Home Medizin RNA-Sequenzanalyse zur Diagnose molekularer Subtypen bei pädiatrischer B-ALL möglich

RNA-Sequenzanalyse zur Diagnose molekularer Subtypen bei pädiatrischer B-ALL möglich

von NFI Redaktion

Acute lymphocytic leukemia (ALL) is the most common cancer in childhood, accounting for more than 30% of all cases in children. A pilot study in The Journal of Molecular Diagnostics, published by Elsevier, confirms the feasibility of implementing an RNA sequencing analysis workflow (RNA-Seq) for the clinical diagnosis of molecular subtypes in pediatric B-cell acute lymphoblastic leukemia (B-ALL). This promising and cost-effective global genome test for B-ALL could lead to more accurate diagnosis and targeted treatment options.

ALL comprises a constellation of different molecular subtypes, each with its own individual drug sensitivity pattern, treatment response, and even prognosis. Identifying specific subtypes is crucial in the current era of personalized medicine. However, this identification requires a range of profiling tools, making the process cumbersome and expensive.

The deputy lead investigator, Dr. Gordana Raca, MD, PhD, Department of Pathology and Laboratory Medicine, Children’s Hospital Los Angeles, explains: „The aim of the study was to eliminate the limitations of current standard-of-care tests for pediatric B-ALL, which cannot identify several recently discovered subtypes of the disease. We also wanted to harness the expression data generated by the enrichment-based RNA-Seq assay validated clinically in our laboratory for detecting oncogenic fusions in cancer to evaluate if additional data analyses, in addition to the fusion information, could help in determining the subtype classification in our B-ALL cases.“


Journal reference:

Hu, Z., et al. (2024). Transcriptome Sequencing Enables Comprehensive Genomic Characterization of B-Cell Acute Lymphoblastic Leukemia in Children in an Academic Clinical Laboratory. The Journal of Molecular Diagnostics. doi.org/10.1016/j.jmoldx.2023.09.013.

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