A Case of Acute Myeloid Leukemia with Myelodysplasia-Related Changes, SET-NUP214 Fusion, and Complex Karyotype

The SET-NUP214 fusion formed by cryptic t(9;9)(q34;q34) or del(9)(q34.11q34.13) is a rare gene rearrangement. This rearrangement has been reported mostly in T-cell acute lymphoblastic leukemia, but only rarely in acute myeloid leukemia (AML). The acute leukemia cases with the SET-NUP214 fusion gene show typical immunophenotype, karyotype, and poor treatment response. However, the cytogenetic or genetic changes in AML with SET-NUP214 fusion are not well understood.The diagnosis was made based on a combination of the morphology, immunophenotyping, multiplex reverse transcriptase-polymerase chain reaction, FISH, karyotype, Sanger sequencing, next-generation sequencing, and microarray analysis.The author reports a rare case of AML with myelodysplasia-related changes, SET-NUP214 fusion gene, and complex karyotype that was resistant to induction chemotherapy, making diagnosis and treatment difficult.Further studies, including cytogenetic and molecular analyses, are needed to determine the pathophysiology and clinical significance for this rare gene rearrangement.