title: Del(5q) and MLL amplification in homogeneously staining region in acute myeloblastic leukemia: a recurrent cytogenetic association.
abstract: We report here a 71 year-old female presenting with acute myeloblastic leukemia (FAB-M1) after treatment of essential thrombocythemia with Vercyte. Conventional cytogenetic techniques showed a complex karyotype, 44,XX,-5,-7,-11,add(11)(q23),-14,+mar,+r. The use of several fluorescent in situ hybridizations (FISH) lead to the identification of these complex rearrangements. The marker was found to be tricentric, with pericentromeric material of chromosome 7 inserted in the short arm of chromosome 5, resulting in monosomy 5q and 7q. The derivative chromosome 11 was dicentric and had subtelomeric sequences of 11p on both ends; several copies of the MLL gene were located in two different regions separated by a centromere of chromosome 11. Twenty-one cases, including ours, of myelodysplastic syndromes and acute myelogenous leukemia with MLL amplification present in hsr or dmin were found in the literature. Most of these patients shared some characteristics: they were old, they had de novo acute myeloid leukemia (AML) with a complex karyotype and a short survival, 90% of them having also a del(5q). Therefore, the simultaneous presence of MLL amplification and del(5q) appears to be a nonrandom association that could be the signature of AML in elderly patients with a poor prognosis.
authors.affiliation: Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France.
authors.forename: Angèle
authors.initials: A
authors.lastname: Herry
authors.forename: Nathalie
authors.initials: N
authors.lastname: Douet-Guilbert
authors.forename: Nadia
authors.initials: N
authors.lastname: Guéganic
authors.forename: Frédéric
authors.initials: F
authors.lastname: Morel
authors.forename: Marie-Josée
authors.initials: MJ
authors.lastname: Le Bris
authors.forename: Christian
authors.initials: C
authors.lastname: Berthou
authors.forename: Marc
authors.initials: M
authors.lastname: De Braekeleer
mesh_terms: D000368:Aged; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D020732:Cytogenetic Analysis; D017809:Fatal Outcome; D005260:Female; D005784:Gene Amplification; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D015122:Mercaptopurine / Q000627:therapeutic use; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics*; D010885:Pipobroman / Q000627:therapeutic use; D011379:Prognosis; D012680:Sensitivity and Specificity; D013922:Thrombocytosis / Q000175:diagnosis / Q000188:drug therapy
chemical_list: C497422:KMT2A protein, human; D051788:Myeloid-Lymphoid Leukemia Protein; D010885:Pipobroman; D015122:Mercaptopurine; D011495:Histone-Lysine N-Methyltransferase