Hematology · 3 h ago
Combined genomic testing classifies most adult BCR::ABL1-negative B-ALL cases
In a study of 100 adults enrolled in PETHEMA-LAL-19, optical genome mapping (OGM) plus targeted next-generation sequencing classified 84% of BCR::ABL1-negative B-ALL cases into defined genetic subtypes. The approach reduced the proportion of unclassified cases from 50% to 16%; some subtypes were also associated with differences in postinduction measurable residual disease (MRD).
- Combined OGM and targeted NGS classified 84% of cases.
- Unclassified cases decreased from 50% to 16%.
- BCR::ABL1-like subtype occurred in 26% of patients.
- MRD associations do not demonstrate improved clinical outcomes.
Adult B-cell precursor acute lymphoblastic leukemia (B-ALL) comprises multiple genetic subtypes, and standard testing can leave many cases unclassified. In this study, investigators evaluated optical genome mapping (OGM) combined with targeted next-generation sequencing (t-NGS) in 100 adults with BCR::ABL1-negative B-ALL enrolled in the PETHEMA-LAL-19 study, comparing the combined workflow with protocol genetic testing.
The combined approach classified 84% of patients into 15 subtypes, reducing the proportion categorized as B-other or unclassified from 50% to 16%. OGM identified BCR::ABL1-like B-ALL in 26% of cases. Postinduction MRD positivity was more frequent in this subtype than in other cases (72% vs 34%; P=.0011). t-NGS identified mutation-defined PAX5 subtypes, which were associated with MRD negativity (91% vs 51%; P=.012). IKZF1plus was more prevalent in BCR::ABL1-like disease (62% vs 12%), while PAX5 subtypes commonly had biallelic PAX5 events (92% vs 2%).
The findings support the potential of combining OGM and t-NGS to improve genetic classification. They do not establish effects on treatment choice or patient outcomes. The source is an abstract, and further evidence is needed to assess implementation in routine diagnostic workflows.
In practice
For adults with BCR::ABL1-negative B-ALL, combining optical genome mapping with targeted next-generation sequencing may identify genetic subtypes that routine protocol testing leaves unclassified. In this 100-patient cohort, the combined workflow classified 84% of cases and reduced the unclassified proportion to 16%; subtype groups also differed in postinduction MRD status. These findings support diagnostic potential but do not show that testing changes treatment decisions or improves outcomes, and the available source is an abstract without full-text implementation details.
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Blood Advances: Comprehensive genetic characterization of adult BCR :: ABL1 -negative B-ALL by optical genome mapping and targeted NGS ↗This is an automated AI-condensed summary that has not yet been reviewed by an editor. Always consult the full item at the original source.