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High DNA input and next-generation sequencing peripheral blood MRD detection in patients with BCP-ALL
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A retrospective analysis selected paired BM-PB samples from 69 patients with BCP-ALL where MRD was detected in the BM by conventional RT-qPCR but not in the PB.1 Samples were reanalyzed with heightened sensitivity using increased DNA input and amplicon-based NGS. Results from this analysis were published in the British Journal of Haematology by Bendig et al.1
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| Key learnings |
| In PB samples using high DNA input RT-qPCR, standard DNA input NGS, and high DNA input NGS, MRD was detected in 32%, 23%, and 48% of samples, respectively. |
| Considering all possible IGH markers improved NGS MRD detection in 52% of PB samples. |
| Despite improved detection in PB, MRD levels remained consistently low in PB compared with BM, indicating that PB monitoring alone may not fully replace BM analysis and relying on PB alone could delay early relapse detection. |
| Results from this analysis suggest that analysis of PB samples with high DNA input and NGS could be considered when BM samples are unavailable in patients with BCP-ALL. |
Abbreviations: BCP-ALL, B-cell precursor acute lymphoblastic leukemia; BM, bone marrow; IGH, immunoglobulin heavy chain; MRD, measurable residual disease; NGS, next-generation sequencing; PB, peripheral blood; RT-qPCR, real-time quantitative polymerase chain reaction.
- Bendig S, Bufe S, Kotrova M, et al. Next-generation sequencing and high DNA input identify previously missed measurable residual disease in peripheral blood of B-cell precursor acute lymphoblastic leukaemia. Br J Haematol. 2024. Online ahead of print. DOI: 10.1111/bjh.19834
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