多重PCR在伊拉克成年急性髓系白血病患者中基因重排的患病率。

IF 2.1 Q3 HEMATOLOGY Journal of Blood Medicine Pub Date : 2023-01-01 DOI:10.2147/JBM.S416825
Ali AlJabban, Jaffar Alalsaidissa
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引用次数: 0

摘要

急性髓系白血病(AML)的基因重排在患者分类中起着重要的作用,并为预后和治疗选择提供了有价值的信息。然而,在伊拉克,AML中基因重排的患病率和预后意义以前没有被检查过。方法:本研究利用多重反转录实时PCR (RT-qPCR)系统鉴定来自伊拉克的115名被诊断为新生AML的成年患者的基因重排。经血膜及流式细胞术确诊为急性髓性白血病。巴格达大学医学院伦理委员会批准了这项研究。结果:在这项研究中,66.1%的急性髓性白血病(AML)患者表现出明显的遗传异常。在这些异常中,最常见的是涉及KMT2A基因的重排,在19.9%的患者中观察到。风险分层分析显示,40%的患者为有利风险,4.3%为中等风险,25.2%为不良风险。在21.7%的病例中发现了一种称为核心结合因子(CBF) AML的亚型,其中84%的患者实现了完全缓解。在43%的急性早幼粒细胞白血病(APL)病例中发现NPM-RARA基因重排,与71%的完全缓解率相关。KMT2A重排患者占所有AML病例的19.9%,其中MLL-AF10重排最为常见,尽管只有1例KMT2A重排患者获得完全缓解。此外,对人口统计数据的分析显示,风险增加与高龄、合并症的存在和FAB分类(M0亚型)之间存在显著关联。结论:伊拉克新生AML患者的基因重排发生率高于全球趋势,突出了基因特征在风险评估和治疗决策中的重要性。
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Prevalence of Gene Rearrangement by Multiplex PCR in De Novo Acute Myeloid Leukemia in Adult Iraqi Patients.

Introduction: Gene rearrangements of acute myeloid leukemia (AML) play a significant role in categorizing patients and provide valuable information about prognosis and treatment choices. However, in Iraq, the prevalence and prognostic significance of gene rearrangements in AML have not been previously examined.

Methods: This study utilized a multiplex reverse transcription real-time PCR (RT-qPCR) system to identify gene rearrangements in a group of 115 adult patients from Iraq who had been diagnosed with De Novo AML. The diagnosis of AML was confirmed through blood film and flow cytometry. The ethical committee of the College of Medicine at the University of Baghdad provided approval for this research study.

Results: In this study, 66.1% of the patients diagnosed with acute myeloid leukemia (AML) exhibited distinct genetic abnormalities. Among these abnormalities, the most frequent was the rearrangement involving the KMT2A gene, observed in 19.9% of the patients. The risk stratification analysis revealed that 40% of the patients were classified as having a favorable risk, 4.3% as intermediate risk, and 25.2% as adverse risk. A subtype of AML known as core-binding factor (CBF) AML was identified in 21.7% of the cases, with 84% of these patients achieving complete remission. The NPM-RARA gene rearrangement, found in 43% of acute promyelocytic leukemia (APL) cases, was associated with a 71% complete remission rate. Among patients with KMT2A rearrangement, which accounted for 19.9% of all AML cases, the MLL-AF10 rearrangement was the most common, although only one patient with KMT2A rearrangement achieved complete remission. Furthermore, the analysis of demographic data revealed a significant association between increased risk and advanced age, presence of comorbidities, and FAB classification (M0 subtype).

Conclusion: The prevalence of genetic rearrangements in Iraqi De Novo AML patients is higher than the global trend, highlighting the importance of genetic characterization in risk assessment and treatment decisions.

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来源期刊
CiteScore
3.50
自引率
0.00%
发文量
94
审稿时长
16 weeks
期刊介绍: The Journal of Blood Medicine is an international, peer-reviewed, open access, online journal publishing laboratory, experimental and clinical aspects of all topics pertaining to blood based medicine including but not limited to: Transfusion Medicine (blood components, stem cell transplantation, apheresis, gene based therapeutics), Blood collection, Donor issues, Transmittable diseases, and Blood banking logistics, Immunohematology, Artificial and alternative blood based therapeutics, Hematology including disorders/pathology related to leukocytes/immunology, red cells, platelets and hemostasis, Biotechnology/nanotechnology of blood related medicine, Legal aspects of blood medicine, Historical perspectives. Original research, short reports, reviews, case reports and commentaries are invited.
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