digitalMLPA as a Valuable Tool in Adult ALL Risk Stratification
Exciting new data presented at the XIX Congress of the Italian Society of Experimental Hematology (Florence, March 2026) from a study by Chiara Salvesi et al. highlight the clinical utility of the NXtec D007 Acute Lymphoblastic Leukemia digitalMLPA assay also in adult acute lymphoblastic leukemia (ALL). Click here to read the abstract.
In a large study of over 190 adult ALL cases, the NXtec D007 Acute Lymphoblastic Leukemia assay delivered high‑resolution copy number and ploidy profiling, detecting clinically relevant alterations in 86% of patients, including cases with non‑informative conventional karyotypes. The assay reliably identified established high‑risk lesions, such as IKZF1 deletions and IKZF1plus profiles, as well as therapeutically relevant co‑deletions including MTAP/CDKN2A/B.
The study also demonstrated the assay’s ability to uncover recurrent focal deletions with biological impact, including a newly highlighted PAX5–ZCCHC7 deletion shown to generate fusion transcripts and persist at relapse. Analysis alongside RNA‑sequencing showed that digitalMLPA‑detected copy number alterations provide information that is complementary to fusion transcript detection.
An earlier study already highlighted the utility of NXtec D007 Acute Lymphoblastic Leukemia in pediatric ALL cases. These new results reinforce NXtec D007 Acute Lymphoblastic Leukemia as a robust, scalable solution for comprehensive CNA assessment in adult ALL, paving the way for better risk stratification and personalized care in the future. Ongoing methodological refinements aim to further strengthen accurate aneuploidy detection in complex karyotypes.
Key features of NXtec D007 Acute Lymphoblastic Leukemia:
- High-resolution coverage of 73 ALL-related genes and 8 regions including IKZF1, ERG, PAX5, iAMP21, PAR1 region, and many more.
- Includes 250 probes across the genome for gross copy number detection.
- Displays a high dynamic range for CNA detection.
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