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Vol. 63 No. 8: Issue 8

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The correlation between Pax5 deletion and patients survival in Iranian children with precursor B-cell acute lymphocytic leukemia

https://doi.org/10.14715/cmb/2017.63.8.4
A. Moafi
Department of pediatric, school of medicine, Isfahan University of medical sciences, Isfahan, Iran
http://orcid.org/0000-0002-5375-483X
A. Zojaji
Department of genetics, Islamic Azad University of Tabriz, Tabriz, Iran
R. Salehi
Department of Genetics, school of medicine, Isfahan University of medical sciences, Isfahan, Iran
S. Najafi Dorcheh
Division of Cell and Molecular Biology, Department of Biology, Faculty of Science, University of Isfahan, Isfahan, Iran
S. Rahgozar
Division of Cell and Molecular Biology, Department of Biology, Faculty of Science, University of Isfahan, Isfahan, Iran

Corresponding Author(s) : A. Moafi

armoafi@yahoo.com

Cellular and Molecular Biology, Vol. 63 No. 8: Issue 8

Abstract

Despite advances in treatment, children with acute lymphoblastic leukemia (ALL) still experience drug resistance and relapse. Several gene mutations are involved in the onset of this disease and resistance to therapy. The present study examines the incidence of IKZF1, CDKN2A/B, PAX5, EBF1, ETV6, BTG1, RB1, JAK2, and Xp22.33 gene deletions/duplications associated with pediatric ALL in Iran and investigates the possible effect of these mutations on drug resistance. Three-year disease-free survival (3DFS) was evaluated for children diagnosed with Philadelphia negative precursor-B-cell ALL hospitalized at Sayed-al-Shohada Hospital, Isfahan-Iran, from January 2009 until December 2012. DNA was extracted from bone marrow slides, and ALL correlated gene deletions and duplications were measured using Multiplex Ligation-dependent Probe Amplification (MLPA) method. The correlation between gene mutations and 3DFS was then assessed. Among the nine aforementioned investigated genes, 63% of samples showed at least one gene mutation. At least two concomitant genomic mutations were observed in 42% of samples. Pax5 deletion was the most prevalent gene mutation observed in 45% of cases, and showed significant negative impact on response to treatment. CDKN2A/B (9p21.3) gene deletion, and ETV6 (12p13.2) gene duplication also demonstrated negative effect on patient survival and contributed to a worse prognosis if concomitant with Pax5 gene deletion. ALL patients with one of the gene deletions including Pax5  and CDKN2A/B (9p21.3) or ETV6 (12p13.2) gene duplication are classified as high-risk patients and need more intensified protocols of treatment to improve their chance of survival.

Keywords

Acute lymphocytic leukemia Pax5 gene deletion CDKN2A/B gene deletion ETV6 gene duplication Disease free survival.
Moafi, A., Zojaji, A., Salehi, R., Najafi Dorcheh, S., & Rahgozar, S. (2017). The correlation between Pax5 deletion and patients survival in Iranian children with precursor B-cell acute lymphocytic leukemia. Cellular and Molecular Biology, 63(8), 19–22. https://doi.org/10.14715/cmb/2017.63.8.4
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Author Biographies

A. Moafi, Department of pediatric, school of medicine, Isfahan University of medical sciences, Isfahan, Iran

Associate professor, Department of Pediatric-Hematology-Oncology, Sayed Al-Shohada Hospital, Isfahan University of Medical Sciences, Isfahan,

A. Zojaji, Department of genetics, Islamic Azad University of Tabriz, Tabriz, Iran
Department of genetics, Islamic Azad University of Tabriz, Tabriz, Iran
R. Salehi, Department of Genetics, school of medicine, Isfahan University of medical sciences, Isfahan, Iran

Full professor in Genetics
Isfahan University of Medical Sciences

S. Najafi Dorcheh, Division of Cell and Molecular Biology, Department of Biology, Faculty of Science, University of Isfahan, Isfahan, Iran
Department of Biology, Faculty of Sciences, University of Isfahan, Isfahan,
S. Rahgozar, Division of Cell and Molecular Biology, Department of Biology, Faculty of Science, University of Isfahan, Isfahan, Iran

Assistant professor, Department of Biology, Faculty of Sciences, University of Isfahan, Isfahan,

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