Status of IKZF1 deletions in diagnose and relapsed pediatric B-ALL patients

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dc.authorscopusidTülin Tiraje Celkan / 35584411200
dc.authorwosidTülin Tiraje Celkan / AAI-1729-2019
dc.contributor.authorErbilgin, Yücel
dc.contributor.authorFırtına, Sinem
dc.contributor.authorKırat, Elif
dc.contributor.authorKhodzhaev, Khusan
dc.contributor.authorKarakaş, Zeynep
dc.contributor.authorÜnüvar, Ayşegül
dc.contributor.authorOcak, Süheyla
dc.contributor.authorCelkan, Tülin Tiraje
dc.contributor.authorZengin, Emine
dc.contributor.authorAylan Gelen, Sema
dc.contributor.authorYıldırmak, Zeynep Yıldız
dc.contributor.authorToluk, Özlem
dc.contributor.authorHatırnaz Ng, Özden
dc.contributor.authorÖzbek, Uğur
dc.contributor.authorSayitoğlu, Müge
dc.date.accessioned2025-04-17T14:34:50Z
dc.date.available2025-04-17T14:34:50Z
dc.date.issued2025
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü
dc.description.abstractIKZF1 deletions (Delta IKZF1) are common in precursor B-cell acute lymphoblastic leukemia (B-ALL) and are assumed to have a prognostic impact. We aimed to determine the prognostic implications of Delta IKZF1 and CRLF2 overexpression in pediatric B-ALL. Furthermore, we sought to compare the multiplex polymerase chain reaction (PCR) assay with standard multiplex ligand-dependent probe amplification (MLPA) methods to ascertain IKZF1 status in a clinical context. Seventy-nine diagnoses and 43 relapse B-ALL samples were evaluated for deletions of IKZF1 Delta 2-7, Delta 4-7, and Delta 4-8 by conventional PCR and then sequenced by targeted sequencing. Subsequently, MLPA analysis was performed for Delta IKZF1 detection, and CRLF2 expression was evaluated in 42 diagnose time B-ALL patients by QRT-PCR. Delta IKZF1 was detected in 10 out of 79 diagnose samples (12.66%) and eight of the 43 first relapsed materials (18.60%). Our results revealed no association between survival outcomes with Delta IKZF1 or CRLF2 overexpression status in pediatric B-ALL patients. However, we found Delta IKZF1 was more frequent among relapsed samples, and the deletions showed consistency between diagnose-first/second relapse pairs of samples. These results suggest that Delta IKZF1 may contribute to the development of treatment failure in B-ALL. Furthermore, we demonstrated methodological adjustments in conventional PCR and MLPA for selected alterations in Delta IKZF1.
dc.description.sponsorshipIstanbul University
dc.identifier.citationErbilgin, Y., Firtina, S., Kirat, E., Khodzhaev, K., Karakas, Z., Ünüvar, A., ... & Sayitoglu, M. (2025). Status of IKZF1 Deletions in Diagnose and Relapsed Pediatric B-ALL Patients. Biochemical Genetics, 1-16.
dc.identifier.doi10.1007/s10528-024-11018-7
dc.identifier.issn0006-2928
dc.identifier.issn1573-4927
dc.identifier.pmid39786526
dc.identifier.scopus2-s2.0-85217377656
dc.identifier.scopusqualityQ2
dc.identifier.urihttp://dx.doi.org/10.1007/s10528-024-11018-7
dc.identifier.urihttps://hdl.handle.net/20.500.12713/6302
dc.identifier.wosWOS:001392653100001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorCelkan, Tülin Tiraje
dc.institutionauthoridTülin Tiraje Celkan / 0000-0001-7287-1276
dc.language.isoen
dc.publisherSpringer
dc.relation.ispartofBiochemical genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.relation.tubitak114S038
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectB-ALL
dc.subjectCRLF2
dc.subjectIKZF1
dc.subjectPrognosis
dc.titleStatus of IKZF1 deletions in diagnose and relapsed pediatric B-ALL patients
dc.typeArticle

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