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B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is a heterogeneous malignancy and consists of several genetic abnormalities. Some of these abnormalities are used in clinics for risk calculation and treatment decisions. Patients with  ZNF384  rearrangements had a distinct expression profile regardless of their diagnosis, BCP-ALL or mixed phenotype acute leukemia (MPAL) and defined as a new subtype of ALL. In this study, we screened 42 MPAL and 91 BCP-ALL patients for the most common  ZNF384  fusions; Z NF384::TCF3, ZNF384::EP300  and  ZNF384::TAF15  by using PCR. We identified  ZNF384  fusions in 9.5% of MPAL and 7.6% of BCP-ALL. A novel breakpoint was identified in  ZNF384::TCF3  fusion in one BCP-ALL patient. T-myeloid MPAL patients showed significantly lower  ZNF384  expression compared to lymphoid groups. Patients with  ZNF384 r had intermediate survival rates based on other subtypes. Prognostic and patient-specific treatment evaluation of  ZNF384  fusions in both ALL and MPAL might help to improve risk characterization of patients.

Zinc finger protein 384 ( ZNF384 ) impact on childhood mixed phenotype acute leukemia and B-cell precursor acute lymphoblastic leukemia