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Updated: Oct 9, 2026
Cell-of-Origin Discovery in Infant Leukemia through Integration of 3D Models and Patient Transcriptomic Data
Published on: August 21, 2026
Distribution of molecular subtypes in a Colombian cohort of patients with acute lymphoblastic leukemia using
Edward Perez-Arismendi1, Natalia Gomez-Lopera1, Juan Camilo Villada2
1Grupo de Investigación Genética Médica, Facultad de Medicina, Universidad de Antioquia, Medellín, Colombia.
Introduction:
Acute lymphoblastic leukemia (ALL) is a common pediatric malignancy and shows marked genetic heterogeneity. Transcriptomic profiling may improve molecular diagnosis and risk stratification, particularly in admixed Latin American populations.
Methods:
We characterized the transcriptomic landscape of pediatric ALL in 40 Colombian patients aged <20 years using whole-transcriptome RNA sequencing of diagnostic bone marrow or peripheral blood samples. Bioinformatic analyses enabled molecular subtype assignment, fusion detection, differential expression analysis, and variant calling.
Results:
The median age was 8 years, and 8 patients had measurable residual disease at the end of induction. The most frequent subtypes were ETV6::RUNX1 and Ph-like, each representing 15% of cases. Fusions, including MEF2D::HNRNPUL1 and SEPTIN9::ABL1, were identified. Differential expression analysis revealed 3,864 genes distinguishing ALL from non-leukemic controls, with enrichment of hematologic malignancy, B-cell differentiation, immune, and inflammatory pathways.
Conclusions:
Molecular classification refined conventional risk stratification in 10% of patients, supporting the potential clinical utility of transcriptomic profiling in pediatric ALL.
