@article{6839a8af9ae9414495d0c13c7b3e2493,
title = "An international study of intrachromosomal amplification of chromosome 21 (iAMP21): Cytogenetic characterization and outcome",
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 that 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 World Health Organisation (WHO) as a distinct entity of BCP-ALL.",
keywords = "BCP-ALL, chromosomal abnormalities, genetics, iAMP21, outcome, poor prognosis",
author = "Harrison, {C. J.} and Moorman, {A. V.} and C. Schwab and Carroll, {A. J.} and Raetz, {E. A.} and M. Devidas and S. Strehl and K. Nebral and J. Harbott and A. Teigler-Schlegel and M. Zimmerman and N. Dastuge and A. Baruchel and J. Soulier and Auclerc, {M. F.} and A. Attarbaschi and G. Mann and B. Stark and G. Cazzaniga and L. Chilton and P. Vandenberghe and E. Forestier and I. Haltrich and Raimondi, {S. C.} and M. Parihar and Bourquin, {J. P.} and J. Tchinda and C. Haferlach and A. Vora and Hunger, {S. P.} and Heerema, {N. A.} and Haas, {O. A.}",
note = "Funding Information: We thank the member laboratories of the UK Cancer Cytogenetics Group, the National Cancer Research Institute and Childhood Leukaemia Subgroup, UK, those cytogenetics laboratories contributing to the COG trails in the United States and all other participating cytogenetics laboratories and treating physicians worldwide. We are grateful for financial support from Leukaemia and Lymphoma Research, Grants CA13539 and CA98543 from the National Institutes of Health to the COG, Swedish Childhood Cancer Foundation, FWO-Vlaanderen, Vlaamse liga tegen Kanker and NKP 29-020, Jubil{\"a}msfonds {\"O}sterreichische Nationalbank ({\"O}NB No. 14133).",
year = "2014",
month = may,
doi = "10.1038/leu.2013.317",
language = "אנגלית",
volume = "28",
pages = "1015--1021",
journal = "Leukemia",
issn = "0887-6924",
publisher = "Springer Nature",
number = "5",
}
