Prognostic gene alterations and clonal changes in childhood B-ALL

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dc.authoridSinem Fırtına / 0000-0002-3370-8545en_US
dc.authorscopusidSinem Fırtına / 16642650000
dc.authorwosidSinem Fırtına / X-8520-2018
dc.contributor.authorErbilgin, Yücel
dc.contributor.authorFırtına, Sinem
dc.contributor.authorMercan, Sevcan
dc.contributor.authorNg, Özden Hatırnaz
dc.contributor.authorKaraman, Serap
dc.contributor.authorTaşar, Orçun
dc.contributor.authorKarakaş Zeybek, Didem
dc.contributor.authorCelkan, Tulin Tiraje
dc.contributor.authorZengin, Emine
dc.contributor.authorSarper, Nazan
dc.contributor.authorYildirmak, Zeynep Yildiz
dc.contributor.authorŞişko, Sinem
dc.contributor.authorÖzbek, Uğur
dc.contributor.authorSayitoğlu, Müge
dc.date.accessioned2020-08-30T20:06:40Z
dc.date.available2020-08-30T20:06:40Z
dc.date.issued2019
dc.departmentİstinye Üniversitesi, Mühendislik ve Doğa Bilimleri Fakültesi, Moleküler Biyoloji ve Genetik Bölümüen_US
dc.description.abstractGenomic profiles of leukemia patients lead to characterization of variations that provide the molecular classification of risk groups, prediction of clinical outcome and therapeutic decisions. In this study, we examined the diagnostic (n = 77) and relapsed (n = 31) pediatric B-cell acute lymphoblastic leukemia (B-ALL) samples for the most common leukemia-associated gene variations CRLF2, JAK2, PAX5 and IL7R using deep sequencing and copy number alterations (CNAs) (CDKN2A/2B, PAX5, RB1, BTG1, ETV6, CSF2RA, IL3RA and CRLF2) by multiplex ligation proximity assay (MLPA), and evaluated for the clonal changes through relapse. Single nucleotide variations SNVs were detected in 19% of diagnostic 15.3% of relapse samples. The CNAs were detected in 55% of diagnosed patients; most common affected genes were CDKN2A/2B, PAX5, and CRLF2. Relapse samples did not accumulate a greater number of CNAs or SNVs than the cohort of diagnostic samples, but the clonal dynamics showed the accumulation/disappearance of specific gene variations explained the course of relapse. The CDKN2A/2B were most frequently altered in relapse samples and 32% of relapse samples carried at least one CNA. Moreover, CDKN2A/2B alterations and/or JAK2 variations were associated with decreased relapse-free survival. On the other hand, CRLF2 copy number alterations predicted a better survival rate in B-ALL. These findings contribute to the knowledge of CDKN2A/2B and CRLF2 alterations and their prognostic value in B-ALL. The integration of genomic data in clinical practice will enable better stratification of ALL patients and allow deeper understanding of the nature of relapse.en_US
dc.description.sponsorshipScientific Research Projects Coordination Unit of Istanbul UniversityIstanbul University [48096, TDP-2016-20520]en_US
dc.description.sponsorshipThis work supported by the Scientific Research Projects Coordination Unit of Istanbul University (Project no. 48096 and TDP-2016-20520) and the authors would like to thank the Interlaboratory Robustness of Next-Generation Sequencing Phase II study group members. Khusan Khodzhaev assisted in figures preperation. We highly appreciate the efforts of Monica Özkan, MSN, RN in language editing of this paper.en_US
dc.identifier.citationErbilgin, Y., Firtina, S., Mercan, S., Ng, O. H., Karaman, S., Tasar, O., ... & Yildirmak, Z. Y. (2019). Prognostic gene alterations and clonal changes in childhood B-ALL. Leukemia research, 83, 106159.en_US
dc.identifier.doi10.1016/j.leukres.2019.05.009en_US
dc.identifier.issn0145-2126en_US
dc.identifier.issn1873-5835en_US
dc.identifier.pmid31228652en_US
dc.identifier.scopus2-s2.0-85067508278en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.1016/j.leukres.2019.05.009
dc.identifier.urihttps://hdl.handle.net/20.500.12713/589
dc.identifier.volume83en_US
dc.identifier.wosWOS:000474694900008en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorFırtına, Sinemen_US
dc.language.isoenen_US
dc.publisherPergamon-Elsevier Science Ltden_US
dc.relation.ispartofLeukemia Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectB-ALLen_US
dc.subjectSingle Nucleotide Variationen_US
dc.subjectCopy Number Alterationen_US
dc.subjectRelapseen_US
dc.titlePrognostic gene alterations and clonal changes in childhood B-ALLen_US
dc.typeArticleen_US

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