Tandem Double Inversion Resolves the Structural Paradox Underlying Recurrent KAT6A::NCOA2 Fusion in Acute Myeloid Leukemia.
Jun Nagai, Shota Yoshida, Takanori Teshima et al.
✦ AI-curated · Sources linked
Case in brief
A case of acute myeloid leukemia (AML) presented with the rare KAT6A::NCOA2 fusion, typically associated with inv(8)(p11q13). Genomic profiling revealed an unexpected MTFR1::KAT6A rearrangement. Further analysis demonstrated that the fusion resulted from two adjacent intrachromosomal inversions, forming a tandem double inversion that allowed for a transcriptionally competent fusion transcript, resolving a long-standing cytogenetic paradox.
Diagnostic / clinical pearl
Clinicians should consider complex intrachromosomal rearrangements when encountering KAT6A::NCOA2 fusions in AML, as traditional cytogenetic findings may not fully explain the underlying genomic architecture.
Why it matters
Understanding the genomic mechanisms behind rare fusions like KAT6A::NCOA2 can enhance diagnostic accuracy and inform treatment strategies in acute myeloid leukemia.