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    Genetic Profiling of Pediatric Patients with B-Cell Precursor Acute Lymphoblastic Leukemia
    (Georg Thieme Verlag Kg, 2023) Akin-Bali, Dilara Fatma; Erdogan, Beyza Doganay; Oner, Deniz Aslar; Mahmud, Akkan; Tasdelen, Serpil; Kurekci, Emin; Akar, Nejat
    B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is a heterogeneous leukemia subgroup. It has multiple sub-types that are likely to be classified by prognostic factors. Following a systematic literature review, this study analyzed the genes correlated with BCP-ALL prognosis (IKZF1, PAX5, EBF1, CREBBP, CRLF2, JAK2, ERG, aCR4, ZAP70, VLA4, NF1, NR3C1, RB1, TSLP, ZNRF1, and FOXO3A), specifically their nucleotide variations and expression profiles in pediatric BCP-ALL samples. The study included 45 pediatric BCP-ALL patients with no cytogenetic anomaly and a control group of 10 children. The selected genes' hot-spot regions were sequenced using next-generation sequencing, while Polymorphism Phenotyping v2 and Supplemental Nutrition Assistance Program were used to identify pathogenic mutations. The expression analysis was performed using quantitative real-time polymerase chain reaction. The mutation analysis detected 328 variants (28 insertions, 47 indels, 74 nucleotide variants, 75 duplications, and 104 deletions). The most and least frequently mutated genes were IKZF1 and CREBBP, respectively. There were statistically significant differences between patients and controls for mutation distribution in eight genes (ERG, CRLF2, CREBBP, TSLP, JAK2, ZAP70, FOX03A, and NR3C1). The expression analysis revealed that JAK and ERG were significantly overexpressed in patients compared with controls (respectively, p = 0.004 and p =0.003). This study combined genes and pathways previously analyzed in pediatric BCP-ALL into one dataset for a comprehensive analysis from the same samples to unravel candidate prognostic biomarkers. Novel mutations were identified in all of the studied genes.
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    Screening of EPCR gene mutations in children with acute lymphoblastic leukemia
    (Wolters Kluwer Medknow Publications, 2018) Bali, Dilara F. A.; Ozkan, Didem T.; Kurekci, Emin; Akar, Nejat
    [Abstract Not Available]
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    Screening of single nucleotide polymorphism in CD95 (APO-1/FAS) promoter region (G-1377A) in children with acute leukemia
    (Wolters Kluwer Medknow Publications, 2018) Akin, Dilara F.; Ozkan, Didem T.; Kurekci, Emin; Akar, Nejat
    Background CD95 is a cell surface receptor involved in apoptotic signal transmission. Deregulation of this pathway results in downregulation of apoptosis and subsequent persistence of a malignant clone. A single nucleotide polymorphism resulting in guanine-to-adenine (G>A) transition in the CD95 promoter region (position - 1377) is thought to reduce stimulatory protein 1 transcription factor binding and decrease CD95 expression. The purpose of this study is to examine a genetic polymorphism in the core promoter region of CD95 and to evaluate association between its frequency and clinical findings. Patients and methods G-1377A in the CD95 promoter region was genotyped by polymerase chain reaction and restriction endonuclease analysis finally were sequenced by Sanger Sequecing. Results Among 146 patients, CD95 G-1377A (rs2234767) single nucleotide polymorphism carriers frequencies have been identified as 25% (n=37) GA and AA 4% (n=6). This polymorphism of the distribution of the CD95 gene in children with acute leukemia will be a guide for future studies. Conclusion This polymorphism of the distribution of the CD95 gene in children with acute leukemia will be a guide for future studies. (c) 2018 The Egyptian Journal of Haematology