ArticleJournal of cellular and molecular medicine2019
Large amplicon droplet digital PCR for DNA-based monitoring of pediatric chronic myeloid leukaemia.
Article in Journal of cellular and molecular medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 22 citations in OpenAlex.
- Limit of Blank Variability as a Determinant of Analytical Sensitivity in a DNA-Binding Dye-Based Digital Polymerase Chain Reaction for the Detection of Chlamydia pneumoniae.Analytical chemistry · 2026Article
- Rapid generation of homozygous fluorescent knock-in human cells using CRISPR-Cas9 genome editing and validation by automated imaging and digital PCR screening.Nature protocols · 2025Article
- Distinct pattern of genomic breakpoints in CML and BCR::ABL1-positive ALL: analysis of 971 patients.Molecular cancer · 2024Article
- Continuous therapy response references for BCR::ABL1 monitoring in pediatric chronic myeloid leukemia.Scientific reports · 2023Article
- Molecular characterization of TCF3::PBX1 chromosomal breakpoints in acute lymphoblastic leukemia and their use for measurable residual disease assessment.Scientific reports · 2023Article
- The Cytogenetic Landscape of Pediatric Chronic Myeloid Leukemia Diagnosed in Chronic Phase.Cancers · 2022Article
- Current and Emerging Applications of Droplet Digital PCR in Oncology: An Updated Review.Molecular diagnosis & therapy · 2022Review
- Definition, Epidemiology, Pathophysiology, and Essential Criteria for Diagnosis of Pediatric Chronic Myeloid Leukemia.Cancers · 2021Review
- Molecular Testing in CML between Old and New Methods: Are We at a Turning Point?Journal of clinical medicine · 2020Review
- Horn of plenty: Value of the international registry for pediatric chronic myeloid leukemia.World journal of clinical oncology · 2020Review
- Monitoring of Minimal Residual Disease (MRD) in Chronic Myeloid Leukemia: Recent Advances.Cancer management and research · 2020Review
- Large amplicon droplet digital PCR for DNA-based monitoring of pediatric chronic myeloid leukaemia.Journal of cellular and molecular medicine · 2019Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Quantification of tumour-specific molecular markers at the RNA and DNA level for treatment response monitoring is crucial for risk-adapted stratification and guidance of individualized therapy in leukaemia and other malignancies. Most pediatric leukaemias and solid tumours of mesenchymal origin are characterized by a relatively low mutation burden at the single nucleotide level and the presence of recurrent chromosomal translocations. The genomic fusion sites resulting from translocations are stable molecular tumour markers; however, repeat-rich DNA sequences flanking intronic breakpoints limit the design of high sensitivity PCR assays for minimal residual disease (MRD) monitoring. Here, we quantitatively evaluated the impact of repeat elements on assay selection and the feasibility of using extended amplicons (≤1330 bp) amplified by droplet digital PCR to monitor pediatric chronic myeloid leukaemia (CML). Molecular characterization of 178 genomic BCR-ABL1 fusion sites showed that 64% were located within sequence repeat elements, impeding optimal primer/probe design. Comparative quantification of DNA and RNA BCR-ABL1 copy numbers in 687 specimens from 55 pediatric patients revealed that their levels were highly correlated. The combination of droplet digital PCR, double quenched probes and extended amplicons represents a valuable tool for sensitive MRD assessment in CML and may be adapted to other translocation-positive tumours.
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