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Abstract：
OBJECTIVE: Myelodysplastic syndromes (MDS) are clinically heterogeneous hematological malignancies with an increased risk of transformation to acute myeloid leukemia, emphasizing the importance of identifying new diagnostic and prognostic markers. This study sought to investigate the predictive ability of all-trans retinoic acid (ATRA)-dependent nuclear transcription factors RARα and PPARβ/δ gene expression in MDS patients.
METHODS: Peripheral blood specimens were collected from 49 MDS patients and 15 healthy volunteers. The specimens were further separated in Ficoll density gradient to obtain the mononuclear cells fractions. Gene expression analysis was carried out using quantitative real-time polymerase chain reaction (qRT-PCR) technique.
RESULTS: In the mononuclear cell fractions of MDS patients, RARα expression was increased (p<0.05) and PPARβ/δ expression was decreased (p<0.01) compared to healthy volunteers. When RARα and PPARβ/δ expression was compared in groups of MDS patients with different risks of disease progression, no statistically significant difference was found for RARα expression, while PPARβ/δ expression was significantly lower in the high-risk group of patients compared to the low-risk group (p<0.05). The expression of RARα was significantly associated with overall survival (p<0.05). ROC analysis showed that the expression of PPARβ/δ, rather than RARα expression, could have potential diagnostic value for MDS patients (AUC=0.75, p=0.003 and AUC=0.65, p=0.081, respectively).
CONCLUSIONS: RARα and PPARβ/δ genes are putative biomarkers that may be associated with the diagnosis and prognosis of MDS.
METHODS: Peripheral blood specimens were collected from 49 MDS patients and 15 healthy volunteers. The specimens were further separated in Ficoll density gradient to obtain the mononuclear cells fractions. Gene expression analysis was carried out using quantitative real-time polymerase chain reaction (qRT-PCR) technique.
RESULTS: In the mononuclear cell fractions of MDS patients, RARα expression was increased (p<0.05) and PPARβ/δ expression was decreased (p<0.01) compared to healthy volunteers. When RARα and PPARβ/δ expression was compared in groups of MDS patients with different risks of disease progression, no statistically significant difference was found for RARα expression, while PPARβ/δ expression was significantly lower in the high-risk group of patients compared to the low-risk group (p<0.05). The expression of RARα was significantly associated with overall survival (p<0.05). ROC analysis showed that the expression of PPARβ/δ, rather than RARα expression, could have potential diagnostic value for MDS patients (AUC=0.75, p=0.003 and AUC=0.65, p=0.081, respectively).
CONCLUSIONS: RARα and PPARβ/δ genes are putative biomarkers that may be associated with the diagnosis and prognosis of MDS.
摘要：
目的：骨髓增生异常综合征（MDS）是临床上异质性的血液系统恶性肿瘤，转化为急性髓细胞性白血病的风险增加，强调识别新的诊断和预后标志物的重要性。本研究旨在研究MDS患者全反式维甲酸（ATRA）依赖性核转录因子RARα和PPARβ/δ基因表达的预测能力。
方法：收集49例MDS患者和15例健康志愿者的外周血标本。在Ficoll密度梯度中进一步分离样本以获得单核细胞级分。使用定量实时聚合酶链反应(qRT-PCR)技术进行基因表达分析。
结果：在MDS患者的单核细胞部分中，与健康志愿者相比,RARα表达增加(p<0.05),PPARβ/δ表达降低(p<0.01)。当RARα和PPARβ/δ表达在不同疾病进展风险的MDS患者组中进行比较时，RARα表达无统计学差异，而PPARβ/δ表达在高危组患者中明显低于低危组(p<0.05)。RARα的表达与总生存期显著相关(p<0.05)。ROC分析显示PPARβ/δ的表达,而不是RARα表达，可能对MDS患者具有潜在的诊断价值（AUC=0.75，p=0.003和AUC=0.65，p=0.081）。
结论：RARα和PPARβ/δ基因是推测的生物标志物，可能与MDS的诊断和预后有关。
方法：收集49例MDS患者和15例健康志愿者的外周血标本。在Ficoll密度梯度中进一步分离样本以获得单核细胞级分。使用定量实时聚合酶链反应(qRT-PCR)技术进行基因表达分析。
结果：在MDS患者的单核细胞部分中，与健康志愿者相比,RARα表达增加(p<0.05),PPARβ/δ表达降低(p<0.01)。当RARα和PPARβ/δ表达在不同疾病进展风险的MDS患者组中进行比较时，RARα表达无统计学差异，而PPARβ/δ表达在高危组患者中明显低于低危组(p<0.05)。RARα的表达与总生存期显著相关(p<0.05)。ROC分析显示PPARβ/δ的表达,而不是RARα表达，可能对MDS患者具有潜在的诊断价值（AUC=0.75，p=0.003和AUC=0.65，p=0.081）。
结论：RARα和PPARβ/δ基因是推测的生物标志物，可能与MDS的诊断和预后有关。
