title: Acute myelomonocytic leukemia with t(10;11)(p13;q23): heterogeneity of breakpoints at 11q23 and association with recombinase activation.
abstract: The human trithorax homolog gene (MLL) is directly involved in over 90% of cases of acute leukemia with abnormalities of 11q23. However, involvement of other genes at 11q23 both centromeric and telomeric of MLL has been identified in different subtypes of leukemia and lymphoma. We describe a case of acute myelomonocytic leukemia (AMML; FAB type M4) with t(10;11)(p13;q23) in which the breakpoint at 11q23 was centromeric to the MLL gene and distinct from the breakpoint seen in promyelocytic leukemias with t(11;17)(q23;q22), thus providing further evidence of heterogeneity of breakpoints in 11q23 in acute leukemia. Rearrangements of immunoglobulin (IG) and T-cell receptor (TCR) genes were also observed, with no immunophenotypic evidence for commitment to the lymphoid lineages, indicating that inappropriate activation of the recombinases may be a feature of this particular variant translocation.
authors.affiliation: Academic Department of Haematology and Cytogenetics, Royal Marsden Hospital, London, United Kingdom.
authors.forename: S E
authors.initials: SE
authors.lastname: Height
authors.forename: M G
authors.initials: MG
authors.lastname: Dainton
authors.forename: L
authors.initials: L
authors.lastname: Kearney
authors.forename: G J
authors.initials: GJ
authors.lastname: Swansbury
authors.forename: E
authors.initials: E
authors.lastname: Matutes
authors.forename: M J
authors.initials: MJ
authors.lastname: Dyer
authors.forename: J G
authors.initials: JG
authors.lastname: Treleaven
authors.forename: R L
authors.initials: RL
authors.lastname: Powles
authors.forename: D
authors.initials: D
authors.lastname: Catovsky
mesh_terms: D000328:Adult; D002879:Chromosomes, Human, Pair 10; D002880:Chromosomes, Human, Pair 11; D004254:DNA Nucleotidyltransferases / Q000235:genetics*; D004273:DNA, Neoplasm / Q000032:analysis; D015321:Gene Rearrangement; D018740:Genetic Heterogeneity; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D019426:Integrases; D015479:Leukemia, Myelomonocytic, Acute / Q000235:genetics*; D008297:Male; D045522:Recombinases; D014178:Translocation, Genetic
chemical_list: D004273:DNA, Neoplasm; D045522:Recombinases; D004254:DNA Nucleotidyltransferases; D019426:Integrases; C115006:integron integrase IntI1