Detection of New Translocation in Infant Twins with Concordant ALL and Discordant Outcome

Pediatr Rep. 2020 Dec 24;13(1):9-14. doi: 10.3390/pediatric13010002.


About 2-5% of acute lymphoblastic leukemia (ALL) cases in pediatric patients are infants with an unfavorable prognosis because of high relapse probability. Early detection of the disease is, therefore, very important. Despite the fact that leukemia in twins occurs rarely, more attention has been paid to it in genetic studies. In the present study, through cytogenetic testing, a special case of concordant ALL in monozygotic twins was presented with different outcomes. In spite of an acceptable initial consequence to medical treatment in twins, in another brother (Twin B), early relapse was observed. In the cytogenetic study, both twins expressed t (4; 11) (q21; q23) while twin A expressed t (2; 7) (p10; q10). No cases have previously reported this mutation. Whether this translocation has a protective role for leukemia with mixed-lineage leukemia (MLL) gene rearrangement is still unclear. The difference in the translocation identified in the identical twins is also subject to further investigations.

Keywords: MLL rearrangement; acute lymphoblastic leukemia (ALL); monozygotic twins; translocation.

Publication types

  • Case Reports