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An international study of intrachromosomal amplification of chromosome 21 (iAMP21): cytogenetic characterization and outcome

Lookup NU author(s): Professor Christine Harrison FRCPath FMedSci, Professor Anthony MoormanORCiD, Claire Schwab, Dr Lucy Chilton

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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.

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Author(s): Harrison CJ, Moorman AV, Schwab C, Carroll AJ, Raetz EA, Devidas M, Strehl S, Nebral K, Harbott J, Teigler-Schlegel A, Zimmerman M, Dastuge N, Baruchel A, Soulier J, Auclerc MF, Attarbaschi A, Mann G, Stark B, Cazzaniga G, Chilton L, Vandenberghe P, Forestier E, Haltrich I, Raimondi SC, Parihar M, Bourquin JP, Tchinda J, Haferlach C, Vora A, Hunger SP, Heerema NA, Haas OA

Publication type: Article

Publication status: Published

Journal: Leukemia

Year: 2013

Pages: 1-7

Print publication date: 22/11/2013

ISSN (print): 0887-6924

ISSN (electronic): 1476-5551

Publisher: Nature Publishing Group

URL: http://dx.doi.org/10.1038/leu.2013.317

DOI: 10.1038/leu.2013.317

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