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Title: An international study of intrachromosomal amplification of chromosome 21 (iAMP21): cytogenetic characterization and outcome
Authors: Harrison, C J ×
Moorman, A V
Schwab, C
Carroll, A J
Raetz, E A
Devidas, M
Strehl, S
Nebral, K
Harbott, J
Teigler-Schlegel, A
Zimmerman, M
Dastuge, N
Baruchel, A
Soulier, J
Auclerc, M-F
Attarbaschi, A
Mann, G
Stark, B
Cazzaniga, G
Chilton, L
Vandenberghe, Peter
Forestier, E
Haltrich, I
Raimondi, S C
Parihar, M
Bourquin, J-P
Tchinda, J
Haferlach, C
Vora, A
Hunger, S P
Heerema, N A
Haas, O A #
Issue Date: May-2014
Publisher: Nature Publishing Group
Series Title: Leukemia vol:28 pages:1015-1021
Article number: 10.1038/leu.2013.317
Abstract: Intrachromosomal amplification of chromosome 21 (iAMP21) defines a distinct cytogenetic subgroup of childhood B-cell precursor acute lymphoblastic leukaemia (BCP-ALL). To date, fluorescence in situ hybridisation (FISH), with probes specific for the RUNX1 gene, provides the only reliable detection method (five or more RUNX1 signals per cell). Patients with iAMP21 are older (median age 9 years) with a low white cell count. Previously we demonstrated a high relapse risk when these patients were treated as standard risk. Recent studies have shown improved outcome on intensive therapy. In view of these treatment implications, accurate identification is essential. Here we have studied the cytogenetics and outcome of 530 iAMP21 patients, which highlighted the association of specific secondary chromosomal and genetic changes with iAMP21 to assist in diagnosis, including the gain of chromosome X, loss or deletion of chromosome 7, ETV6 and RB1 deletions. These iAMP21 patients when treated as high risk showed the same improved outcome as those in trial-based studies regardless of the backbone chemotherapy regimen given. This study reinforces the importance of intensified treatment to reduce the risk of relapse in iAMP21 patients. This now well defined patient subgroup should be recognised by WHO as a distinct entity of BCP-ALL.Leukemia accepted article preview online, 29 October 2013; doi:10.1038/leu.2013.317.
URI: 
ISSN: 0887-6924
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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