- RNA-based fusion testing found hidden AML-defining rearrangements missed by standard cytogenetics.
- Among 601 AML cases, 14.8% had gene fusions detected by the enhanced panel.
- Twenty-three fusions (≈4% of AML) were cytogenetically cryptic.
- Cryptic findings included NUP98 (12 cases) and KMT2A (6 cases) rearrangements.
- Additional undetected fusions included PML::RARA, CBFB::MYH11, DEK::NUP214, KAT6A::CREBBP, and NPM1::MLF1.
- RNA testing resolved uncertain or unavailable cytogenetic results in five more cases.
- Researchers recommended routine inclusion of RNA-based fusion detection in AML workups.
RNA Testing Uncovers Hidden Gene Fusions in AML
Conexiant
November 14, 2025