Michael Svaton, Aneta Skotnicova, Leona Reznickova, Andrea Rennerova, Tatana Valova, Michaela Kotrova, Vincent H J van der Velden, Monika Brüggemann, Nikos Darzentas, Anton W Langerak, Jan Zuna, Jan Stary, Jan Trka, Eva Fronkova. Blood. 2022 October 18. doi.org/10.1182/blood.2022017003 IF: 25,476
MUDr. Michael Svatoň, Ph.D., CLIP, Klinika dětské hematologie a onkologie (CLIP) 2. LF UK a FN Motol
- NGS MRD evaluation in BCP ALL is highly concordant with qPCR while being less laborious and providing more specific results.
- Frontline NGS MRD evaluation can be used as an alternative to qPCR assays in future MRD-based ALL treatment protocols.
We compared minimal residual disease (MRD) levels evaluated by routinely used real time quantitative PCR (qPCR) patient-specific assays and by next generation sequencing (NGS) approach in 780 immunoglobulin/T-cell receptor (IG/TR) markers in 432 children with B-cell precursor acute lymphoblastic leukemia (ALL) treated on the AIEOP-BFM ALL 2009 protocol. Our aim was to compare the MRD-based risk stratification at the end of induction (EOI). The results were concordant in 639/780 (81.9%) of these markers, 37/780 (4.7%) markers were detected only by NGS. In 104/780 (13.3%) markers positive only by qPCR, a large fraction (23/104; 22.1%) was detected also by NGS, however, due to the presence of identical IG/TR rearrangements in unrelated samples, we classified those as nonspecific/falsely-positive. Risk group stratification based on the MRD results by qPCR and NGS at EOI was concordant in 76% of the patients, 19% of the patients would be assigned to a lower-risk group by NGS, largely due to the elimination of false-positive qPCR results, and 5% of patients would be assigned to a higher risk group by NGS. NGS MRD is highly concordant with qPCR while providing more specific results and can be an alternative in the frontline MRD evaluation in forthcoming MRD-based protocols.