Clinical, Phenotypic and Molecular Characterization of <i>NUP214-ABL1</i> Fusion Positive Myeloid Malignancies

The identification of a <i>NUP214-ABL1</i> fusion has been seen in about 6% of patients with T lymphoblastic leukemia (T-ALL). It has been described at a lower frequency in B-lymphoblastic leukemia (B-ALL) patients as well. To our knowledge, this is the first case report documenting a <i>NUP214-ABL1</i> fusion in a patient with newly diagnosed myelodysplastic syndrome (MDS) as identified by next-generation sequencing (NGS). A case report by Wang et al recently described a case report of the first <i>NUP214-ABL1</i> fusion in a patient with newly diagnosed acute myeloid leukemia (AML). This shows that this specific translocation is not isolated to lymphoid malignancies, and can be associated with myeloid malignancies as well. The potential use of tyrosine kinase inhibitors (TKIs) as a line of treatment for patients who harbor this translocation makes this finding of particular interest. However, while there have been individual reports noting the effect of TKIs in T-ALLs with <i>NUP214-ABL1</i> fusions, additional research is needed to fully understand the role of this mutation in myeloid derived malignancies, and its corresponding treatment and prognostic implications.