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

• Published in: Leukemia & lymphoma Vol. 63; no. 12; pp. 2931 - 2939
• Main Authors: Sudutan, Tugce, Erbilgin, Yucel, Hatirnaz Ng, Ozden, Karaman, Serap, Karakas, Zeynep, Kucukcankurt, Fulya, Celkan, Tiraje, Timur, Cetin, Ozdemir, Gul Nihal, Hacısalihoglu, Sadan, Gelen, Sema Aylan, Sayitoğlu, Müge
• Format: Journal Article
• Language: English
• Published: United States Taylor & Francis 15.10.2022
• Subjects: B-cell precursor ALL; Burkitt Lymphoma; Child; Humans; mixed phenotype acute leukemia; Phenotype; Precursor Cell Lymphoblastic Leukemia-Lymphoma - diagnosis; Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics; Precursor Cell Lymphoblastic Leukemia-Lymphoma - pathology; Trans-Activators - genetics; Trans-Activators - metabolism; Transcription Factors - genetics; Zinc Fingers; ZNF384 expression levels; ZNF384 fusion; mixed phenotype acute leukemia; ZNF384 fusion; ZNF384 expression levels; B-cell precursor ALL
• ISSN: 1042-8194; 1029-2403
• DOI: 10.1080/10428194.2022.2095630

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; ZNF384::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 ZNF384r 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.