RNA Testing Uncovers Hidden Gene Fusions in AML
November 14, 2025
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3 min
9 Key Takeaways
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1
RNA-based fusion assay enhances NGS in leukemia diagnostics.
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Found gene fusions in 1
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8% of AML cases.
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4% of fusions were cryptic, undetected by karyotyping.
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Traditional cytogenetics can delay diagnosis.
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Study led by Corey Post, MD at the University of Michigan.
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Supports WHO and ICC AML classification frameworks.
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Critical for accurate diagnosis and treatment planning.
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9
Highlights the importance of RNA testing in hematopathology.
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.
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