About this Medicine article

Intrachromosomal amplification of chromosome 21 (iAMP21) may arise from a breakage–fusion–bridge cycle by Hazel M. Robinson; Christine J. Harrison; Anthony V. Moorman; Ilse Chudoba; Jonathan C. Strefford is a Medicine article available to read on EtoBox.

## Abstract Intrachromosomal amplification of chromosome 21 (iAMP21), involving amplification of the __RUNX1__ gene and duplication of chromosome 21, dup(21q), defines a new cytogenetic subgroup in B‐lineage acute lymphoblastic leukemia (ALL) with a poor prognosis. Characterization of this abnormality has become vital to ensure that the most accurate detection method is used. We have previously defined common regions of amplification and deletion of chromosome 21 in these patients, although the level and extent of amplification within the amplicon was highly variable. This study, using interphase fluorescence in situ hybridization (FISH) with chromosome 21 locus specific probes, substantiated these findings in a large series of patients and confirmed that the amplicon always included __RUNX1__. Thus, FISH with probes directed to the __RUNX1__ gene remains the most reliable detection method. Metaphase FISH, supported by G‐ and multiple color chromosomal banding (mBAND) revealed the patient specific morphology and genetic profile of the dup(21q) chromosomes, as well as the complexity of the intrachromosomal changes giving rise to them. These findings suggested that iAMP21 had arisen

Author

Hazel M. Robinson; Christine J. Harrison; Anthony V. Moorman; Ilse Chudoba; Jonathan C. Strefford

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1045-2257)

Published

2007

Language

EN

Field

Medicine (Life Sciences)