Measurable residual disease analysis in paediatric acute lymphoblastic leukaemia patients with ABL-class fusions

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F22%3A10444197" target="_blank" >RIV/00216208:11130/22:10444197 - isvavai.cz</a>

Alternative codes found

RIV/00064203:_____/22:10444197

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=YE7KIi2A5R" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=YE7KIi2A5R</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/s41416-022-01806-6" target="_blank" >10.1038/s41416-022-01806-6</a>

Result language

angličtina

Original language name

Measurable residual disease analysis in paediatric acute lymphoblastic leukaemia patients with ABL-class fusions

Original language description

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 &lt; 0.0001) and Ig/TCR and IKZF1-deletion results (9 patients, n = 143 samples, r2 = 0.9661, P &lt; 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 &lt; 0.0001) and IKZF1-deletion results were closer to Ig/TCR (25 patients, n = 176, r2 = 0.8631, P &lt; 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.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30205 - Hematology

Project

<a href="/en/project/NU21-03-00128" target="_blank" >NU21-03-00128: BCR-ABL1-positive leukaemia - clinical and biological issues</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2022

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

British Journal of Cancer

ISSN

0007-0920

e-ISSN

1532-1827

Volume of the periodical

127

Issue of the periodical within the volume

5

Country of publishing house

GB - UNITED KINGDOM

Number of pages

8

Pages from-to

908-915

UT code for WoS article

000804526100002

EID of the result in the Scopus database

2-s2.0-85131310810