title: Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Français de Cytogénétique Hématologique.
abstract: Chromosome 21 is frequently rearranged in hematopoietic malignancies. In order to detect new chromosomal aberrations, the Groupe Français de Cytogénétique Hématologique collected a series of 107 patients with various hematologic disorders and acquired structural abnormalities of the long arm of chromosome 21. The abnormalities were subclassified into 10 groups, according to the location of the 21q breakpoint and the type of abnormality. Band 21q22 was implicated in 72 patients (excluding duplications, triplications, and amplifications). The involvement of the RUNX1 gene was confirmed in 10 novel translocations, but the gene partners were not identified. Eleven novel translocations rearranging band 21q22 with bands 1q25, 2p21, 2q37, 3p21, 3p23, 4q31, 6p24 approximately p25, 6p12, 7p15, 16p11, and 18q21 were detected. Rearrangements of band 21q11 and 21q21 were detected in six novel translocations with 5p15, 6p21, 15q21, 16p13, and 20q11 and with 1p33, 3q27, 5p14, 11q11, and 14q11, respectively. Duplications, triplications, amplifications, and isodicentric chromosomes were detected in eight, three, eight, and three patients, respectively. The present study shows both the wide distribution of the breakpoints on the long arm of chromosome 21 in hematopoietic malignancy and the diversity of the chromosomal rearrangements and the hematologic disorders involved. The findings invite further investigation of the 21q abnormalities to detect their associated molecular rearrangements.
authors.affiliation: Laboratoire de Génétique, Centre Hospitalier de Mulhouse, 20 rue du Docteur Laennec, BP130, 68070, Mulhouse Cedex, France. jeandidier@ch-mulhouse.fr
authors.forename: Eric
authors.initials: E
authors.lastname: Jeandidier
authors.forename: Nicole
authors.initials: N
authors.lastname: Dastugue
authors.forename: Francine
authors.initials: F
authors.lastname: Mugneret
authors.forename: Marina
authors.initials: M
authors.lastname: Lafage-Pochitaloff
authors.forename: Marie-Joëlle
authors.initials: MJ
authors.lastname: Mozziconacci
authors.forename: Christian
authors.initials: C
authors.lastname: Herens
authors.forename: Lucienne
authors.initials: L
authors.lastname: Michaux
authors.forename: Christine
authors.initials: C
authors.lastname: Verellen-Dumoulin
authors.forename: Pascaline
authors.initials: P
authors.lastname: Talmant
authors.forename: Pascale
authors.initials: P
authors.lastname: Cornillet-Lefebvre
authors.forename: Isabelle
authors.initials: I
authors.lastname: Luquet
authors.forename: Christiane
authors.initials: C
authors.lastname: Charrin
authors.forename: Carole
authors.initials: C
authors.lastname: Barin
authors.forename: Marie-Agnès
authors.initials: MA
authors.lastname: Collonge-Rame
authors.forename: Christine
authors.initials: C
authors.lastname: Pérot
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Van den Akker
authors.forename: Marie-José
authors.initials: MJ
authors.lastname: Grégoire
authors.forename: P
authors.initials: P
authors.lastname: Jonveaux
authors.forename: Laurence
authors.initials: L
authors.lastname: Baranger
authors.forename: Virginie
authors.initials: V
authors.lastname: Eclache-Saudreau
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Pagès
authors.forename: Christine
authors.initials: C
authors.lastname: Cabrol
authors.forename: Christine
authors.initials: C
authors.lastname: Terré
authors.forename: Roland
authors.initials: R
authors.lastname: Berger
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D003299:Cooperative Behavior; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D005260:Female; D005602:France / Q000453:epidemiology; D006402:Hematologic Diseases / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D014178:Translocation, Genetic
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human