RNA Testing Uncovers Hidden Gene Fusions in AML
November 14, 2025
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3 min
Research from the University of Michigan has demonstrated that integrating an RNA-based gene fusion assay into standard myeloid next-generation sequencing can uncover critical mutations in acute myeloid leukemia (AML) that traditional cytogenetic methods often miss. By analyzing over 600 AML cases, the study identified 14.8% of samples with gene fusions, including 4% that were cryptic and undetectable via karyotyping. These findings underscore the approach's potential to enhance diagnostic accuracy and optimize treatment strategies in AML, as recognized by contemporary hematopathology frameworks.
1. RNA-based fusion assay enhances NGS in leukemia diagnostics. 2. Found gene fusions in 14.8% of AML cases. 3. 4% of fusions were cryptic, undetected by karyotyping. 4. Traditional cytogenetics can delay diagnosis. 5. Study led by Corey Post, MD at the University of Michigan. 6. Supports WHO and ICC AML classification frameworks. 7. Critical for accurate diagnosis and treatment planning. 8. Highlights the importance of RNA testing in hematopathology.
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