Chronic Myeloid Leukemia Coverage from Every Angle

Next-Generation Sequencing for Mutation Testing in CML: Position Paper

By: Cordi Craig
Posted: Thursday, March 12, 2020

For patients with chronic myeloid leukemia (CML) who do not achieve optimal responses to tyrosine kinase inhibitor (TKI) therapy, clinicians often determine BCR-ABL1 kinase domain mutation status using conventional Sanger sequencing. However, Sanger sequencing has limited sensitivity, and next-generation sequencing is becoming increasingly common. Simona Soverini, MS, PhD, of the University of Bologna, Italy, and colleagues published a position paper on next-generation sequencing, with the goal of informing clinicians and determining clinical and technical recommendations for mutation testing in the future. The study, published in the Journal of Hematology & Oncology, reported the appropriateness of clinical decisions regarding the use and performance characteristics as well as therapeutic changes that may be applied based on next-generation sequencing.

In May 2018, the research team assembled a panel of experts made up of Italian physicians and biologists for their expertise and experience in CML research and clinical practice. In November 2018, the panel gathered at a conference in Milan to discuss proposed issues and to generate a final statement on the use of next-generation sequencing.

Although the expert panel encouraged the use of next-generation sequencing, it did not require it in clinical practice, and “the advantage of next-generation sequencing–based treatment decision-making has not yet been formally demonstrated.”. However, the indications of next-generation sequencing based on available data and outlined in this article included for patients with a failure or warning response to TKI therapy, for those with advanced disease, and for those undergoing allogeneic stem cell transplant, among others.

“This will foster the interaction between molecular pathology centers and provide a stepping-stone towards a common [next-generation sequencing] language between different platforms and centers,” the researchers concluded.

For the full discussion of the panel’s findings and current recommendations, see the link below.

Disclosure: For full disclosures of the study authors, visit

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