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Title: | Measurable residual disease analysis in paediatric acute lymphoblastic leukaemia patients with ABL-class fusions | Authors: | Zuna, J. Trahair, T. N. Sutton, R. Venn, N. C. Huang, L. Hovorková, L. Muskovic, W. Wong, M. Law, T. Heatley, S. L. Khaw, S. L. Revesz, T. Dalla Pozza, L. Shaw, P. J. Fraser, C. Moore, Andrew Cross, S. Bendak, K. Norris, M. D. Henderson, M. J. White, D. L. Cowley, M. J. |
Issue Date: | 2022 | Source: | , 2022 | Journal: | British Journal of Cancer | Abstract: | Background: ABL-class fusions including NUP214-ABL1 and EBF1-PDGFRB occur in high risk acute lymphoblastic leukaemia (ALL) with gene expression patterns similar to BCR-ABL-positive ALL. Our aim was to evaluate new DNA-based measurable residual disease (MRD) tests detecting these fusions and IKZF1-deletions in comparison with conventional immunoglobulin/T-cell receptor (Ig/TCR) markers. Methods: Precise genomic breakpoints were defined from targeted or whole genome next generation sequencing for ABL-fusions and BCR-ABL1. Quantitative PCR assays were designed and used to re-measure MRD in remission bone marrow samples previously tested using Ig/TCR markers. All MRD testing complied with EuroMRD guidelines. Results: ABL-class patients had 46% 5year event-free survival and 79% 5year overall survival. All had sensitive fusion tests giving high concordance between Ig/TCR and ABL-class fusion results (21 patients, n = 257 samples, r2 = 0.9786, P < 0.0001) and Ig/TCR and IKZF1-deletion results (9 patients, n = 143 samples, r2 = 0.9661, P < 0.0001). In contrast, in BCR-ABL1 patients, Ig/TCR and BCR-ABL1 tests were discordant in 32% (40 patients, n = 346 samples, r2 = 0.4703, P < 0.0001) and IKZF1-deletion results were closer to Ig/TCR (25 patients, n = 176, r2 = 0.8631, P < 0.0001). Conclusions: MRD monitoring based on patient-specific assays detecting gene fusions or recurrent assays for IKZF1-deletions is feasible and provides good alternatives to Ig/TCR tests to monitor MRD in ABL-class ALL.L20175698782022-06-10 | DOI: | 10.1038/s41416-022-01806-6 | Resources: | https://www.embase.com/search/results?subaction=viewrecord&id=L2017569878&from=exporthttp://dx.doi.org/10.1038/s41416-022-01806-6 | | Keywords: | immunoglobulin;acute lymphoblastic leukemiaadult;article;bone marrow;cancer patient;cancer recurrence;cancer survival;controlled study;event free survival;female;gene deletion;gene fusion;genetic marker;high throughput sequencing;human;human tissue;major clinical study;male;minimal residual disease;overall survival;practice guideline;quantitative analysis;real time polymerase chain reaction;remission;Abelson kinase;BCR ABL protein;endogenous compound;Ikaros transcription factor;T lymphocyte receptor | Type: | Article |
Appears in Sites: | Children's Health Queensland Publications Queensland Health Publications |
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