1. Status of IKZF1 Deletions in Diagnose and Relapsed Pediatric B-ALL Patients.
- Author
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Erbilgin Y, Firtina S, Kirat E, Khodzhaev K, Karakas Z, Ünüvar A, Ocak S, Celkan TT, Zengin E, Aylan Gelen S, Yildirmak ZY, Toluk O, Hatirnaz Ng O, Ozbek U, and Sayitoglu M
- Abstract
IKZF1 deletions (ΔIKZF1) 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 ΔIKZF1 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 Δ2-7, Δ4-7, and Δ4-8 by conventional PCR and then sequenced by targeted sequencing. Subsequently, MLPA analysis was performed for ΔIKZF1 detection, and CRLF2 expression was evaluated in 42 diagnose time B-ALL patients by QRT-PCR. ΔIKZF1 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 ΔIKZF1 or CRLF2 overexpression status in pediatric B-ALL patients. However, we found ΔIKZF1 was more frequent among relapsed samples, and the deletions showed consistency between diagnose-first/second relapse pairs of samples. These results suggest that ΔIKZF1 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 ΔIKZF1., Competing Interests: Declarations. Conflict of interest: The authors declare no competing financial interests. Ethical Approval: The study was approved by the Ethical Committee of Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey (Number: 2020/124). Written informed consents were obtained from patients and/or their parent(s)/legal guardian(s)., (© 2025. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
- Published
- 2025
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