Deregulation of FOXF1/FENDRR from t(14;16)(q32;q24) defines a subtype of high-risk lineage ambiguous leukemia - PubMed
5 days ago
- #genetics
- #oncology
- #leukemia
- Deregulation of FOXF1/FENDRR due to t(14;16)(q32;q24) translocation defines a high-risk subtype of lineage ambiguous leukemia.
- This leukemia subtype shows a distinct gene expression signature and immunophenotype, including markers for immature, myeloid, T-lymphoid, and B-lymphoid cells.
- The translocation places FOXF1 and FENDRR under the control of the BCL11B enhancer, leading to their ectopic activation.
- Common genetic lesions include GATA3 loss-of-function, CDKN2A/CDKN2B deletions, and JAK/STAT and NOTCH1 pathway mutations.
- Patients are predominantly children and young adults, with poor treatment outcomes.
- High-throughput drug screening identified potential efficacy of BCL2-family protein and JAK/STAT signaling inhibitors.
- Tyrosine kinase inhibitors showed therapeutic efficacy in some cases.
- The findings suggest potential for targeted therapeutic interventions in this high-risk leukemia subtype.