Figure 1.
Distinct gene expression profile and enrichment of stem cells signature identified in diagnostic MNCs from patients who failed to achieve EMR. (A) The workflow of our study with regard to the discovery process, including samples from patients with EMR failure (n = 13) vs EMR achievement (n = 83), as defined by BCR-ABL1 percentage at 3 months. (B) Volcano plot demonstrating the effect of log2 fold change (FC) on the x-axis vs −log10 P value on the y-axis. Red circles indicate significant genes (FDR P < .05 and log2 FC > 0.6) with increased gene expression in the EMR failure patient group. Green circles indicate significant genes (FDR P < .05 and log2 FC < −0.6) with decreased gene expression in the EMR failure patient group. (C) Heatmap demonstrating the distinct gene expression patterns based on all significant probes (n = 502; FDR P < .05 and log2 FC > |0.6|). Orange represents increased gene expression level, and blue represents decreased gene expression level. The heatmap was generated using the pheatmap package. (D) GSEA indicates enrichment of stem cell signaling, cell cycle, and immune response/T lymphocytes in the EMR failure patient samples (BCR-ABL1 >10% IS at 3 months) compared with the EMR achievement patient samples (BCR-ABL1 ≤10% IS at 3 months). Blue bars represent cell cycle–related data sets. Red bars represent stem cell–related data sets. Green bars represent immune response/T lymphocyte–related signatures. Regarding normalized enrichment score (NES), positive score indicates positive enrichment in samples from patients who failed to achieve EMR, and negative score indicates enrichment in samples from patients who achieved EMR. (E) Boxplot displaying the differential blast percentage counts at diagnosis, indicating a significantly higher percentage in the samples collected from patients who failed to achieve EMR. Only 91 patients had differential blast percentage counts at diagnosis information available for analysis. (F) Boxplot displaying the lymphocyte percentage counts at diagnosis, indicating a significantly lower percentage in the EMR failure patient sample group. Only 94 patients had lymphocyte percentage counts at diagnosis information available for analysis. Statistical analysis was performed using the Mann-Whitney U test.