Genetic characterization of pediatric B-cell acute lymphoblastic leukemia in Argentina uncovers molecular heterogeneity and novel variants.

ABSTRACT:

Introduction

Acute lymphoblastic leukemia is the most common childhood cancer, yet its diagnosis and risk classification remain incomplete in many regions due to limited access to molecular studies.

Methods

We present the first comprehensive genetic and molecular characterization of childhood B-cell Acute lymphoblastic leukemia in Argentina using whole-transcriptome sequencing of diagnostic bone marrow samples from 32 patients enrolled in the international clinical protocol ALLIC-BFM-2009.

Results

By integrating publicly available bioinformatic tools, we achieved molecular subtyping in over 93% of cases, a significant increase from the 31% rate attained through traditional methods. Our analysis revealed a diverse landscape of known and novel genetic alterations, inclu

SUBMITTER: Sol Ruiz M 

PROVIDER: S-EPMC12665890 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature