AlJabban Ali, Alalsaidissa Jaffar
Department of Pathology, College of Medicine, University of Baghdad, Baghdad, Iraq.
J Blood Med. 2023 Aug 11;14:445-453. doi: 10.2147/JBM.S416825. eCollection 2023.
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.
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.
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).
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.
急性髓系白血病（AML）的基因重排在患者分类中起着重要作用，并为预后和治疗选择提供有价值的信息。然而，在伊拉克，此前尚未对AML中基因重排的患病率及其预后意义进行过研究。
本研究采用多重逆转录实时定量聚合酶链反应（RT-qPCR）系统，对115名来自伊拉克的成年初发AML患者进行基因重排检测。AML的诊断通过血涂片和流式细胞术得以确认。巴格达大学医学院伦理委员会批准了本研究。
在本研究中，66.1%被诊断为急性髓系白血病（AML）的患者表现出明显的基因异常。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%的患者被归类为低危，4.3%为中危，25.2%为高危。在21.7%的病例中鉴定出一种称为核心结合因子（CBF）AML的AML亚型，其中84%的患者实现完全缓解。在43%的急性早幼粒细胞白血病（APL）病例中发现的NPM-RARA基因重排与71%的完全缓解率相关。在占所有AML病例19.9%的KMT2A重排患者中，MLL-AF10重排最为常见，尽管只有一名KMT2A重排患者实现完全缓解。此外，对人口统计学数据的分析显示，风险增加与高龄、合并症的存在以及FAB分类（M0亚型）之间存在显著关联。
伊拉克初发AML患者中基因重排的患病率高于全球趋势，凸显了基因特征在风险评估和治疗决策中的重要性。
