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
(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:
https://lup.lub.lu.se/record/656487
- author
- 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
- organization
- publishing date
- 2007
- 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
- pmid:17690704
- 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
- 2016-04-01 16:31:05
- date last changed
- 2024-10-11 22:27:42
@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}}, keywords = {{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}}, doi = {{10.1038/sj.leu.2404879}}, volume = {{21}}, year = {{2007}}, }