Concordant ETV6::RUNX1-positive acute lymphoblastic leukemia in monozygotic twins: a case report and review of the literature - Summary - MDSpire

Concordant ETV6::RUNX1-positive acute lymphoblastic leukemia in monozygotic twins: a case report and review of the literature

  • By

  • Xiaohua Li

  • Cuicui Wang

  • Jianchang Li

  • Chaoyue Liu

  • Weimei Sun

  • Yanjun Zhang

  • Jian Shi

  • June 18, 2026

  • 0 min

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Objective:

To report a case of concordant acute lymphoblastic leukemia in monozygotic twins and review literature on the mechanisms of leukemia development, highlighting its significance in understanding pediatric ALL.

Approach:
    Key Findings:
    • Both twins were diagnosed with acute lymphoblastic leukemia and tested positive for the ETV6::RUNX1 fusion gene, underscoring the genetic predisposition.
    • The case supports the 'in utero origin' and 'two-hit' hypotheses in pediatric ALL, suggesting environmental and genetic interactions.
    • Concordant leukemia in monozygotic twins is rare, with approximately 70 cases reported globally, emphasizing the need for further research.
    Interpretation:

    The findings contribute to understanding the genetic and environmental factors in the development of leukemia in twins.

    Limitations:
    • The study is based on a single case report with a limited sample size, which may not be representative of the broader population.
    • Long-term outcomes beyond the 2-year follow-up period are not addressed, highlighting the need for future studies to assess durability of remission.
    Conclusion:

    This case adds to the literature on concordant leukemia in twins and supports existing hypotheses regarding its origins, emphasizing the importance of further research in this area.

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