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Yayınlanmış 1 Ocak 2026 | Sürüm v1
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Status of <i>IKZF1</i> Deletions in Diagnose and Relapsed Pediatric B-ALL Patients

Oluşturanlar

  • 1. Istanbul Univ, Dept Genet, Aziz Sancar Inst Expt Med, TR-34093 Fatih, Istanbul, Turkiye
  • 2. Istanbul Univ, Istanbul Fac Med, Pediat Hematol Oncol Dept, Istanbul, Turkiye
  • 3. Istanbul Univ Cerrahpasa, Cerrahpasa Med Fac, Dept Pediat, Div Pediat Hematol Oncol, Istanbul, Turkiye
  • 4. Kocaeli Univ, Fac Med, Dept Pediat Hematol, Kocaeli, Turkiye
  • 5. Minist Hlth Sisli Etfal Educ & Res Hosp, Pediat Hematol Div, Istanbul, Turkiye
  • 6. Bezmialem Vakif Univ, Fac Med, Dept Biostat & Med Informat, Istanbul, Turkiye

Açıklama

IKZF1 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.

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