title: Insertion of chromosome 11 in chromosome 4 resulting in a 5'MLL-3'AF4 fusion gene in a case of adult acute lymphoblastic leukemia.
abstract: We report on a 69-year-old woman with B-lineage acute lymphoblastic leukemia. Cytogenetic studies at diagnosis with R banding showed an insertion, ins(4;11)(q21;q13q23). Fluorescence in situ hybridization (FISH) with whole chromosome painting probes confirmed the insertion of chromosome 11 material into chromosome 4. FISH using the MLL probe showed the translocation of the 5' end of MLL into chromosome 4. Since the 5'MLL-3'AF4 fusion transcript was detected by a reverse transcriptase polymerase chain reaction, we concluded that the insertion of part of chromosome 11 split the AF4 gene in two, resulting in the presence of the 5'MLL-3'AF4 fusion gene on the der(4) instead of the der(11), as commonly observed. Our findings stress the value of combining banding cytogenetics with FISH and molecular techniques to better assess rearrangements in leukemia.
authors.affiliation: Service de Cytogénétique, Cytologie et Biologie de la Reproduction, CHU Morvan, Brest, France.
authors.forename: Frédéric
authors.initials: F
authors.lastname: Morel
authors.forename: Marie-Josée
authors.initials: MJ
authors.lastname: Le Bris
authors.forename: Nathalie
authors.initials: N
authors.lastname: Douet-Guilbert
authors.forename: Jérôme
authors.initials: J
authors.lastname: Duchemin
authors.forename: Angèle
authors.initials: A
authors.lastname: Herry
authors.forename: Geneviève
authors.initials: G
authors.lastname: Le Calvez
authors.forename: Véronique
authors.initials: V
authors.lastname: Marion
authors.forename: Christian
authors.initials: C
authors.lastname: Berthou
authors.forename: Marc
authors.initials: M
authors.lastname: De Braekeleer
mesh_terms: D000368:Aged; D002880:Chromosomes, Human, Pair 11; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006801:Humans; D051788:Myeloid-Lymphoid Leukemia Protein; D015514:Oncogene Proteins, Fusion / Q000032:analysis*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: C113855:MLL-AF4 fusion protein, human; D015514:Oncogene Proteins, Fusion; D051788:Myeloid-Lymphoid Leukemia Protein