Researchers at the University of Washington School of Medicine in the United States have introduced a novel blood test for diagnosing leukemia by detecting the fusion of the KMT2A gene with specific partner genes. The findings were published in the Journal of Molecular Diagnostics.
Leukemia comprises a group of blood cancers characterized by the presence of many abnormal white blood cells circulating in the bloodstream. These malformed cells fail to defend the body against infections and, over time, crowd out healthy blood cells, compromising the function of tissues and organs. In recent work, American scientists describe a new blood test that improves the accuracy of leukemia diagnosis. The test hinges on a distinctive molecular marker created when KMT2A fuses with AF9, AF6, AF4, ELL, or ENL.
Gene fusion is a type of chromosomal rearrangement where segments from two different genes join together. Such rearrangements can arise from structural changes at the DNA or RNA level and are known to play a key role in cancer development. Fusion genes can drive tumor growth by producing abnormally active proteins.
The new assay identifies fusions between KMT2A and AF9, AF6, AF4, ELL, or ENL by partitioning DNA molecules into microfluidic droplets. When fusion transcripts are present, carefully designed primers and probes generate a positive signal, enabling precise detection.
The researchers note that this approach fills a gap in current methods for identifying oncogenic fusions and enhances the overall efficiency of leukemia diagnosis. In addition, the method is scalable, suggesting that with refinement it could be adapted to detect other disease-related gene fusions and broaden the scope of molecular diagnostics.
Previous work has highlighted the ongoing search for alternatives to opioid-based therapies in cancer care, underscoring the broader relevance of advances in targeted molecular testing for improving patient outcomes.