title: Rearrangement of the MLL gene in acute myeloblastic leukemia: report of two rare translocations.
abstract: Band 11q23 is known to be involved in translocations and insertions with a variety of partner chromosomes. They lead to MLL rearrangement, resulting in a fusion with numerous genes. We report here 2 male adults in whom a diagnosis of acute myelomonoblastic leukemia (FAB M4) and acute monoblastic leukemia (FAB M5) was made. Conventional cytogenetic techniques showed a 45,XY,t(1;11)(p32;q23),-7 karyotype in the first case and a 46,XY, t(11;17)(q23;q21) in the second case. Fluorescent in situ hybridization (FISH) with a specific MLL probe showed the gene to be disrupted, the 3' region being translocated on the derivative chromosomes 1 and 17, respectively. Fourteen and 24 patients, including ours, with acute myeloblastic leukemia associated with a t(1;11)(p32;q23) and a t(11;17)(q23;q21), respectively have been reported in the literature. Several patients with the latter translocation have also been identified to have acute lymphoblastic leukemia (ALL). Although both translocations are preferentially associated with monocytic differentiation, the t(11;17)(q23;q21) is more common in adults and has been reported in many patients with ALL, compared to the t(1;11)(p32;q23).
authors.affiliation: Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale 22, avenue Camille Desmoulins CS 93837, F-29238, Brest cedex 3, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Douet-Guilbert
authors.forename: Frédéric
authors.initials: F
authors.lastname: Morel
authors.forename: Marie-Josée
authors.initials: MJ
authors.lastname: Le Bris
authors.forename: Angèle
authors.initials: A
authors.lastname: Herry
authors.forename: Patrick
authors.initials: P
authors.lastname: Morice
authors.forename: Pascal
authors.initials: P
authors.lastname: Bourquard
authors.forename: Saïd
authors.initials: S
authors.lastname: Banzakour
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: D000328:Adult; D002878:Chromosomes, Human, Pair 1; D002880:Chromosomes, Human, Pair 11; D002886:Chromosomes, Human, Pair 17; D004268:DNA-Binding Proteins / Q000235:genetics*; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D051788:Myeloid-Lymphoid Leukemia Protein; D011519:Proto-Oncogenes / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D004268:DNA-Binding Proteins; C497422:KMT2A protein, human; D014157:Transcription Factors; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase