PMID- 21694761
OWN - NLM
STAT- MEDLINE
DCOM- 20111102
LR  - 20211020
IS  - 1932-6203 (Electronic)
IS  - 1932-6203 (Linking)
VI  - 6
IP  - 6
DP  - 2011
TI  - Genomic imbalances are confined to non-proliferating cells in paediatric patients 
      with acute myeloid leukaemia and a normal or incomplete karyotype.
PG  - e20607
LID - 10.1371/journal.pone.0020607 [doi]
LID - e20607
AB  - Leukaemia is often associated with genetic alterations such as translocations, 
      amplifications and deletions, and recurrent chromosome abnormalities are used as 
      markers of diagnostic and prognostic relevance. However, a proportion of acute 
      myeloid leukaemia (AML) cases have an apparently normal karyotype despite 
      comprehensive cytogenetic analysis. Based on conventional cytogenetic analysis of 
      banded chromosomes, we selected a series of 23 paediatric patients with acute 
      myeloid leukaemia and performed whole genome array comparative genome 
      hybridization (aCGH) using DNA samples derived from the same patients. Imbalances 
      involving large chromosomal regions or entire chromosomes were detected by aCGH 
      in seven of the patients studied. Results were validated by fluorescence in situ 
      hybridization (FISH) to both interphase nuclei and metaphase chromosomes using 
      appropriate bacterial artificial chromosome (BAC) probes. The majority of these 
      copy number alterations (CNAs) were confirmed by FISH and found to localize to 
      the interphase rather than metaphase nuclei. Furthermore, the proliferative 
      states of the cells analyzed by FISH were tested by immunofluorescence using an 
      antibody against the proliferation marker pKi67. Interestingly, these experiments 
      showed that, in the vast majority of cases, the changes appeared to be confined 
      to interphase nuclei in a non-proliferative status.
FAU - Ballabio, Erica
AU  - Ballabio E
AD  - Centre for Cell and Chromosome Biology and Brunel Institute of Cancer Genetics 
      and Pharmacogenomics, Division of Biosciences, Brunel University, West London, 
      United Kingdom.
FAU - Regan, Regina
AU  - Regan R
FAU - Garimberti, Elisa
AU  - Garimberti E
FAU - Harbott, Jochen
AU  - Harbott J
FAU - Bradtke, Jutta
AU  - Bradtke J
FAU - Teigler-Schlegel, Andrea
AU  - Teigler-Schlegel A
FAU - Biondi, Andrea
AU  - Biondi A
FAU - Cazzaniga, Giovanni
AU  - Cazzaniga G
FAU - Giudici, Giovanni
AU  - Giudici G
FAU - Wainscoat, James S
AU  - Wainscoat JS
FAU - Boultwood, Jacqueline
AU  - Boultwood J
FAU - Bridger, Joanna M
AU  - Bridger JM
FAU - Knight, Samantha J L
AU  - Knight SJ
FAU - Tosi, Sabrina
AU  - Tosi S
LA  - eng
GR  - WT_/Wellcome Trust/United Kingdom
GR  - 090532/WT_/Wellcome Trust/United Kingdom
GR  - 075491/WT_/Wellcome Trust/United Kingdom
GR  - DH_/Department of Health/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20110609
PL  - United States
TA  - PLoS One
JT  - PloS one
JID - 101285081
SB  - IM
MH  - Adult
MH  - Cell Nucleus/genetics
MH  - Cell Proliferation
MH  - Child
MH  - Chromosome Aberrations
MH  - Comparative Genomic Hybridization
MH  - DNA Copy Number Variations/genetics
MH  - Female
MH  - Fluorescent Antibody Technique
MH  - Genome, Human/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Leukemia, Myeloid, Acute/*genetics/*pathology
MH  - Male
MH  - Reproducibility of Results
PMC - PMC3111408
COIS- Competing Interests: The authors have declared that no competing interests exist.
EDAT- 2011/06/23 06:00
MHDA- 2011/11/04 06:00
PMCR- 2011/06/09
CRDT- 2011/06/23 06:00
PHST- 2011/01/20 00:00 [received]
PHST- 2011/05/05 00:00 [accepted]
PHST- 2011/06/23 06:00 [entrez]
PHST- 2011/06/23 06:00 [pubmed]
PHST- 2011/11/04 06:00 [medline]
PHST- 2011/06/09 00:00 [pmc-release]
AID - PONE-D-11-01630 [pii]
AID - 10.1371/journal.pone.0020607 [doi]
PST - ppublish
SO  - PLoS One. 2011;6(6):e20607. doi: 10.1371/journal.pone.0020607. Epub 2011 Jun 9.