Prognostic Significance of CEBPA Mutations and BAALC Expression in Acute Myeloid Leukemia Patients with Normal Karyotype
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Jehan A. El-Sharnouby 1, Laila M. Sayed Ahmed 1, Atef M. Taha 1, Kamal Okasha 1
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1 Tanta University, Faculty of Medicine, Tanta, Egypt

Abstract

Aim: The aim of this work is to study the prognostic impact of mutations in the myeloid transcription factor gene CEBPA (for CCAAT/enhancer binding protein-α) and expression of the BAALC gene (for brain and acute leukemia, cytoplasmic), a novel gene involved in leukemia, in 38 adults with AML and normal cytogenetics. Method: Screening for mutations of CEBPA gene was assessed using PCR-single-strand conformation polymorphism (PCR-SSCP), and BAALC expression was determined by real-time reverse transcriptase polymerase chain reaction in blood or bone marrow samples. Result: CEBPA mutations were found in 7 (18.4%) of 38 patients, 36.8 % (14 of 38) had low BAALC expression and 63.2 % (24 of 38) had high BAALC expression. Patients with CEBPA mutations had favorable course of their disease. They had higher rate of complete remission (CR) (85.7 % vs 51.6 %; p= 0.108), lower incidence of relapse (0% vs 41.9%; p= 0.038). Disease free survival (DFS) and overall survival (OS) were significantly longer for patients with CEBPA mutations compared with patients without mutations (mean 13.65±5.41 vs 7.32±4.33 months, p= 0.047; mean 15.32±6.5 vs 8.5±3.21 months, p= 0.039; respectively). Compared to low BAALC expressers, high BAALC expressers had lower incidence of CR (50% vs 71.4%; p= 0.171), higher incidence of relapse (50% vs 14.3%; p= 0.029), and showed significantly shorter DFS (mean 7.5±2.12 vs 11.67±4.6 months, p= 0.038) and inferior overall survival (mean 9.1±3.52 vs 13.22±4.21 months, p= 0.024). Conclusion: From this study, we can conclude that CEBPA mutation status and BAALC expression are important prognostic factors in AML patients with normal cytogenetics and their incorporation into novel risk-adapted therapeutic strategies will improve the currently disappointing cure rate of this group of patients.

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Article Type: Original Article

EUR J GEN MED, Volume 7, Issue 1, January 2010, 17-28

https://doi.org/10.29333/ejgm/82788

Publication date: 12 Jan 2010

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