Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA.
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
29 07 2022
29 07 2022
Historique:
received:
23
02
2022
accepted:
22
07
2022
entrez:
29
7
2022
pubmed:
30
7
2022
medline:
3
8
2022
Statut:
epublish
Résumé
The screening of the BCR::ABL1 kinase domain (KD) mutation has become a routine analysis in case of warning/failure for chronic myeloid leukemia (CML) and B-cell precursor acute lymphoblastic leukemia (ALL) Philadelphia (Ph)-positive patients. In this study, we present a novel DNA-based next-generation sequencing (NGS) methodology for KD ABL1 mutation detection and monitoring with a 1.0E-4 sensitivity. This approach was validated with a well-stablished RNA-based nested NGS method. The correlation of both techniques for the quantification of ABL1 mutations was high (Pearson r = 0.858, p < 0.001), offering DNA-DeepNGS a sensitivity of 92% and specificity of 82%. The clinical impact was studied in a cohort of 129 patients (n = 67 for CML and n = 62 for B-ALL patients). A total of 162 samples (n = 86 CML and n = 76 B-ALL) were studied. Of them, 27 out of 86 harbored mutations (6 in warning and 21 in failure) for CML, and 13 out of 76 (2 diagnostic and 11 relapse samples) did in B-ALL patients. In addition, in four cases were detected mutation despite BCR::ABL1 < 1%. In conclusion, we were able to detect KD ABL1 mutations with a 1.0E-4 sensitivity by NGS using DNA as starting material even in patients with low levels of disease.
Identifiants
pubmed: 35906470
doi: 10.1038/s41598-022-17271-3
pii: 10.1038/s41598-022-17271-3
pmc: PMC9338264
doi:
Substances chimiques
Protein Kinase Inhibitors
0
DNA
9007-49-2
Fusion Proteins, bcr-abl
EC 2.7.10.2
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
13057Informations de copyright
© 2022. The Author(s).
Références
J Hematol Oncol. 2019 Apr 23;12(1):39
pubmed: 31014376
Oncol Lett. 2018 Feb;15(2):2419-2424
pubmed: 29434953
Blood Cancer J. 2020 May 26;10(5):61
pubmed: 32457305
Leuk Res. 2014 Jan;38(1):10-20
pubmed: 24131888
Haematologica. 2013 Oct;98(10):1510-6
pubmed: 23716543
Blood. 2003 Jul 1;102(1):276-83
pubmed: 12623848
J Clin Oncol. 2005 Jun 20;23(18):4100-9
pubmed: 15867198
Clin Lymphoma Myeloma Leuk. 2015 Jun;15 Suppl:S120-8
pubmed: 26297264
Am J Hematol. 2012 Nov;87(11):E125-8
pubmed: 23044928
Leukemia. 2006 Apr;20(4):658-63
pubmed: 16467863
Br J Haematol. 2012 Nov;159(4):485-8
pubmed: 22966847
Mol Cytogenet. 2014 Nov 29;7(1):89
pubmed: 25621010
Br J Haematol. 2012 Oct;159(1):78-81
pubmed: 22823211
Eur J Cancer. 2014 Mar;50(4):793-800
pubmed: 24365090
Haematologica. 2011 Apr;96(4):552-7
pubmed: 21193419
Leukemia. 2016 Jul;30(7):1615-9
pubmed: 26867670
Leukemia. 2020 Apr;34(4):966-984
pubmed: 32127639
Expert Rev Anticancer Ther. 2014 Jun;14(6):723-40
pubmed: 24611626
Haematologica. 2019 Feb;104(2):288-296
pubmed: 30093399
Cancer Cell. 2019 Oct 14;36(4):431-443.e5
pubmed: 31543464
Leukemia. 2021 Aug;35(8):2419-2423
pubmed: 33772144
Br J Haematol. 2021 Apr;193(2):271-279
pubmed: 33403687
Nucleic Acids Res. 2021 Jan 8;49(D1):D884-D891
pubmed: 33137190
N Engl J Med. 2001 Apr 5;344(14):1038-42
pubmed: 11287973
J Clin Oncol. 2008 Oct 10;26(29):4806-13
pubmed: 18645191
Blood. 2020 Feb 20;135(8):534-541
pubmed: 31877211
N Engl J Med. 2003 Mar 13;348(11):994-1004
pubmed: 12637609
Blood. 2007 Jul 15;110(2):727-34
pubmed: 17405907
Drug Discov Today Technol. 2014 Mar;11:89-99
pubmed: 24847658
Lancet Haematol. 2019 May;6(5):e276-e284
pubmed: 31036317
Ann Hematol. 2017 Jul;96(7):1069-1075
pubmed: 28451802