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Combined high-resolution array-based comparative genomic hybridization and expression profiling of ETV6/RUNX1-positive acute lymphoblastic leukemias reveal a high incidence of cryptic Xq duplications and identify several putative target genes within the commonly gained region

Lilljebjörn, Henrik LU ; Heidenblad, Markus LU ; Nilsson, Björn LU ; Lassen, Carin LU ; Biloglav, Andrea LU ; Heldrup, Jesper LU ; Behrendtz, M.; Johansson, Bertil LU ; Andersson, Anna LU and Fioretos, Thoas LU (2007) In Leukemia 21(10). p.2137-2144
Abstract
Seventeen ETV6/RUNX1-positive pediatric acute lymphoblastic leukemias were investigated by high-resolution array-based comparative genomic hybridization ( array CGH), gene expression profiling and fluorescence in situ hybridization. Comparing the array CGH and gene expression patterns revealed that genomic imbalances conferred a great impact on the expression of genes in the affected regions. The array CGH analyses identified a high frequency of cytogenetically cryptic genetic changes, for example, del(9p) and del(12p). Interestingly, a duplication of Xq material, varying between 30 and 60Mb in size, was found in 6 of 11 males (55%), but not in females. Genes on Xq were found to have a high expression level in cases with dup(Xq); a similar... (More)
Seventeen ETV6/RUNX1-positive pediatric acute lymphoblastic leukemias were investigated by high-resolution array-based comparative genomic hybridization ( array CGH), gene expression profiling and fluorescence in situ hybridization. Comparing the array CGH and gene expression patterns revealed that genomic imbalances conferred a great impact on the expression of genes in the affected regions. The array CGH analyses identified a high frequency of cytogenetically cryptic genetic changes, for example, del(9p) and del(12p). Interestingly, a duplication of Xq material, varying between 30 and 60Mb in size, was found in 6 of 11 males (55%), but not in females. Genes on Xq were found to have a high expression level in cases with dup(Xq); a similar overexpression was confirmed in t(12;21)-positive cases in an external gene expression data set. By studying the expression profile and the proposed function of genes in the minimally gained region, several candidate target genes (SPANXB, HMGB3, FAM50A, HTATSF1 and RAP2C) were identified. Among them, the testis-specific SPANXB gene was the only one showing a high and uniform overexpression, irrespective of gender and presence of Xq duplication, suggesting that this gene plays an important pathogenetic role in t(12;21)-positive leukemia. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
SPANXB, array CGH, expression profiling, ETV6/RUNX1
in
Leukemia
volume
21
issue
10
pages
2137 - 2144
publisher
Nature Publishing Group
external identifiers
  • wos:000249555600008
  • scopus:34548789577
ISSN
1476-5551
DOI
10.1038/sj.leu.2404879
language
English
LU publication?
yes
id
bdaff7ad-7dfd-43ee-b442-6578bed74759 (old id 656487)
date added to LUP
2007-12-13 16:10:10
date last changed
2017-07-30 04:38:06
@article{bdaff7ad-7dfd-43ee-b442-6578bed74759,
  abstract     = {Seventeen ETV6/RUNX1-positive pediatric acute lymphoblastic leukemias were investigated by high-resolution array-based comparative genomic hybridization ( array CGH), gene expression profiling and fluorescence in situ hybridization. Comparing the array CGH and gene expression patterns revealed that genomic imbalances conferred a great impact on the expression of genes in the affected regions. The array CGH analyses identified a high frequency of cytogenetically cryptic genetic changes, for example, del(9p) and del(12p). Interestingly, a duplication of Xq material, varying between 30 and 60Mb in size, was found in 6 of 11 males (55%), but not in females. Genes on Xq were found to have a high expression level in cases with dup(Xq); a similar overexpression was confirmed in t(12;21)-positive cases in an external gene expression data set. By studying the expression profile and the proposed function of genes in the minimally gained region, several candidate target genes (SPANXB, HMGB3, FAM50A, HTATSF1 and RAP2C) were identified. Among them, the testis-specific SPANXB gene was the only one showing a high and uniform overexpression, irrespective of gender and presence of Xq duplication, suggesting that this gene plays an important pathogenetic role in t(12;21)-positive leukemia.},
  author       = {Lilljebjörn, Henrik and Heidenblad, Markus and Nilsson, Björn and Lassen, Carin and Biloglav, Andrea and Heldrup, Jesper and Behrendtz, M. and Johansson, Bertil and Andersson, Anna and Fioretos, Thoas},
  issn         = {1476-5551},
  keyword      = {SPANXB,array CGH,expression profiling,ETV6/RUNX1},
  language     = {eng},
  number       = {10},
  pages        = {2137--2144},
  publisher    = {Nature Publishing Group},
  series       = {Leukemia},
  title        = {Combined high-resolution array-based comparative genomic hybridization and expression profiling of ETV6/RUNX1-positive acute lymphoblastic leukemias reveal a high incidence of cryptic Xq duplications and identify several putative target genes within the commonly gained region},
  url          = {http://dx.doi.org/10.1038/sj.leu.2404879},
  volume       = {21},
  year         = {2007},
}