The Synonymous Isocitrate Dehydrogenase 1 315C>T SNP Confers an Adverse Prognosis in Egyptian Adult Patients with NPM1-/CEBPA-Negative Acute Myeloid Leukemia

  • Mohamed A. M. AliEmail author
  • Emad K. Ahmed
  • Magda M. A. Assem
  • Reham Helwa
Original Article


Although the clinical features of isocitrate dehydrogenase (IDH) genetic aberrations have been well-characterized in acute myeloid leukemia (AML), definitive information on their prognostic significance is lacking. We aimed to explore the prognostic significance of IDH gene alterations in an Egyptian cohort of adult patients with de novo AML. Diagnostic peripheral blood samples from 51 AML patients were analyzed for the presence of mutations/SNPs in exon 4 of IDH1 and IDH2 genes using polymerase chain reaction amplification followed by direct sequencing. IDH mutational status had no impact on event-free survival (EFS) and overall survival (OS), whereas the presence of IDH1 315C>T SNP was significantly associated with inferior EFS (P = 0.037) and OS (P = 0.034) as compared with wild-type IDH1. IDH1 315C>T SNP but not IDH mutations is associated with unfavorable outcomes, suggesting that AML patients with IDH1 315C>T SNP can represent a new subgroup of patients which allows refined risk stratification.


Acute myeloid leukemia Isocitrate dehydrogenase 1 and 2 Mutations Single nucleotide polymorphisms Prognostic markers 


Author Contributions

Study conception and design: M.A.M.A. and R.H.; Patients recruitment and clinical monitoring: M.M.A.A.; Conducting the mutations analysis: M.A.M.A., E.K.A. and R.H.; acquisition of data: M.M.A.A. and R.H.; Analysis and interpretation of data: M.A.M.A.; Conceptualization and drafting of the manuscript: M.A.M.A.; Critical revision of the manuscript: M.A.M.A., E.K.A., M.M.A.A. and R.H.; All authors have approved the final version of the submitted manuscript. All authors have contributed significantly to this study, and all of them are in agreement with the content of the manuscript.

Compliance with Ethical Standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical Approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the National Cancer Institute research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed Consent

Informed consent was obtained from all individual participants included in the study.


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Copyright information

© Indian Society of Haematology & Transfusion Medicine 2017

Authors and Affiliations

  • Mohamed A. M. Ali
    • 1
    Email author
  • Emad K. Ahmed
    • 1
  • Magda M. A. Assem
    • 2
  • Reham Helwa
    • 3
  1. 1.Department of Biochemistry, Faculty of ScienceAin Shams UniversityCairoEgypt
  2. 2.Clinical Pathology Department, National Cancer InstituteCairo UniversityCairoEgypt
  3. 3.Zoology Department, Faculty of ScienceAin Shams UniversityCairoEgypt

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