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EVI-1基因表达及畸变在初发急性髓系白血病和急性淋巴细胞白血病患者中的临床意义

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

作者信息

Nabil Reem, Abdellateif Mona S, Gamal Hend, Hassan Naglaa M, Badawy Ragia H, Ghareeb Mohamed, El Ashry Mona S

机构信息

Clinical Pathology Department, National Cancer Institute, Cairo University, Egypt.

Medical Biochemistry and Molecular Biology, Cancer Biology Department, National Cancer Institute, Cairo University, Egypt.

出版信息

Leuk Res. 2023 Mar;126:107019. doi: 10.1016/j.leukres.2023.107019. Epub 2023 Jan 14.

DOI:10.1016/j.leukres.2023.107019

PMID:36657369

Abstract

BACKGROUND

Acute leukemia is a common health problem in adults and children, however its exact molecular etiology is still unclear.

METHODS

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.

RESULTS

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.

CONCLUSION

EVI-1 expression could be a helpful diagnostic, prognostic, and predictive biomarker for acute leukemia especially in AML.

摘要

背景

急性白血病是成人和儿童常见的健康问题，但其确切的分子病因仍不清楚。

方法

评估了178例初发急性白血病患者（101例急性髓系白血病、71例急性淋巴细胞白血病和6例混合表型急性白血病）骨髓中EVI-1的表达，并与40例对照者进行比较。还使用荧光原位杂交（FISH）技术评估了69例急性髓系白血病患者的EVI-1基因畸变情况。

结果

与对照组相比，急性淋巴细胞白血病患者中EVI-1的表达显著降低[分别为0.177（0.002 - 15.189）和0.953（0.179 - 1.68）；P = 0.009]。急性髓系白血病患者与对照组之间无显著差异[分别为0.150（0.0 - 641）和0.953（0.179 - 1.68）；P = 0.082]。EVI-1在急性淋巴细胞白血病中的敏感性、特异性、AUC分别为（80.3%、60%和0.778；P = 0.009），在急性髓系白血病患者中分别为（67.3%、60%、0.667；P = 0.082）。1例患者在复杂核型中出现EVI-1基因重排，4例患者在超二倍体核型中出现EVI-1扩增。所有BCR-ABL融合阳性患者均为EVI-1过表达者（P = 0.010）。EVI-1低表达的急性髓系白血病患者与t(8;21)(q22;q22)RUNX1:RUNX1T1融合、有利的复发性易位和低遗传风险呈正相关（分别为P = 0.037、P = 0.023和P = 0.013）。EVI-1低表达与急性髓系白血病患者的总生存期（OS）延长显著相关，而与无病生存期（DFS）无显著关联（P = 0.048和P = 0.419）。EVI-1表达对急性淋巴细胞白血病患者的OS和DFS率无显著影响。