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May 8, 2026Cancer Epidemiology Biomarkers & Prevention

Characterization of Genetic Etiological Factors for Pediatric Acute Lymphoblastic Leukemia in Large Childhood Cancer Survivorship Cohorts

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Authors

XMXiaoxi MengCCC J ChenNQNa Qin

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Overview

Randomized trial reveals genetic risk factors for pediatric acute lymphoblastic leukemia, indicating new avenues for understanding susceptibility.

Key Points

  • This study aims to characterize the genetic factors associated with pediatric acute lymphoblastic leukemia (pALL).
  • Analyzed germline genetic data from 3,208 pALL survivors, 7,821 non-pALL survivors, and 377 non-cancer controls.
  • Evaluated enrichment of ultra-rare cancer predisposing variants in cancer predisposition genes.
  • Conducted a genome-wide association study meta-analysis for common and low-frequency variants.
  • pALL survivors showed significant enrichment of ultra-rare CPVs in genes such as BRCA1, PALB2, and PTPN11.
  • Seven loci achieved genome-wide significance (P < 5 × 10⁻⁸) with notable risk alleles identified.
  • Median polygenic risk score was significantly higher in pALL survivors compared to non-pALL survivors and non-cancer controls (P = 6.64 × 10⁻¹⁴⁷).

Cite This Study

Meng et al. (2026) studied this question.

synapsesocial.com/papers/69fd7f65bfa21ec5bbf07f51https://doi.org/10.1158/1055-9965.epi-26-0156
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Germline variants in patients developing second malignant neoplasms after therapy for pediatric acute lymphoblastic leukemia—a case-control study2024 · 8 citations
  2. 2Germline Pathogenic/Likely Pathogenic Mutations and Subsequent Neoplasms Among Childhood Cancer Survivors: A Report From the Children's Oncology Group ALTE03N1 Study2025 · 3 citations
  3. 3Abstract 6155: Germline variants in cancer susceptibility genes and subsequent neoplasm risks after childhood cancer: A pooled analysis of two large-scale cohorts2024
  4. 4The evolutionary impact of childhood cancer on the human gene pool2024 · 16 citations
  5. 5Abstract 6372: Germline pathogenic variants are enriched in pediatric central nervous system tumor patients and associate with somatic functional consequences2024