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Melanoma Antigen Encoding Gene-A3 Expression, Its Clinical Significance, and Its Risk of Developing Acute Myeloid Leukemia
  1. Manal Mohamed Makhlouf, MD
  1. From the Department of Clinical and Chemical Pathology, Faculty of Medicine, El-Kasr El-Aini Hospital, Cairo University, Cairo, Egypt.
  1. Received May 7, 2011, and in revised form June 4, 2011.
  2. Accepted for publication June 18, 2011.
  3. Reprints: Manal Mohamed Makhlouf, MD, Department of Clinical and Chemical Pathology, Faculty of Medicine, El-Kasr El-Aini Hospital, Cairo University, Cairo, Egypt. E-mail: manalmakhlouf2{at}
  4. This study was funded by the author.
  5. The author declared that the article has not been submitted elsewhere, is not under review, or has not been published previously.
  6. The author declared no conflicts of interest.


Background Melanoma antigen encoding gene A3 (MAGE-A3) gene, also called cancer/testis (CT) antigen, is a member of MAGE multigene family, which is located on the long arm of the X chromosome, and its expression can be caused by promoter region demethylation. The MAGE-A3 proteins' functions are unknown, but they were found to play a role in cell cycle progression, transcriptional regulation, and drug resistance. The aims of this study were to determine the expression of the MAGE-A3 gene in an Egyptian cohort of de novo acute myeloid leukemia (AML) patients and to define its role in the development of AML and its correlation with clinical presentation, laboratory data, as well as treatment outcome.

Patients and Methods This study included 40 de novo AML patients as well as 30 age- and sex-matched normal healthy subjects as a control group. They were all subjected to reverse transcription-polymerase chain reaction assay for the detection of MAGE-A3 gene expression.

Results Our study revealed that 23 AML patients (57.5%) expressed the MAGE-A3 gene, whereas none of the control group subjects (0%) expressed this gene. It was found that the expression of MAGE-A3 gene was associated with an increased risk of AML (odds ratio = 2.763; 95% confidence interval, 1.890-8.041). Regarding treatment outcome, a highly statistical significant difference was found between MAGE-A3-positive and -negative AML patients with P < 0.001, as the MAGE-A3-positive AML patients had a higher incidence of unfavorable treatment outcome, whereas the MAGE-A3-negative patients had a higher incidence of favorable outcome. This clarifies that the MAGE-A3 gene expression was found to have a significant impact on the risk of treatment failure (odds ratio = 3.591; 95% confidence interval, 1.273-10.462).

Conclusions The expression of MAGE-A3 gene may have a clinical relevance and important role as a risk factor in the development of AML. It may be considered as a prognostic marker and may be useful as a predictive test for treatment outcome in AML.

Key Words
  • MAGE-A3
  • reverse transcription-polymerase chain reaction
  • AML

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