Molecular Testing in CML between Old and New Methods: Are We at a Turning Point?

Area of Science:

• Hematology
• Molecular Biology
• Oncology

Background:

• Minimal residual disease (MRD) and BCR-ABL1 kinase domain (KD) mutation testing are crucial for managing chronic myeloid leukemia (CML).
• Current gold standard methods include quantitative polymerase chain reaction (qPCR) and Sanger sequencing.
• Therapeutic decisions for CML patients rely on molecular response levels and mutation status.

Purpose of the Study:

• To critically review established and novel molecular monitoring technologies for CML.
• To assess the clinical utility of digital PCR (dPCR) and next-generation sequencing (NGS) in CML management.
• To discuss the future evolution of molecular monitoring in CML.

Main Methods:

• Review of real-time quantitative polymerase chain reaction (RQ-qPCR) and Sanger sequencing.
• Evaluation of digital PCR (dPCR) and next-generation sequencing (NGS) technologies.
• Analysis of recent studies on the clinical value of dPCR and NGS for CML.

Main Results:

• RQ-qPCR and Sanger sequencing are current standards for MRD and mutation testing, respectively.
• dPCR and NGS are emerging technologies with potential for enhanced sensitivity and comprehensive mutation profiling.
• Published studies suggest dPCR and NGS can provide valuable clinical information for CML treatment.

Conclusions:

• Novel technologies like dPCR and NGS show promise in refining CML patient management.
• These advanced methods may offer superior sensitivity and broader mutation detection compared to current standards.
• The integration of dPCR and NGS into routine CML care is anticipated to improve therapeutic strategies and patient outcomes.