A Case of Acute Myeloid Leukemia with MOZ::TIF2 Fusion Gene Resulting from a Novel Breakpoint

We report a rare case of acute myeloid leukemia (AML) harboring an MOZ::TIF2 fusion gene with a previously unreported breakpoint. A 36-year-old man was diagnosed with AML involving inv(8)(p11.2q13). Reverse transcriptase-polymerase chain reaction (RT-PCR) initially failed to detect the conventional MOZ exon16::TIF2 exon14 fusion associated with inv(8)(p11.2q13); however, further sequencing identified a novel breakpoint of MOZ exon14::TIF2 exon12, with an additional shorter transcript lacking TIF2 exon13. MOZ::TIF2-positive AML is extremely rare, with only eight cases previously reported, and adult cases appear to have particularly poor outcomes. Our case highlights the diagnostic challenges and aggressive clinical behavior associated with MOZ::TIF2-rearranged AML.