- •Novel translocation t(5;11)(q35;q23) detected in the context of de novo infant ALL.
- •RNA sequencing performed via our institutional childhood cancer sequencing (KiCS) program confirmed translocation t(5;11)(q35;q23) resulting in the formation of KMT2A-MAML1 gene fusion. The breakpoints were 11q23 and 5q35, wherein no KMT2A partner genes have been previously reported.
- •Patient continues to be in remission 22 months from diagnosis, but longer-term follow-up will be essential to determine prognostic significance.
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- Biological and therapeutic aspects of infant leukemia.Blood. 2000; 96: 24-33
- Infant acute lymphoblastic leukemia: combined cytogenetic, immunophenotypical and molecular analysis of 77 cases.Leukemia. 2002; 16 (http://): 1685-1690https://doi.org/10.1038/sj.leu.2402595
- Improved outcome with hematopoietic stem cell transplantation in a poor prognostic subgroup of infants with mixed -lineage -leukemia (MLL)-rearranged acute lymphoblastic leukemia: results from the Interfant -99 Study.Blood. 2010; 116 (https://DOI:): 2644-2650https://doi.org/10.1182/blood-2010-03-273532
- Hijacked in cancer: the KMT2A(MLL) family of methyltransferases.Nat Rev Cancer. 2015; 15 (http://DOI:): 334-346https://doi.org/10.1038/nrc3929
- RUNX1 is a key target in t(4,11) leukemias that contributes to gene activation through an AF4-MLL complex interaction.Cell Rep. 2013; 3 (http://DOI:): 116-127https://doi.org/10.1016/j.celrep.2012.12.016
Winters AC and Bernt KM. MLL -rearranged leukemias-an update on science and clinical approaches. Front.Pediatr. 5: 4. http://DOI:10.3389/fped.2017.00004.
- The MLL recombinome of acute leukemias in 2017.Leukemia. 2018; 32 (http://DOI:): 273-284https://doi.org/10.1038/leu.2017.213
- Outcome of infants younger than 1 year with acute lymphoblastic leukaemia treated with the interfant-06 protocol: results from an international phase III randomized study..JCO. 2019; 37 (http://DOI:): 2246-2256https://doi.org/10.1200/JCO.19.00261
- Identification of a novel fusion gene MLL-MAML2 in secondary acute myelogenous leukemia and myelodysplastic syndrome with inv(11)(q23q23).Genes Chromosomes Cancer. 2007; 46 (http://DOI:): 813-819https://doi.org/10.1002/gcc.20467
- First case of B ALL with KMT2A -MAML2 rearrangement: a case report.BMC Cancer. 2017; 17 (http:// DOI:): 363https://doi.org/10.1186/s12885-017-3368-4
- The notch regulator MAML1 interacts with p53 and functions as a coactivator.J Biol Chem. 2007; 282 (http://DOI:): 11969-11981https://doi.org/10.1074/jbc.M608974200
- Mastermind-1 is required for Notch signal-dependent steps in lymphocyte development in vivo.Proc Natl Acad Sci US A. 2007; 104 (http://DOI:): 9764-9769https://doi.org/10.1073/pnas.0700240104
- Knockdown of MAML1 inhibits proliferation and induces apoptosis of T -cell acute lymphoblastic leukaemia cells through SP-1 dependent inactivation of TRIM59.J Cell Physiol. 2019; 234 (http://DOI:): 5186-5195https://doi.org/10.1002/jcp.27323