Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.11851/8722
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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.accessioned2022-07-30T16:47:36Z-
dc.date.available2022-07-30T16:47:36Z-
dc.date.issued2022-
dc.identifier.citationAkin-Bali, D. F., Erdogan, B. D., Oner, D. A., Mahmud, A., Tasdelen, S., Kurekci, E., ... & Sevgili, H. O. (2022). Genetic Profiling of Pediatric Patients with B-Cell Precursor Acute Lymphoblastic Leukemia. Journal of Pediatric Genetics.en_US
dc.identifier.issn2146-4596-
dc.identifier.issn2146-460X-
dc.identifier.urihttps://doi.org/10.1055/s-0041-1742246-
dc.identifier.urihttps://hdl.handle.net/20.500.11851/8722-
dc.descriptionArticle; Early Accessen_US
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.en_US
dc.description.sponsorshipScientific and Technological Research Council of Turkey (TUBITAK) [114S030]; Ankara University Scientific Research Projects Office [14L0415002]en_US
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).en_US
dc.language.isoenen_US
dc.publisherGeorg Thieme Verlag Kgen_US
dc.relation.ispartofJournal of Pediatric Geneticsen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectpediatric BCP-ALLen_US
dc.subjectmutationen_US
dc.subjectgene expressionen_US
dc.subjectNGSen_US
dc.subjectbiomarkeren_US
dc.subjectPax5 Haploinsufficiencyen_US
dc.subjectDna-Bindingen_US
dc.subjectAssociationen_US
dc.subjectMutationsen_US
dc.subjectExpressionen_US
dc.subjectAdulten_US
dc.subjectIkzf1en_US
dc.subjectActivationen_US
dc.subjectResistanceen_US
dc.subjectCrlf2en_US
dc.titleGenetic Profiling of Pediatric Patients With B-Cell Precursor Acute Lymphoblastic Leukemiaen_US
dc.typeArticleen_US
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.departmentFaculties, School of Medicine, Department of Internal Medical Sciencesen_US
dc.authoridAslar Oner, Deniz/0000-0002-9515-0073-
dc.authoridOzdag, Hilal/0000-0001-7940-2499-
dc.authoridakar, nejat/0000-0001-8228-8885-
dc.identifier.wosWOS:000753609000001en_US
dc.institutionauthorAkar, Mehmet Nejat-
dc.identifier.doi10.1055/s-0041-1742246-
dc.authorwosidAslar Oner, Deniz/I-5824-2014-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
item.openairetypeArticle-
item.languageiso639-1en-
item.grantfulltextnone-
item.fulltextNo Fulltext-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
Appears in Collections:Dahili Tıp Bilimleri Bölümü / Department of Internal Medical Sciences
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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