TY - JOUR ID - 89384 TI - Frequency and Correlation of Common Genes Copy Number Alterations in Childhood Acute Lymphoblastic Leukemia with Prognosis JO - Asian Pacific Journal of Cancer Prevention JA - APJCP LA - en SN - 1513-7368 AU - Hosein Pour feizi, Abbasali AU - Zeinali, Sirous AU - Toporski, Jacek AU - Sheervalilou, Roghayeh AU - Mehranfar, Sahar AD - Hematology and Oncology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. AD - Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran. AD - Department of Clinical Sciences, Pediatric Oncology and Hematology, University of Lund, Lund, Sweden. AD - Pharmacology Research Center, Zahedan University of Medical Sciences, Zahedan, Iran. Y1 - 2020 PY - 2020 VL - 21 IS - 12 SP - 3493 EP - 3500 KW - Childhood acute lymphoblastic leukemia (ALL) KW - multiplex ligation-dependent probe amplification (MLPA) KW - copy number alterations (CNA) KW - PAX5 KW - CDKN2A/B DO - 10.31557/APJCP.2020.21.12.3493 N2 - Objective: It was shown by genomic profiling that despite no detectable chromosomal abnormalities a proportion of children with pre-B acute lymphoblastic leukemia harbors copy number alterations (CNA) of genes playing role in B-cell development and function. The aim of the study was to determine the frequency of CNA in pediatric acute lymphoblastic leukemia and correlate these findings with clinical outcome. Methods: DNA extracted from peripheral blood or bone marrow at diagnosis/relapse of fifty newly diagnosed children with precursor B-cell acute lymphoblastic leukemia was analyzed for CNA with multiplex ligation-dependent probe amplification. Results: The analysis revealed 76 CNA in 24 patients most frequently found in PAR1 (17%), CDKN2A/B (15.7%) and PAX5 (14.4%) genes. There were significant CNA co-occurrences between PAX5, CDKN2A/B, BTG1, ETV6, PAR1 or XP22 genes, (p <0.020) and the high-risk group. There was a significant correlation between EBF1, RB1, and IKZF1 alterations and bone marrow relapse. Patients with CNA in screened genes are more likely to succumb to their disease except for those with PAR1 or XP22 genes (p <0.050). Conclusion: The multiplex ligation-dependent probe amplification could be considered as an independent diagnostic tool allowing prompt identification of patients at high risk of treatment failure and, subsequently, a more adequate treatment approach. UR - https://journal.waocp.org/article_89384.html L1 - https://journal.waocp.org/article_89384_2cd6394fe69f399b2fcc24039d44ba6e.pdf ER -