ETV6::RUNX1-positive acute lymphoblastic leukemia in identical twins
Overview
This case study reports two monozygotic twins diagnosed with ETV6::RUNX1-positive acute lymphoblastic leukemia (ALL). Both patients achieved complete remission following chemotherapy and have remained in remission for over two years, supporting the hypothesis of in utero origin of concordant leukemia in twins.
Background
Acute lymphoblastic leukemia (ALL) is the most prevalent pediatric malignancy, with a notable occurrence in monozygotic twins. The rarity of concordant leukemia in twins, particularly with the ETV6::RUNX1 fusion gene, underscores the need for further investigation into the genetic and environmental factors contributing to leukemia development.
Data Highlights
Patient
Age
Diagnosis
Fusion Gene
Remission Status
A
1 year 6 months
Common B-ALL
ETV6::RUNX1
Complete remission
B
1 year 9 months
Common B-ALL
ETV6::RUNX1
Complete remission
Key Findings
Both twins were diagnosed with B-cell acute lymphoblastic leukemia and tested positive for the ETV6::RUNX1 fusion gene.
Patient A presented with severe anemia and hepatosplenomegaly, while Patient B had milder symptoms.
Both patients received chemotherapy according to the CCLG-ALL-2018 protocol and achieved complete remission.
They have maintained continuous complete remission for over 2 years post-treatment.
This case supports the in utero origin hypothesis for concordant leukemia in twins.
Clinical Implications
The findings highlight the importance of genetic screening for ETV6::RUNX1 in pediatric patients presenting with leukemia symptoms, especially in twins. Clinicians should consider the implications of shared genetic factors in treatment planning and follow-up care.
Conclusion
This case study reinforces the significance of genetic predisposition in pediatric ALL and the potential for successful treatment outcomes in concordant cases among twins.
