PMID- 16990785
OWN - NLM
STAT- MEDLINE
DCOM- 20061205
LR  - 20130304
IS  - 0887-6924 (Print)
IS  - 0887-6924 (Linking)
VI  - 20
IP  - 11
DP  - 2006 Nov
TI  - Identification of cryptic aberrations and characterization of translocation 
      breakpoints using array CGH in high hyperdiploid childhood acute lymphoblastic 
      leukemia.
PG  - 2002-7
AB  - High hyperdiploidy, characterized by non-random trisomies, is the largest 
      cytogenetic subgroup in childhood acute lymphoblastic leukemia (ALL). It is not 
      known whether the gained chromosomes are sufficient for leukemogenesis or if 
      additional genetic aberrations are necessary. However, the suboptimal chromosome 
      morphology of hyperdiploid ALLs makes detection of structural abnormalities 
      difficult if using cytogenetic techniques; alternative methods are, therefore, 
      needed. We performed array comparative genome hybridization (CGH) analyses, with 
      a resolution of 100 kb, of eight cases of high hyperdiploid childhood ALL to 
      characterize structural abnormalities found with G-banding/multicolor 
      fluorescence in situ hybridization (FISH) and to detect novel changes. The 
      non-centromeric breakpoints of four rearrangements, including three 
      translocations and one 1q duplication, were narrowed down to <0.2 Mb. 
      Furthermore, four submicroscopic imbalances involving 0.6-2.7 Mb were detected, 
      comprising two segmental duplications involving 1q22 and 12q24.31 in one case and 
      two hemizygous deletions in 12p13.2-31 - including ETV6 - and in 13q32.3-33.1 in 
      another case. Notably, FISH analysis of the latter revealed an associated 
      reciprocal t(3;13)(q?;32.2-33.1). In conclusion, the array CGH analyses revealed 
      putative leukemia-associated submicroscopic imbalances and rearrangements in 2/8 
      (25%) hyperdiploid ALLs. The detection and characterization of these additional 
      genetic aberrations will most likely increase our understanding of the 
      pathogenesis of high hyperdiploid childhood ALL.
FAU - Paulsson, K
AU  - Paulsson K
AD  - Department of Clinical Genetics, Lund University Hospital, Sweden. 
      kajsa.paulsson@med.lu.se
FAU - Heidenblad, M
AU  - Heidenblad M
FAU - Morse, H
AU  - Morse H
FAU - Borg, A
AU  - Borg A
FAU - Fioretos, T
AU  - Fioretos T
FAU - Johansson, B
AU  - Johansson B
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20060914
PL  - England
TA  - Leukemia
JT  - Leukemia
JID - 8704895
SB  - IM
MH  - Adolescent
MH  - Aneuploidy
MH  - Child, Preschool
MH  - Chromosome Breakage
MH  - Female
MH  - Genetic Testing/methods
MH  - Genomics/*methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Male
MH  - Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics
MH  - *Translocation, Genetic
MH  - Trisomy
EDAT- 2006/09/23 09:00
MHDA- 2006/12/09 09:00
CRDT- 2006/09/23 09:00
PHST- 2006/09/23 09:00 [pubmed]
PHST- 2006/12/09 09:00 [medline]
PHST- 2006/09/23 09:00 [entrez]
AID - 2404372 [pii]
AID - 10.1038/sj.leu.2404372 [doi]
PST - ppublish
SO  - Leukemia. 2006 Nov;20(11):2002-7. doi: 10.1038/sj.leu.2404372. Epub 2006 Sep 14.