Programa de Doctorado, Posgrado en Ciencias Biológicas, Universidad Nacional Autónoma de México, Mexico City 04510, Mexico.
Laboratorio de Innovación en Medicina de Precisión Núcleo A, Instituto Nacional de Medicina Genómica, Mexico City 14610, Mexico.
Int J Mol Sci. 2024 Feb 1;25(3):1750. doi: 10.3390/ijms25031750.
Acute lymphoblastic leukemia (ALL) represents around 25% of adult acute leukemias. Despite the increasing improvement in the survival rate of ALL patients during the last decade, the heterogeneous clinical and molecular features of this malignancy still represent a major challenge for treatment and achieving better outcomes. To identify aberrantly expressed genes in bone marrow (BM) samples from adults with ALL, transcriptomic analysis was performed using Affymetrix Human Transcriptome Array 2.0 (HTA 2.0). Differentially expressed genes (DEGs) (±2-fold change, -value < 0.05, and FDR < 0.05) were detected using the Transcriptome Analysis Console. Gene Ontology (GO), Database for Annotation, Visualization, and Integrated Discovery (DAVID), and Ingenuity Pathway Analysis (IPA) were employed to identify gene function and define the enriched pathways of DEGs. The protein-protein interactions (PPIs) of DEGs were constructed. A total of 871 genes were differentially expressed, and , , , , and were the top five up-regulated genes. Meanwhile, the top five down-regulated genes were , , , , and . An association between , , and expression levels and the probability of relapse and death was observed. Regulation of the immune system, immune response, cellular response to stimulus, as well as apoptosis signaling, inflammation mediated by chemokines and cytokines, and T cell activation were among the most altered biological processes and pathways, respectively. Transcriptome analysis of ALL in adults reveals a group of genes consistently associated with hematological malignancies and underscores their relevance in the development of ALL in adults.
急性淋巴细胞白血病(ALL)占成人急性白血病的 25%左右。尽管在过去十年中 ALL 患者的生存率不断提高,但这种恶性肿瘤的异质性临床和分子特征仍然是治疗和实现更好疗效的主要挑战。为了鉴定成人 ALL 骨髓(BM)样本中异常表达的基因,使用 Affymetrix Human Transcriptome Array 2.0(HTA 2.0)进行了转录组分析。使用 Transcriptome Analysis Console 检测差异表达基因(DEGs)(±2 倍变化,-值 < 0.05, FDR < 0.05)。使用基因本体论(GO)、数据库注释、可视化和综合发现(DAVID)和 Ingenuity 通路分析(IPA)来识别基因功能和定义 DEGs 的富集通路。构建 DEGs 的蛋白质-蛋白质相互作用(PPI)网络。共有 871 个基因差异表达,上调基因中 、 、 、 和 排名前五;下调基因中 、 、 、 和 排名前五。观察到 、 、 和 表达水平与复发和死亡的概率之间存在关联。免疫系统调节、免疫反应、细胞对刺激的反应、以及细胞凋亡信号、趋化因子和细胞因子介导的炎症和 T 细胞激活等生物学过程和通路发生了显著改变。成人 ALL 的转录组分析揭示了一组与血液恶性肿瘤一致相关的基因,并强调了它们在成人 ALL 发展中的相关性。