Abstract

To assess the prognostic effect of different levels of IKZF1 gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia (BCP–ALL). IKZF1 Δ2–8/ALB deletions were quantified using multiplex real-time quantitative PCR in newly diagnosed pediatric BCP–ALL patients. Seventy-four patients with IKZF1 deletions ≥ 0.01% were included. Clinical characteristics, laboratory data, and treatment outcomes were analyzed. The patients were divided into two groups: IKZF1 deletions <1% (group A) and ≥1% (group B). Group B patients had a higher BCR–ABL1 positive rate than group A patients. The proportions of patients who had an age at onset ≥10 years old, and white blood cell count ≥50 × 109/L were significantly higher in group B than in group A. The 3-year overall survival (OS) and 3-year event-free survival (EFS) rates in group B were 79 ± 8.8% and 62.4 ± 9.7%, respectively, being significantly lower than those in group A (97.7 ± 2.2% and 83.2 ± 5.8%, respectively). The level of IKZF1 deletions ≥1% and the central nervous system leukemia were independent risk factors of EFS. Pediatric BCP–ALL patients with high levels of IKZF1 gene deletions have a poorer prognosis than those with low levels.

Highlights

  • Acute lymphoblastic leukemia (ALL) is the most common childhood malignant cancer, with B-cell precursor ALL (BCP-ALL) accounting for approximately 80% of pediatric ALL cases

  • The application of molecular biological and cytogenetic techniques has revealed that the translocations t(9;22)/(BCR-ABL1), t(12;21)/(ETV6/RUNX1), and t(1;19)/(E2A/PBX1); rearrangements of the MLL gene; and hypodiploid or hypodiploid karyotypes in certain patients with ALL are associated with different prognoses

  • The patients were divided into two groups: IKZF1 Δ2–8/ALB deletions < 1% and ≥ 1%

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Summary

Introduction

Acute lymphoblastic leukemia (ALL) is the most common childhood malignant cancer, with B-cell precursor ALL (BCP-ALL) accounting for approximately 80% of pediatric ALL cases. The application of molecular biological and cytogenetic techniques has revealed that the translocations t(9;22)/(BCR-ABL1), t(12;21)/(ETV6/RUNX1), and t(1;19)/(E2A/PBX1); rearrangements of the MLL gene; and hypodiploid or hypodiploid karyotypes in certain patients with ALL are associated with different prognoses. Because of progress in chemotherapy regimens and the development of risk-adapted treatment protocols, the prognosis of ALL in children has significantly improved. The 5-year event-free survival (EFS) rate of pediatric ALL from developed countries can exceed 80% (Pui et al, 2014), but the remaining patients are still refractory/relapse with poor prognosis. Studies are currently focused on identifying high-risk ALL children in an early stage and carrying out the appropriate risk-adapted treatment to improve their prognosis

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