PMID- 17243167
OWN - NLM
STAT- MEDLINE
DCOM- 20070418
LR  - 20070212
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 46
IP  - 4
DP  - 2007 Apr
TI  - Intrachromosomal amplification of chromosome 21 (iAMP21) may arise from a 
      breakage-fusion-bridge cycle.
PG  - 318-26
AB  - 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 from a 
      breakage-fusion-bridge cycle: a mechanism previously described in tumors, which 
      we report for the first time in ALL.
CI  - (c) 2007 Wiley-Liss, Inc.
FAU - Robinson, Hazel M
AU  - Robinson HM
AD  - Leukaemia Research Cytogenetics Group, Cancer Sciences Division, University of 
      Southampton, Southampton, UK.
FAU - Harrison, Christine J
AU  - Harrison CJ
FAU - Moorman, Anthony V
AU  - Moorman AV
FAU - Chudoba, Ilse
AU  - Chudoba I
FAU - Strefford, Jonathan C
AU  - Strefford JC
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
SB  - IM
MH  - *Chromosome Breakage
MH  - Chromosomes, Human, Pair 21/*genetics
MH  - Humans
MH  - Translocation, Genetic/*physiology
EDAT- 2007/01/24 09:00
MHDA- 2007/04/19 09:00
CRDT- 2007/01/24 09:00
PHST- 2007/01/24 09:00 [pubmed]
PHST- 2007/04/19 09:00 [medline]
PHST- 2007/01/24 09:00 [entrez]
AID - 10.1002/gcc.20412 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2007 Apr;46(4):318-26. doi: 10.1002/gcc.20412.