Molecular screening and the clinical impacts of BCR‑ABL KD mutations in patients with imatinib‑resistant chronic myeloid leukemia

Koçkan, Betül; Toptaş, Tayfur; Atagündüz, Işık Kaygusuz; Tuğlular, Ayşe Tülin; Özer, Ayşe; Akkiprik, Mustafa

doi:10.3892/ol.2017.7606

Cited by 4 publications

(2 citation statements)

References 31 publications

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“…It can be used to discern between compound mutations or the presence of different subclones in case of multiple mutation findings 11 , 12 . Other techniques with similar sensitivity have served to confirm mutations in BCR::ABL1 such as digital PCR (dPCR) and allele-specific oligonucleotides-PCR (ASO-PCR) 13 , 14 .…”

Section: Introductionmentioning

confidence: 99%

Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA

Sánchez

Dorado

Ruíz-Heredia³

et al. 2022

Sci Rep

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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.

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Section: Introductionmentioning

confidence: 99%

Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA

Sánchez

Dorado

Ruíz-Heredia³

et al. 2022

Sci Rep

View full text Add to dashboard Cite

show abstract

“…It can be used to discern between compound mutations or the presence of different subclones in case of multiple mutation ndings 11,12 . Other techniques with similar sensitivity have served to con rm mutations in BCR-ABL1 such as digital PCR (dPCR) and allelespeci c oligonucleotides-PCR (ASO-PCR) 13,14 .…”

Section: Introductionmentioning

confidence: 99%

Detection of Kinase Domain Mutations in BCR-ABL1 Leukemia by Ultra-deep Sequencing of Genomic DNA

Sánchez

Dorado²,

Ruíz-Heredia³

et al. 2022

Preprint

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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 10 − 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-ABL1IS < 1%. In conclusion, we were able to detect KD ABL1 mutations with a 10− 4 sensitivity by NGS using DNA as starting material even in patients with low levels of disease.

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A customized mass array panel for BCR::ABL1 tyrosine kinase domain mutation screening in chronic myeloid leukemia

Limsuwanachot¹,

Rerkamnuaychoke²,

Niparuck³

et al. 2023

Journal of Mass Spectrometry and Advances in the Clinical Lab

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Molecular screening and the clinical impacts of BCR‑ABL KD mutations in patients with imatinib‑resistant chronic myeloid leukemia

Cited by 4 publications

References 31 publications

Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA

Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA

Detection of Kinase Domain Mutations in BCR-ABL1 Leukemia by Ultra-deep Sequencing of Genomic DNA

A customized mass array panel for BCR::ABL1 tyrosine kinase domain mutation screening in chronic myeloid leukemia

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