Clinical and pathological features DNMT3A, FLT3, KIT, NPM1, NRAS, TP53 and WT1 genes mutations detection in acute myeloid leukemia patients aged 15–45 years old

A.V. Vinogradov; A.V. Rezaykin; S.V. Sazonov; A.G. Sergeev

doi:10.23868/201811036

Clinical and pathological features DNMT3A, FLT3, KIT, NPM1, NRAS, TP53 and WT1 genes mutations detection in acute myeloid leukemia patients aged 15–45 years old

Genes and Cells ◽

10.23868/201811036 ◽

2018 ◽

Vol XIII (3) ◽

Author(s):

A.V. Vinogradov ◽

A.V. Rezaykin ◽

S.V. Sazonov ◽

A.G. Sergeev

Keyword(s):

Acute Myeloid Leukemia ◽

Myeloid Leukemia ◽

Pathological Features ◽

Clinical And Pathological Features ◽

Acute Myeloid

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Dysregulation of CCAAT/enhancer binding protein-alpha (CEBPA) expression in the bone marrow of acute myeloid leukemia patients

Egyptian Journal of Medical Human Genetics ◽

10.1186/s43042-021-00154-z ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Naglaa M. Hassan ◽

Fadwa Said ◽

Roxan E. Shafik ◽

Mona S. Abdellateif

Keyword(s):

Bone Marrow ◽

Acute Myeloid Leukemia ◽

Myeloid Leukemia ◽

Binding Protein ◽

Response To Treatment ◽

Pathological Features ◽

Poor Prognostic Factor ◽

Enhancer Binding Protein ◽

Ccaat Enhancer Binding Protein ◽

Acute Myeloid

Abstract Background Acute myeloid leukemia (AML) is a heterogeneous malignant disease characterized by accumulation of different types of mutations commonly the CCAAT/enhancer binding protein-alpha (CEBPA). However, the dysregulations of CEBPA expression in AML is still a debatable issue. The aim of the current study was to assess CEBPA gene expression in bone marrow (BM) aspiration specimens of 91 AML patients, compared to 20 control donors of bone marrow transplantation (BMT), using RT-PCR. Data were correlated with patients’ clinico-pathological features, response to treatment, progression-free survival (PFS), and overall survival (OS) rates. Results There was overexpression of CEBPA gene in AML patients compared to normal control [1.7 (0.04–25.6) versus 0.17 (0–4.78), respectively, P < 0.001]. Upregulation of CEBPA expression associated significantly with increased BM hypercellularity, total leucocyte counts, peripheral blood blast cell count, and poor PFS (P < 0.001, 0.002, 0.001, and 0.013, respectively). There was no significant association between CEBPA expression and any other relevant clinico-pathological features or OS rates (P = 0.610) of the patients. ROC analysis for biological relevance of CEBPA expression with AML showed that sensitivity and specificity of CEBPA expression at a cut-off value of 0.28 are 92.3% and 78.6%, respectively (P < 0.001). All patients who had CEBPA overexpression and mutant FLT3 showed BM hypercellularity, adverse cytogenetic risk, increased TLC, and PB blast cells count (P = 0.007, P < 0.001, 0.016, and 0.002, respectively). Conclusion CEBPA overexpression could be used as a genetic biological marker for AML diagnosis, as well as a poor prognostic factor for disease progression. It has no impact on OS rates of the patients.

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