Advances in Diagnosis and Classification of B-ALL: Comparative Insights from Updated Guidelines - PubMed
3 hours ago
- #genomic diagnostics
- #leukemia prognosis
- #B-ALL classification
- Accurate molecular classification is critical for B-cell lymphoblastic leukemia (B-ALL) diagnosis, risk stratification, and treatment selection.
- A real-world reclassification of 1,015 B-ALL cases using WHO-HAEM5 and ICC guidelines significantly reduced unclassifiable cases from 41.9% (WHO-HAEM4R) to 15.9% and 11.9%, respectively.
- Integrative genomic strategies, including whole transcriptome sequencing and fusion detection, identified distinct clinical and prognostic features across new subtypes.
- Genomic classification was confirmed as an independent predictor of survival, with HLF-rearranged and MEF2D-rearranged B-ALL showing poor prognosis despite transplant interventions.
- Gene expression profiling resolved cryptic subtypes and uncovered diagnostic ambiguities, while identifying emerging high-risk groups like IDH1/2- and ZEB2 Q1072-mutated B-ALL.
- The study advocates for integrating high-throughput molecular diagnostics into routine B-ALL classification to guide precision treatment and future guideline revisions.