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High-resolution molecular cytogenetic analysis of Wilms tumors highlights diagnostic difficulties among small round cell kidney tumors.

Stewénius, Ylva LU ; Jin, Yuesheng LU ; Øra, Ingrid LU ; Panagopoulos, Ioannis LU ; Möller, Emely LU ; Mertens, Fredrik LU ; Sandstedt, Bengt; Alumets, Jan LU ; Åkerman, Måns LU and Merks, Johannes Hm, et al. (2008) In Genes, Chromosomes and Cancer 47(10). p.845-852
Abstract
Many solid tumors exhibit characteristic gene fusions, which are reflected by balanced translocations at the cytogenetic level. These changes might be useful diagnostic and prognostic tools. In Wilms tumor (WT, nephroblastoma) no fusions genes or recurrent balanced translocations have been described thus far. To screen for cryptic balanced translocations, we have analyzed 17 renal neoplasms, histopathologically classified as WT, by a combination of G-banding, multicolor FISH, and subtelomeric FISH. This approach revealed several submicroscopic chromosomal aberrations and three different seemingly balanced translocations, resulting in a heterozygous deletion of HACE1, an EWSR1/ERG fusion, and an EWSR1/FLI1 fusion, respectively. As EWSR1... (More)
Many solid tumors exhibit characteristic gene fusions, which are reflected by balanced translocations at the cytogenetic level. These changes might be useful diagnostic and prognostic tools. In Wilms tumor (WT, nephroblastoma) no fusions genes or recurrent balanced translocations have been described thus far. To screen for cryptic balanced translocations, we have analyzed 17 renal neoplasms, histopathologically classified as WT, by a combination of G-banding, multicolor FISH, and subtelomeric FISH. This approach revealed several submicroscopic chromosomal aberrations and three different seemingly balanced translocations, resulting in a heterozygous deletion of HACE1, an EWSR1/ERG fusion, and an EWSR1/FLI1 fusion, respectively. As EWSR1 rearrangements are known to be a characteristic of Ewing tumors (ET), our findings illustrate the diagnostic problems regarding small cell kidney tumors and strongly argue for the need of adjuvant diagnostic techniques in this group of neoplasms. In summary, our genomic screening approach proved efficient in finding structural chromosomal aberrations. The fact that no recurrent translocations were found in the WTs of this study argues against the presence of a frequent pathognomonic translocation in this disease entity. (c) 2008 Wiley-Liss, Inc. (Less)
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Genes, Chromosomes and Cancer
volume
47
issue
10
pages
845 - 852
publisher
John Wiley & Sons
external identifiers
  • wos:000258683500003
  • pmid:18615675
  • scopus:50249118205
ISSN
1045-2257
DOI
10.1002/gcc.20587
language
English
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yes
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79546c2c-b4e1-429f-ab95-a99e6b19c998 (old id 1181304)
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http://www.ncbi.nlm.nih.gov/pubmed/18615675?dopt=Abstract
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2008-08-07 13:45:04
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@article{79546c2c-b4e1-429f-ab95-a99e6b19c998,
  abstract     = {Many solid tumors exhibit characteristic gene fusions, which are reflected by balanced translocations at the cytogenetic level. These changes might be useful diagnostic and prognostic tools. In Wilms tumor (WT, nephroblastoma) no fusions genes or recurrent balanced translocations have been described thus far. To screen for cryptic balanced translocations, we have analyzed 17 renal neoplasms, histopathologically classified as WT, by a combination of G-banding, multicolor FISH, and subtelomeric FISH. This approach revealed several submicroscopic chromosomal aberrations and three different seemingly balanced translocations, resulting in a heterozygous deletion of HACE1, an EWSR1/ERG fusion, and an EWSR1/FLI1 fusion, respectively. As EWSR1 rearrangements are known to be a characteristic of Ewing tumors (ET), our findings illustrate the diagnostic problems regarding small cell kidney tumors and strongly argue for the need of adjuvant diagnostic techniques in this group of neoplasms. In summary, our genomic screening approach proved efficient in finding structural chromosomal aberrations. The fact that no recurrent translocations were found in the WTs of this study argues against the presence of a frequent pathognomonic translocation in this disease entity. (c) 2008 Wiley-Liss, Inc.},
  author       = {Stewénius, Ylva and Jin, Yuesheng and Øra, Ingrid and Panagopoulos, Ioannis and Möller, Emely and Mertens, Fredrik and Sandstedt, Bengt and Alumets, Jan and Åkerman, Måns and Merks, Johannes Hm and de Kraker, Jan and Gisselsson Nord, David},
  issn         = {1045-2257},
  language     = {eng},
  number       = {10},
  pages        = {845--852},
  publisher    = {John Wiley & Sons},
  series       = {Genes, Chromosomes and Cancer},
  title        = {High-resolution molecular cytogenetic analysis of Wilms tumors highlights diagnostic difficulties among small round cell kidney tumors.},
  url          = {http://dx.doi.org/10.1002/gcc.20587},
  volume       = {47},
  year         = {2008},
}