Scientists from the University of Washington School of Medicine in the US have developed a new way to diagnose leukemia using a blood test based on detecting the fusion of the KMT2A gene with certain partners. results published In Journal of Molecular Diagnostics (JMD).
Leukemia is a group of blood cancers in which large numbers of abnormal leukocytes (white blood cells) enter the bloodstream. Such white blood cells cannot protect the body from pathogens. Over time, they eliminate healthy blood cells and accumulate in various tissues and organs, impairing their functions. American researchers have developed a new blood test that increases the effectiveness of diagnosing this disease. It is based on the discovery of a unique molecular marker that is a fusion of KMT2A and the genes AF9, AF6, AF4, ELL, ENL.
Gene fusion is a special type of chromosomal rearrangement in which regions of two different genes grow together. This may be the result of structural rearrangements at the DNA or RNA level. Gene fusion is known to play an important role in tumorigenesis. Such genes can promote tumor growth because they produce much more active abnormal proteins.
The new blood test detects gene fusions between KMT2A and AF9, AF6, AF4, ELL, ENL by separating DNA molecules into microfluidic droplets. In the presence of fusion transcripts, specific primers and probes (parts of the molecular biology method) give a positive signal.
The scientists noted that their development fills a gap in the methodology for identifying oncogenic fusions and also improves the efficiency of leukemia diagnosis. Moreover, the analysis is scalable. This means that, if refined, it could be used to identify fusions of other genes associated with disease risk.
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