Determination of CEBPA mutations by next generation sequencing in pediatric acute leukemia

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dc.contributor.authorAkin D.F.
dc.contributor.authorOner D.A.
dc.contributor.authorKurekci E.
dc.contributor.authorAkar N.
dc.date.accessioned2019-08-01T13:38:39Z
dc.date.available2019-08-01T13:38:39Z
dc.date.issued2018
dc.departmentNiğde ÖHÜ
dc.description.abstractOBJECTIVES: The CCAAT/enhancer-binding protein-alpha (CEBPA) is lineage-specific transcription factor in the hematopoietic system. In this study, we aimed on the clinical features and the prognostic significance associated with CEBPA mutations in 30 pediatric patients with acute leukemia. METHODS: In addition, the association between found variants and mutations of Ten-Eleven-Translocation 2 (TET2), Kirsten rat sarcoma viral oncogene homolog (KRAS), and Casitas B-cell lymphoma (CBL), FLT3 (Fms- Related Tyrosine Kinase), JAK2 (Januse Kinase-2) and Nucleophosmin 1 (NPM1) were analyzed, which are important prognostic risk factors for pediatric acute leukemia patients. The entire CEBPA coding region was screened using the NGS method. RESULTS: CEBPA mutations were detected in 16 (53.3 %) of 30 patients. In total, ten distinct of nucleotide changes were identified in 30 patients, including 6 novel and 4 known mutations by sequencing the entire CEBPA gene. We found 6 frame shift mutations, 1 missense mutation, 3 synonymous variants. The most common mutation was the c.487del G resulting p.Glu163Ser in 5 cases. Three patients carried CEBPA double mutations. CONCLUSION: The detected variants in this article seemed to be the first screening results of genes studied by NGS in pediatric acute leukemia patients. Our results also showed some degree of association between FLT3- ITD, TET2, KRAS, CBL and CEBPA mutations. © 2018, Comenius University.
dc.identifier.doi10.4149/BLL_2018_068
dc.identifier.endpage372
dc.identifier.issn0006-9248
dc.identifier.issue6
dc.identifier.pmid29947237
dc.identifier.scopus2-s2.0-85049229774
dc.identifier.scopusqualityQ3
dc.identifier.startpage366
dc.identifier.urihttps://dx.doi.org/10.4149/BLL_2018_068
dc.identifier.urihttps://hdl.handle.net/11480/1729
dc.identifier.volume119
dc.identifier.wosWOS:000436626500008
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthor[0-Belirlenecek]
dc.language.isoen
dc.publisherComenius University
dc.relation.ispartofBratislava Medical Journal
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectCEBPA
dc.subjectMolecular marker
dc.subjectMutation
dc.subjectNext generation sequencing
dc.subjectPediatric acute leukemia
dc.titleDetermination of CEBPA mutations by next generation sequencing in pediatric acute leukemia
dc.typeArticle

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