França Gilmar de Andrade, Nardinelli Luciana, Giorgi Ricardo Rodrigues, Pagliarini Thiago, Guimarães Baiocchi Otávio César Carvalho, Velloso Elvira Deolinda Rodrigues Pereira, Jr Wellington Fernandes da Silva, Magalhães Rego Eduardo, Bendit Israel
Department of Hematology, Transfusion and Cell Therapy, University of Sao Paulo Medical School (HCFMUSP), Sao Paulo, SP, Brazil; Laboratory of Medical Investigation in Pathogenesis and targeted therapy in Onco-Immuno-Hematology (LIM/31), Department of Hematology, Hospital das Clínicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.
Laboratory of Medical Investigation in Pathogenesis and targeted therapy in Onco-Immuno-Hematology (LIM/31), Department of Hematology, Hospital das Clínicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil.
Hematol Transfus Cell Ther. 2025 Apr-Jun;47(2):103759. doi: 10.1016/j.htct.2025.103759. Epub 2025 May 7.
This study aimed to determine the frequency of genetic alterations as deletions and duplications in cytochrome P450 (CYP450) and glutathione S-transferases (GST) genes, as well as to investigate whether there is a relationship between these alterations and neutrophilic hematologic recovery in adult patients diagnosed with acute myeloid leukemia.
DNA samples from 70 patients diagnosed with acute myeloid leukemia were evaluated using the Multiplex Ligation-dependent Probe Amplification technique. The presence or absence of polymorphisms was compared regarding the time to neutrophilic recovery (neutrophil count ≥1.0 × 10/L) using Kaplan-Meier curves, with the comparison between the curves being performed using the non-parametric log-rank test.
The median age of the participants was 57 years, with a higher proportion of females (57.2%) and white individuals (61.4%)'. A total of 76 polymorphisms (CYP450 + GST) were identified, comprising 38 deletions and 38 duplications. Kaplan-Meier curves revealed that the neutrophilic recovery time was longer for the group with polymorphisms (p-value = 0.0056).
The study demonstrated that CYP450 and GST genes are polymorphic, and these polymorphisms may lead to longer neutrophilic recovery after induction treatment of acute myeloid leukemia remission.
本研究旨在确定细胞色素P450（CYP450）和谷胱甘肽S-转移酶（GST）基因中缺失和重复等基因改变的频率，并调查这些改变与诊断为急性髓系白血病的成年患者中性粒细胞血液学恢复之间是否存在关联。
使用多重连接依赖探针扩增技术评估70例诊断为急性髓系白血病患者的DNA样本。使用Kaplan-Meier曲线比较中性粒细胞恢复时间（中性粒细胞计数≥1.0×10⁹/L）时多态性的有无，曲线间的比较采用非参数对数秩检验。
参与者的中位年龄为57岁，女性（57.2%）和白人个体（61.4%）比例较高。共鉴定出76种多态性（CYP450 + GST），包括38种缺失和38种重复。Kaplan-Meier曲线显示，有多态性的组中性粒细胞恢复时间更长（p值 = 0.0056）。
该研究表明CYP450和GST基因具有多态性，这些多态性可能导致急性髓系白血病缓解诱导治疗后中性粒细胞恢复时间延长。
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