%0 Journal Article %1 Benetkiewicz.2006 %A Benetkiewicz, M. %A Stahl, T. D. de %A Gordor, A. %A Pfeifer, S. %A Wittmann, S. %A Gessler, M. %A Dumanski, J. P. %D 2006 %J Int J Cancer %K *Chromosome 22/*genetics Aberrations Acid Child Child;Preschool Chromosome Chromosomes;Human;Pair DNA;Neoplasm/blood/genetics/isolation Deletion Female Genome;Human Genotype Humans Hybridization/*methods Infant Kidney Male Mapping Monosomy Neoplasms/*genetics Nucleic Tumor/*genetics Wilms purification {\&} %N 3 %P 571--578 %T Identification of limited regions of genetic aberrations in patients affected with Wilms' tumor using a tiling-path chromosome 22 array %V 119 %X Wilms' tumor (WT) is one of the most common solid tumors of childhood. The genetics of this disorder is complex and few studies have suggested allelic loss of chromosome 22 as a frequent aberration. To assess tumor- and possible germline-specific regions affected with gene copy number variations on this chromosome, we applied a high-resolution genomic clone-based chromosome 22 array to a series of 28 WT samples and the paired blood-derived DNA of the patients. The group of tumors was enriched for cases with metastases, relapse or fatal outcome, criteria that were expected to yield a higher number of alterations on chromosome 22. Overall, the array-based form of comparative genomic hybridization (array-CGH) analysis revealed genomic changes in 53\% (15 out of 28) of cases. We identified hemizygous deletion of the whole arm of 22q in 3 tumors (11\%). Furthermore, a complex amplifier genotype was detected in 8 samples, presenting regions of gain along the chromosome, which defined 7 distinct minimal overlapping segments. The distribution of aberrations in 4 additional cases displaying regional genomic imbalances delimited 2 tumor suppressor/oncogene candidate loci, 1 in the proximal and the other in the terminal part of 22q. Analysis of these regions revealed the presence of several candidate genes that may play a role in the development of WT. These findings demonstrate the power of array-CGH in the determination of DNA copy number alterations and further strength the notion that WT-associated genes exist on this chromosome.

@article{Benetkiewicz.2006, abstract = {Wilms' tumor (WT) is one of the most common solid tumors of childhood. The genetics of this disorder is complex and few studies have suggested allelic loss of chromosome 22 as a frequent aberration. To assess tumor- and possible germline-specific regions affected with gene copy number variations on this chromosome, we applied a high-resolution genomic clone-based chromosome 22 array to a series of 28 WT samples and the paired blood-derived DNA of the patients. The group of tumors was enriched for cases with metastases, relapse or fatal outcome, criteria that were expected to yield a higher number of alterations on chromosome 22. Overall, the array-based form of comparative genomic hybridization (array-CGH) analysis revealed genomic changes in 53{\%} (15 out of 28) of cases. We identified hemizygous deletion of the whole arm of 22q in 3 tumors (11{\%}). Furthermore, a complex amplifier genotype was detected in 8 samples, presenting regions of gain along the chromosome, which defined 7 distinct minimal overlapping segments. The distribution of aberrations in 4 additional cases displaying regional genomic imbalances delimited 2 tumor suppressor/oncogene candidate loci, 1 in the proximal and the other in the terminal part of 22q. Analysis of these regions revealed the presence of several candidate genes that may play a role in the development of WT. These findings demonstrate the power of array-CGH in the determination of DNA copy number alterations and further strength the notion that WT-associated genes exist on this chromosome.}, added-at = {2013-01-29T13:47:26.000+0100}, author = {Benetkiewicz, M. and Stahl, T. D. de and Gordor, A. and Pfeifer, S. and Wittmann, S. and Gessler, M. and Dumanski, J. P.}, biburl = {https://www.bibsonomy.org/bibtex/2c8d3b4a9bbaceaf21fe3b63563100361/ebch}, interhash = {9317d2b4a4a8c2ce806459e23e960ee1}, intrahash = {c8d3b4a9bbaceaf21fe3b63563100361}, journal = {Int J Cancer}, keywords = {*Chromosome 22/*genetics Aberrations Acid Child Child;Preschool Chromosome Chromosomes;Human;Pair DNA;Neoplasm/blood/genetics/isolation Deletion Female Genome;Human Genotype Humans Hybridization/*methods Infant Kidney Male Mapping Monosomy Neoplasms/*genetics Nucleic Tumor/*genetics Wilms purification {\&}}, number = 3, pages = {571--578}, timestamp = {2013-01-29T13:47:38.000+0100}, title = {Identification of limited regions of genetic aberrations in patients affected with Wilms' tumor using a tiling-path chromosome 22 array}, volume = 119, year = 2006 }