Siblings with ETV6/RUNX1-positive B-lymphoblastic leukemia: A single site experience and review of the literature

Ann Diagn Pathol. 2020 Oct:48:151588. doi: 10.1016/j.anndiagpath.2020.151588. Epub 2020 Aug 14.

Abstract

Siblings diagnosed with B-lymphoblastic leukemia (B-ALL) that share the same driver abnormality have been rarely described in the literature. Herein, we report three pairs of siblings (one non-identical pair, one maternal half-sibling pair, and one identical pair) all diagnosed with ETV6/RUNX1-positive B-ALL. Considering that ETV6/RUNX1 fusion is thought to represent a prenatal event and necessitates additional genomic alterations to result in leukemia, siblings of patient's with known ETV6/RUNX1-positive B-ALL may be at increased risk of ETV6/RUNX1-positive B-ALL due to common exposures (environmental or infectious) or shared germline polymorphisms.

Keywords: B-lymphoblastic leukemia (B-ALL); ETV6/RUNX1 fusion; Siblings.

Publication types

  • Review

MeSH terms

  • B-Lymphocytes / metabolism
  • B-Lymphocytes / pathology*
  • Biopsy
  • Bone Marrow / pathology
  • Child, Preschool
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • ETS Translocation Variant 6 Protein
  • Environment
  • Flow Cytometry / methods
  • Genomics
  • Humans
  • Male
  • Oncogene Proteins, Fusion / genetics
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Proto-Oncogene Proteins c-ets / genetics*
  • Repressor Proteins / genetics*
  • Siblings
  • Translocation, Genetic

Substances

  • Core Binding Factor Alpha 2 Subunit
  • Oncogene Proteins, Fusion
  • Proto-Oncogene Proteins c-ets
  • RUNX1 protein, human
  • Repressor Proteins