Analyzing Transcriptomic Alternative Landscapes in Pediatric AML: Insights from Long-Read RNA Sequencing

Pediatric leukemia, particularly Acute Myeloid Leukemia (AML), exhibits significant molecular heterogeneity driven by the diversity of gene isoforms, alternative splicing events and the presence of fusion genes. Previous studies have highlighted the role of isoform disequilibrium in promoting oncogenesis, such as the RUNX1A/C imbalance, demonstrating the importance of isoform-specific expression patterns in disease pathogenesis. By employing long-read Nanopore RNA sequencing, we aim to accurately identify and quantify full-length transcripts and detect alternative splicing events that are often missed by traditional short-read sequencing methods. This approach allows us to better understand the intricate landscape of pediatric leukemia pathogenesis, its transcript diversity and regulatory mechanisms. Furthermore, we highlight the unique isoform profiles and splicing events in Down syndrome patients with myeloid (ML-DS) or transient abnormal myelopoiesis (TAM) potential role of chromosomal abnormalities in shaping the transcriptome. This comprehensive profiling will provide insights into the molecular profiles of different leukemia subtypes and may uncover novel therapeutic targets

Publication History

Article published online:
09 May 2025