Clinical significance of EVI-1 gene expression and aberrations in patient with de-novo acute myeloid and acute lymphoid leukemia

• Published in: Leukemia research 2023-03, Vol.126, p.107019-107019, Article 107019
• Main Authors: Nabil, Reem, Abdellateif, Mona S., Gamal, Hend, Hassan, Naglaa M., Badawy, Ragia H., Ghareeb, Mohamed, El Ashry, Mona S.
• Format: Article
• Language: English
• Subjects: Acute Disease; Acute leukemia; ALL; AML; Clinical Relevance; EVI-1; FISH; Gene Expression; Humans; In Situ Hybridization, Fluorescence; Leukemia, Myeloid, Acute - genetics; Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics; Translocation, Genetic
• ISSN: 0145-2126; 1873-5835
• DOI: 10.1016/j.leukres.2023.107019

Acute leukemia is a common health problem in adults and children, however its exact molecular etiology is still unclear. The expression of EVI-1 was assessed in the bone marrow of 178 de-novo acute leukemia patients (101 AML, 71 ALL and 6 MPAL), compared to 40 control subjects. EVI-1 gene aberrations were also assessed in 69 AML patients using Fluorescence in situ hybridization (FISH) technique. The expression of EVI-1 was significantly lower in ALL patients compared to control [0.177 (0.002–15.189) vs 0.953 (0.179–1.68); respectively, P = 0.009]. There was no significant difference between AML patients and control group [0.150 (0.0–641) vs 0.953 (0.179–1.68); respectively, P = 0.082]. The sensitivity, specificity, AUC of EVI-1 in ALL were (80.3 %, 60 % and 0.778; respectively, P = 0.009), and (67.3 %, 60 %, 0.667; respectively P = 0.082) in AML patients. One patient showed EVI-1 gene rearrangement in a complex karyotype and four patients showed EVI-1 amplification in hyperdiploid karyotypes. All patients with BCR-ABL fusion were EVI-1 over-expressers (P = 0.010). AML patients with EVI-1 low expression were positively associated with t(8;21)(q22;q22)RUNX1:RUNX1T1 fusion, favorable recurrent translocation, and low genetic risk (P = 0.037, P = 0.023, and P = 0.013; respectively). There was a significant association between low EVI-1 expression and prolonged overall survival (OS) in AML patients, while there was no significant association with the disease-free survival (DFS) (P = 0.048 and P = 0.419). There was no significant impact of EVI-1 expression on OS and DFS rates in ALL patients. EVI-1 expression could be a helpful diagnostic, prognostic, and predictive biomarker for acute leukemia especially in AML. •EVI-1 expression could be a helpful diagnostic, prognostic, and predictive biomarker for AML patients.•EVI-1 could be used to identify AML patients with t(8;21)(q22;q22)RUNX1:RUNX1T1 fusion, favorable recurrent translocation, and those with low genetic risk.•It is considered an adverse prognostic marker for the overall survival rates in AML patients.