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Development of an inverse-PCR approach for characterization of the major BCR-ABL1 breakpoint sequences on genomic DNA: proof of concept

Development of an inverse-PCR approach for characterization of the major BCR-ABL1 breakpoint... To the Editor,Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm characterized by the presence of the Philadelphia chromosome, which contains the BCR-ABL1 fusion gene. The international conventional standardized method for routine monitoring of CML patients under tyrosine kinase inhibitor therapy is based on real-time quantitative reverse transcription-PCR (qRT-PCR) of BCR-ABL1 [1]. Achieving a deep molecular response (DMR, BCR-ABL1 ≤0.01% IS) by qRT-PCR [2], is associated with superior progression-free survival and overall survival [3]. However, the evidence of persistent leukemia clones in patients with CML who maintain a deep molecular response after treatment discontinuation suggested the utility of using genomic BCR-ABL1 (gBCR-ABL1) as a useful complementary substrate to evaluate minimal residual disease (MRD) [4], [5], [6].In this study, an alternative approach to characterize the gBCR-ABL1 breakpoint sequences at the genomic DNA level (gDNA) based on inverse PCR (iPCR) (Figure 1A) was developed and consistently applied in seven cases (Figure 1B and Supplementary Figure 1). The case-specific sequence information described in this report is indispensable for establishing any BCR-ABL1 quantification approach at the gDNA level.Figure 1:Inverse-PCR (iPCR) approach to characterize the BCR-ABL1 DNA breakpoint junctions.(A) Rationale of the practical approach. BCR-GL and ABL1-GL represent germline (non-rearranged) Chr22 and Chr9, while BCR-ABL1 represents the Philadelphia chromosome. Circularized Bcl-I fragments http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Chemistry and Laboratory Medicine (CCLM) de Gruyter

Development of an inverse-PCR approach for characterization of the major BCR-ABL1 breakpoint sequences on genomic DNA: proof of concept

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Publisher
de Gruyter
Copyright
© 2021 Walter de Gruyter GmbH, Berlin/Boston
ISSN
1437-4331
eISSN
1437-4331
DOI
10.1515/cclm-2020-1482
Publisher site
See Article on Publisher Site

Abstract

To the Editor,Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm characterized by the presence of the Philadelphia chromosome, which contains the BCR-ABL1 fusion gene. The international conventional standardized method for routine monitoring of CML patients under tyrosine kinase inhibitor therapy is based on real-time quantitative reverse transcription-PCR (qRT-PCR) of BCR-ABL1 [1]. Achieving a deep molecular response (DMR, BCR-ABL1 ≤0.01% IS) by qRT-PCR [2], is associated with superior progression-free survival and overall survival [3]. However, the evidence of persistent leukemia clones in patients with CML who maintain a deep molecular response after treatment discontinuation suggested the utility of using genomic BCR-ABL1 (gBCR-ABL1) as a useful complementary substrate to evaluate minimal residual disease (MRD) [4], [5], [6].In this study, an alternative approach to characterize the gBCR-ABL1 breakpoint sequences at the genomic DNA level (gDNA) based on inverse PCR (iPCR) (Figure 1A) was developed and consistently applied in seven cases (Figure 1B and Supplementary Figure 1). The case-specific sequence information described in this report is indispensable for establishing any BCR-ABL1 quantification approach at the gDNA level.Figure 1:Inverse-PCR (iPCR) approach to characterize the BCR-ABL1 DNA breakpoint junctions.(A) Rationale of the practical approach. BCR-GL and ABL1-GL represent germline (non-rearranged) Chr22 and Chr9, while BCR-ABL1 represents the Philadelphia chromosome. Circularized Bcl-I fragments

Journal

Clinical Chemistry and Laboratory Medicine (CCLM) – de Gruyter

Published: Nov 25, 2021

Keywords: chronic myeloid leukemia; DNA breakpoint junction; genomic BCR-ABL1; inverse-PCR

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