Recent advances in genetic predisposition to pediatric acute lymphoblastic leukemia

Expert Rev Hematol. 2020 Jan;13(1):55-70. doi: 10.1080/17474086.2020.1685866. Epub 2019 Nov 19.


Introduction: Historically, the majority of childhood cancers, including acute lymphoblastic leukemia (ALL), were not thought to have a hereditary basis. However, recent germline genomic studies have revealed that at least 5 - 10% of children with cancer (and approximately 3 - 4% of children with ALL) develop the disease due to an underlying genetic predisposition.Areas covered: This review discusses several recently identified ALL predisposing conditions and provides updates on other more well-established syndromes. It also covers topics related to the evaluation and management of children and family members at increased ALL risk.Expert opinion: Germline predisposition is gaining recognition as an important risk factor underlying the development of pediatric ALL. The challenge now lies in how best to capitalize on germline genetic information to improve ALL diagnosis, treatment, and perhaps even prevention.

Keywords: Acute lymphoblastic leukemia (ALL); familial studies; genetic predisposition; genome wide association studies (GWAS); hematologic malignancy; transcription factors.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review
  • Video-Audio Media

MeSH terms

  • Child
  • Genetic Predisposition to Disease*
  • Genetic Testing*
  • Humans
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / diagnosis*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / epidemiology
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / prevention & control
  • Risk Factors