Droplet digital PCR for the detection of second-generation tyrosine kinase inhibitor-resistant BCR::ABL1 kinase domain mutations in chronic myeloid leukemia View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2022-07-30

AUTHORS

Simona Soverini, Sara De Santis, Margherita Martelli, Cecilia Monaldi, Fausto Castagnetti, Gabriele Gugliotta, Cristina Papayannidis, Manuela Mancini, Samantha Bruno, Claudia Venturi, Katerina Machova Polakova, Thomas Ernst, Dianna Maar, Adam Corner, Michele Cavo

ABSTRACT

One of the indications for BCR::ABL1 mutation testing in chronic myeloid leukemia (CML) is when tyrosine kinase inhibitor therapy (TKI) needs to be changed for unsatisfactory response. In this study, we evaluated a droplet digital PCR (ddPCR)-based multiplex strategy for the detection and quantitation of transcripts harbouring mutations conferring resistance to second-generation TKIs (2GTKIs). Parallel quantitation of e13a2, e14a2 and e1a2 BCR::ABL1 fusion transcripts enables to express results as percentage of mutation positive- over total BCR::ABL1 transcripts. We determined the limit of blank in 60 mutation-negative samples. Accuracy was demonstrated by further analysis of 48 samples already studied by next generation sequencing (NGS). Mutations could be called down to 0.5% and across 3-logs of BCR::ABL1 levels. Retrospective review of BCR::ABL1 NGS results in 513 consecutive CML patients with non-optimal response to first- or second-line TKI therapy suggested that a ddPCR-based approach targeted against 2GTKI-resistant mutations would score samples as mutation-negative in 22% of patients with warning response to imatinib but only in 6% of patients with warning response to 2GTKIs. We conclude ddPCR represents an attractive method for easy, accurate and rapid screening for 2GTKI-resistant mutations impacting on TKI selection, although ddPCR cannot identify compound mutations. More... »

PAGES

2250-2260

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41375-022-01660-8

DOI

http://dx.doi.org/10.1038/s41375-022-01660-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1149868676

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/35908105


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13 schema:description One of the indications for BCR::ABL1 mutation testing in chronic myeloid leukemia (CML) is when tyrosine kinase inhibitor therapy (TKI) needs to be changed for unsatisfactory response. In this study, we evaluated a droplet digital PCR (ddPCR)-based multiplex strategy for the detection and quantitation of transcripts harbouring mutations conferring resistance to second-generation TKIs (2GTKIs). Parallel quantitation of e13a2, e14a2 and e1a2 BCR::ABL1 fusion transcripts enables to express results as percentage of mutation positive- over total BCR::ABL1 transcripts. We determined the limit of blank in 60 mutation-negative samples. Accuracy was demonstrated by further analysis of 48 samples already studied by next generation sequencing (NGS). Mutations could be called down to 0.5% and across 3-logs of BCR::ABL1 levels. Retrospective review of BCR::ABL1 NGS results in 513 consecutive CML patients with non-optimal response to first- or second-line TKI therapy suggested that a ddPCR-based approach targeted against 2GTKI-resistant mutations would score samples as mutation-negative in 22% of patients with warning response to imatinib but only in 6% of patients with warning response to 2GTKIs. We conclude ddPCR represents an attractive method for easy, accurate and rapid screening for 2GTKI-resistant mutations impacting on TKI selection, although ddPCR cannot identify compound mutations.
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19 schema:keywords CML patients
20 Further analysis
21 PCR
22 TKI selection
23 TKI therapy
24 accuracy
25 analysis
26 approach
27 attractive method
28 chronic myeloid leukemia
29 compound mutations
30 consecutive CML patients
31 ddPCR
32 detection
33 digital PCR
34 domain mutations
35 droplet digital PCR
36 fusion transcripts
37 generation sequencing
38 indications
39 inhibitor therapy
40 kinase
41 kinase domain mutations
42 kinase inhibitor therapy
43 leukemia
44 levels
45 limit
46 method
47 multiplex strategy
48 mutation testing
49 mutation-negative samples
50 mutations
51 myeloid leukemia
52 next-generation sequencing
53 non-optimal response
54 parallel quantitation
55 patients
56 percentage
57 percentage of mutations
58 quantitation
59 quantitation of transcripts
60 rapid screening
61 resistance
62 response
63 results
64 retrospective review
65 review
66 samples
67 screening
68 second-generation tyrosine kinase
69 second-generation tyrosine kinase inhibitor therapy
70 second-line TKI therapy
71 selection
72 sequencing
73 strategies
74 study
75 testing
76 therapy
77 transcripts
78 tyrosine kinase
79 tyrosine kinase inhibitor therapy
80 unsatisfactory response
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