title: A subtle t(3;8) results in plausible juxtaposition of MYC and BCL6 in a child with Burkitt lymphoma/leukemia and ataxia-telangiectasia.
abstract: Translocations involving 3q27 that affect the BCL6 gene are common and specific chromosomal abnormalities in B-cell precursor non-Hodgkin lymphoma (mainly diffuse large-cell and follicular lymphoma), but they have not been reported in Burkitt lymphoma. Here, we describe a case in which a BCL6 rearrangement and additional complex cytogenetic abnormalities occurred in a child with Burkitt lymphoma/leukemia and ataxia-telangiectasia. Although cytogenetic analysis of the bone marrow revealed clonal abnormalities of chromosome arms 8q and 14p and other subclonal abnormalities, the t(8;14) or its variants typically associated with Burkitt lymphoma were not observed. Fluorescence in situ hybridization with locus-specific probes and multicolor spectral karyotyping demonstrated a complex pattern of chromosomal rearrangements leading to a subtle t(3;8)(q27;q24.1) that rearranged BCL6 and placed it adjacent to MYC. We speculate that this genetic lesion occurred as a result of chromosomal instability due to the underlying disease.
authors.affiliation: Department of Hematology/Oncology, St. Jude Children's Research Hospital, 332 North Lauderdale Street, Memphis, TN 38105, USA. john.sandlund@stjude.org
authors.forename: John T
authors.initials: JT
authors.lastname: Sandlund
authors.forename: Michael B
authors.initials: MB
authors.lastname: Kastan
authors.forename: Wren
authors.initials: W
authors.lastname: Kennedy
authors.forename: Frederick
authors.initials: F
authors.lastname: Behm
authors.forename: Elaine
authors.initials: E
authors.lastname: Entrekin
authors.forename: Ching-Hon
authors.initials: CH
authors.lastname: Pui
authors.forename: David T
authors.initials: DT
authors.lastname: Kalwinsky
authors.forename: Susana C
authors.initials: SC
authors.lastname: Raimondi
mesh_terms: D001260:Ataxia Telangiectasia / Q000150:complications / Q000235:genetics*; D002051:Burkitt Lymphoma / Q000150:complications / Q000235:genetics*; D002648:Child; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D016259:Genes, myc; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D051560:Proto-Oncogene Proteins c-bcl-6; D014178:Translocation, Genetic / Q000235:genetics
chemical_list: C084103:BCL6 protein, human; D004268:DNA-Binding Proteins; D051560:Proto-Oncogene Proteins c-bcl-6