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.
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.
Jeandidier
Eric
E
Laboratoire de Génétique, Centre Hospitalier de Mulhouse, 20 rue du Docteur Laennec, BP130, 68070, Mulhouse Cedex, France. jeandidier@ch-mulhouse.fr
Dastugue
Nicole
N
Mugneret
Francine
F
Lafage-Pochitaloff
Marina
M
Mozziconacci
Marie-Joëlle
MJ
Herens
Christian
C
Michaux
Lucienne
L
Verellen-Dumoulin
Christine
C
Talmant
Pascaline
P
Cornillet-Lefebvre
Pascale
P
Luquet
Isabelle
I
Charrin
Christiane
C
Barin
Carole
C
Collonge-Rame
Marie-Agnès
MA
Pérot
Christine
C
Van den Akker
Jacqueline
J
Grégoire
Marie-José
MJ
Jonveaux
P
P
Baranger
Laurence
L
Eclache-Saudreau
Virginie
V
Pagès
Marie-Pierre
MP
Cabrol
Christine
C
Terré
Christine
C
Berger
Roland
R
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
D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human