Genetic Profiling of Pediatric Patients with B-Cell Precursor Acute Lymphoblastic Leukemia

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dc.authoridOzdag, Hilal/0000-0001-7940-2499
dc.authoridMahmud, Akkan/0000-0003-4479-0940
dc.authoridakar, nejat/0000-0001-8228-8885
dc.authorid, beyza/0000-0001-8845-2287
dc.authoridASLAR ONER, DENIZ/0000-0002-9515-0073
dc.contributor.authorAkin-Bali, Dilara Fatma
dc.contributor.authorErdogan, Beyza Doganay
dc.contributor.authorOner, Deniz Aslar
dc.contributor.authorMahmud, Akkan
dc.contributor.authorTasdelen, Serpil
dc.contributor.authorKurekci, Emin
dc.contributor.authorAkar, Nejat
dc.date.accessioned2024-11-07T13:34:56Z
dc.date.available2024-11-07T13:34:56Z
dc.date.issued2023
dc.departmentNiğde Ömer Halisdemir Üniversitesi
dc.description.abstractB-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.
dc.description.sponsorshipScientific and Technological Research Council of Turkey (TUBITAK) [114S030]; Ankara University Scientific Research Projects Office [14L0415002]
dc.description.sponsorshipThiswork was supported by grants from the Scientific and Technological Research Council of Turkey (TUBITAK) (project no. 114S030) and Ankara University Scientific Research Projects Office (project no 14L0415002).
dc.identifier.doi10.1055/s-0041-1742246
dc.identifier.endpage300
dc.identifier.issn2146-4596
dc.identifier.issn2146-460X
dc.identifier.issue4
dc.identifier.pmid38162155
dc.identifier.startpage288
dc.identifier.urihttps://doi.org/10.1055/s-0041-1742246
dc.identifier.urihttps://hdl.handle.net/11480/16251
dc.identifier.volume12
dc.identifier.wosWOS:000753609000001
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherGeorg Thieme Verlag Kg
dc.relation.ispartofJournal of Pediatric Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_20241106
dc.subjectpediatric BCP-ALL
dc.subjectmutation
dc.subjectgene expression
dc.subjectNGS
dc.subjectbiomarker
dc.titleGenetic Profiling of Pediatric Patients with B-Cell Precursor Acute Lymphoblastic Leukemia
dc.typeArticle

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