title: Identical abnormality of the short arm of chromosome 18 in two Philadelphia-positive chronic myelocytic leukemia patients with erythroblastic transformation, resulting in duplication of BCR-ABL1 fusion.
abstract: Two patients with Ph-positive chronic myelocytic leukemia in erythroblastic transformation and rearrangement of the short arm of chromosome 18 are reported. Fluorescence in situ hybridization studies showed that the 18p rearrangement resulted from translocation of the main part of chromosome 22 long arm to 18p, including BCR-ABL1 fusion. The 18p abnormality resulted, thus, in loss of 18p and duplication of BCR-ABL1 in both patients. The possible relation to the erythroblastic type of blastic phase is briefly discussed. In addition an apparently intact germline ABL1 gene was duplicated and inserted into chromosome 6 at band p21 in one of these patients.
authors.affiliation: Service d'Hématologie Biologique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France. florence.nguyen@psl.ap-hop-paris.fr
authors.forename: Florence
authors.initials: F
authors.lastname: Nguyen Khac
authors.forename: Marie Christine
authors.initials: MC
authors.lastname: Waill
authors.forename: Serge P
authors.initials: SP
authors.lastname: Romana
authors.forename: Isabelle
authors.initials: I
authors.lastname: Radford-Weiss
authors.forename: Maryvonne
authors.initials: M
authors.lastname: Busson
authors.forename: Marie Agnès
authors.initials: MA
authors.lastname: Collonge-Rame
authors.forename: Antoine
authors.initials: A
authors.lastname: Ribadeau-Dumas
authors.forename: Marie-Claude
authors.initials: MC
authors.lastname: Piffaut
authors.forename: Marie-Thérèse
authors.initials: MT
authors.lastname: Daniel
authors.forename: Frédéric
authors.initials: F
authors.lastname: Davi
authors.forename: Hélène
authors.initials: H
authors.lastname: Merle-Béral
authors.forename: Roland
authors.initials: R
authors.lastname: Berger
authors.forename: Michel
authors.initials: M
authors.lastname: Arock
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002471:Cell Transformation, Neoplastic; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004912:Erythrocytes / Q000473:pathology*; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000473:pathology*; D008875:Middle Aged; D014178:Translocation, Genetic
chemical_list: D016044:Fusion Proteins, bcr-abl