Transcriptomic Diversity of Pediatric Acute Myeloid Leukemia Genetic Drivers Correlates With Clinical Outcome and Expression of Stemness-Related Genes

儿童急性髓系白血病遗传驱动因素的转录组多样性与临床结果和干性相关基因的表达相关

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Abstract

BACKGROUND: Pediatric acute myeloid leukemia (pAML) is comprised of a diverse set of oncogenic drivers (ODs) that have been risk-stratified to inform prognosis and therapeutic decision-making. Despite proteomic, transcriptomic, genetic, and epigenetic characterization of the pAML landscape, questions still remain about why certain ODs have poorer prognoses than others. METHODS: We analyze a large pAML bulk-RNA dataset (n = 435) and organize ODs along an axis of transcriptomic diversity by calculating the Simpson Diversity Index (SDI) of individual ODs. RESULTS: When comparing patients with low diversity ODs to patients with high diversity ODs, we observe poorer overall survival (HR = 1.877, 95% CI: 1.377-2.558, p = 0.0002) among patients harboring high diversity ODs in addition to an enrichment of stemness-related genes. We observe poorer survival of patients with high diversity ODs even when comparing patients with similar transcriptomic profiles (HR = 3.443, 95% CI: 1.817-6.525, p = 0.0028). CONCLUSION: We identify a link between transcriptomic diversity, expression of stemness-related genes, and clinical outcome. Higher transcriptomic heterogeneity exhibited by high diversity ODs warrants further attention when identifying patients who can benefit from novel or high-intensity therapy.

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