laboratory methods employed in hospitals, blood banks and physicians'' offices and with 2) scientific, administrative and clinical aspects of transfusion medicine and 3) in addition to transfusion medicine topics Clinical Laboratory represents submissions concerning tissue transplantation and hematopoietic, cellular and gene therapies.