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.com
Volume 5, Issue 2 (Suppl)
Transcriptomics, an open access journal
ISSN: 2329-8936
Molecular Biology 2017
August 31-September 01, 2017
2
nd
International Conference on
August 31-September 01, 2017 Philadelphia, USA
Molecular Biology, Nucleic Acids &
Molecular Medicine
Study of alternative
Wilms tumor
gene methylation as an epigenetic biomarker in acute myeloid
leukemia
Reham Abo Elwafa, Magdy El-Bordiny, Ashraf Al-Ghandour
and
Omneya Fayed
Alexandria University, Egypt
Background:
Overexpression of the
Wilms tumor 1 gene
(
WT1
) is implicated in the prognosis of acute myeloid leukemia
(AML) with high expression predicting disease progression, as well as being intensively studied as a potential molecular marker
for minimal residual disease (MRD) and treatment response. Many different isoforms for
WT1
are generated by alternative
transcription initiation, mRNA splicing and alternative translation initiation. Recently, an alternative promoter incorporating a
unique first exon, alternative
WT1
transcript
(AWT1
), has been described. The
AWT1
expression and the underlying epigenetic
alterations associated with its expression in AML are still unknown.
Objectives:
We studied the
AWT1
gene specific methylation changes and its relationship with other clinicopathological features.
We also integrated the corresponding gene expression profile to explore the role of methylation in regulating gene expression.
Materials &Methods:
Bisulfite PCR followed by pyrosequencing were done to determine the methylation status of
AWT1
gene
promotor CPG islands in 50 newly diagnosed AML patients and 50 healthy subjects as a control group. The level of
AWT1
expression was assessed using RQ-PCR.
Results:
AWT1
expression level was significantly higher in the AML patients in comparison to the control group (P<0.001) and
it was surprising to find robust hypermethylation of the
AWT1
promoter in AML patients compared to the controls (P<0.001).
A statistically significant negative correlation between
AWT1
expression and methylation level was found (r=0.67, P<0.001).
At a cutoff value of 45.2%
AWT1
promoter hypermethylation was found to be a highly specific marker for AML (specificity
95% and sensitivity 97.5%)
Conclusion:
We described an expression methylation signature of the
AWT1
that are promising markers for diagnosis and
MRD assessment in AML.
Biography
Reham Abo Elwafa is a Lecturer of Clinical Pathology, Faculty of Medicine in Alexandria University, Egypt. She has expertise in Research, Teaching and
Administration in Hospital and Education Institution. She is expert in Molecular Techniques: PCR (conventional, and real time PCR), microarray, pyrosequencing
and NGS in addition to FISH techniques including Prenatal Genetic Diagnosis (PGD) and flow cytometric immunophenotyping of different types of hematologic
malignancies. She has several international publications in the field of Molecular Biology, Genetics and Epigenetics.
rehamhalem@hotmail.comReham Abo Elwafa et al., Transcriptomics 2017, 5:2 (Suppl)
DOI: 10.4172/2329-8936-C1-013