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An international study of intrachromosomal amplification of chromosome 21 (iAMP21): cytogenetic characterization and outcome
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2014 (English)In: Leukemia, ISSN 0887-6924, E-ISSN 1476-5551, Vol. 28, no 5, 1015-1021 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2014. Vol. 28, no 5, 1015-1021 p.
Keyword [en]
iAMP21, genetics, outcome, poor prognosis, BCP-ALL, chromosomal abnormalities
National Category
Medical Genetics
URN: urn:nbn:se:umu:diva-90864DOI: 10.1038/leu.2013.317ISI: 000336661500005OAI: diva2:734233
Available from: 2014-07-15 Created: 2014-07-01 Last updated: 2014-07-15Bibliographically approved

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Forestier, Erik
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