20 November 2023

Scientists have created a new test for multiple KMT2A-fusions in acute myeloid leukaemia (AML) to help guide tailored treatment.

The test highlights any residual disease present during treatment, the developers say. They say current methods are either not fully accurate, expensive, or difficult to implement.

Dr Grant Challen, of Washington University School of Medicine in St Louis, USA, and his team have explored a test using a molecular marker for KMT2A gene fusions. These mutations are particularly common in therapy-related AML, caused by chemotherapy or radiotherapy for other cancers.

These oncogenic fusions “are often disease-defining and present a unique marker of leukaemic cells that are not usually present in healthy cells,” says Dr Challen.

He adds that other diseases such as chronic myeloid leukaemia can already be tracked by a certain oncogenic fusion, “and sensitively detecting these fusions has revolutionised how it is treated”.

In the case of AML patients whose disease is driven by oncogenic fusions, “the KMT2A fusion is a molecular marker that can be leveraged for sensitive minimal residual disease detection”, he says.

“We therefore wanted to develop a platform for sensitive KMT2A fusion-detection to improve how we detect and treat this disease.”

Details of the work appeared in The Journal of Molecular Diagnostics. The team created a droplet digital PCR test to identify KMT2A fusions with the five most common fusion partners, representing 80% of all KMT2A fusions.

“We show that the assay does not produce false-positive signals in samples from healthy individuals,” reported Dr Challen.

“The assay is easily expanded to include additional oncogenic fusions. This has potential impact for treatment decision-making and assessing response to therapy.

“Knowing whether a treatment is working or not is critically important for decisions regarding when to escalate therapy or pursue haematopoietic stem cell transplant.”


Young AL, Davis HC, Challen GA. (2023) “Droplet Digital PCR for Oncogenic KMT2A Fusion Detection.” The Journal of Molecular Diagnostics, doi: 10.1016/j.jmoldx.2023.09.006

Link: https://www.jmdjournal.org/article/S1525-1578(23)00222-2/fulltext   

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