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Perforin gene variation influences survival in childhood acute lymphoblastic leukemia

Aleksandra Jaworowska1, Agata Pastorczak1, Joanna Trelinska1

  • 1Department of Pediatrics, Oncology, Hematology and Diabetology, Medical University of Lodz, Lodz, Poland.

Leukemia Research
|January 6, 2018
PubMed

Insights

Perforin gene variations impact childhood acute lymphoblastic leukemia (ALL) survival. Specific PRF1 gene variants, like rs885822, increase mortality risk, particularly in high-risk ALL patients.

Area of Science:

  • Immunogenetics
  • Pediatric Oncology
  • Molecular Biology

Background:

  • Perforin gene mutations are linked to hematologic malignancies.
  • The clinical impact of perforin gene variations in acute lymphoblastic leukemia (ALL) remains understudied.

Purpose of the Study:

  • To investigate the association between perforin gene (PRF1) variants and clinical outcomes in childhood ALL patients.
  • To determine if PRF1 gene variations influence overall survival and relapse-free survival in pediatric ALL.

Main Methods:

  • Direct DNA sequencing of the PRF1 gene in 312 children (aged 1-18) treated for ALL.
  • Analysis of specific variants, including rs885822 and rs35947132, and their correlation with survival data.

Main Results:

  • The rs885822 GG genotype was associated with a significantly increased risk of death (HR 3.13), especially in high-risk ALL (p=0.006).
  • The rs35947132 minor A allele showed a slight protective effect on overall prognosis (p=0.047).
  • No significant differences in relapse-free survival were observed based on PRF1 genotypes.

Conclusions:

  • Perforin gene variations may play a role in modulating mortality risk in childhood ALL.
  • Genetic screening of PRF1 variants could potentially inform prognostic assessments in pediatric ALL.

Keywords:
Acute lymphoblastic leukemiaPediatricPerforinSurvival

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