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High-resolution molecular cytogenetic analysis of Wilms tumors highlights diagnostic difficulties among small round cell kidney tumors by Ylva Stewénius; Yuesheng Jin; Ingrid Øra; Ioannis Panagopoulos; Emely Möller; Fredrik Mertens; Bengt Sandstedt; Jan Alumets; Måns Åkerman; Johannes HM Merks; Jan de Kraker; David Gisselsson is a Medicine article available to read on EtoBox.
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## 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
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- Author
- Ylva Stewénius; Yuesheng Jin; Ingrid Øra; Ioannis Panagopoulos; Emely Möller; Fredrik Mertens; Bengt Sandstedt; Jan Alumets; Måns Åkerman; Johannes HM Merks; Jan de Kraker; David Gisselsson
- Publisher
- John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 1045-2257)
- Published
- 2008
- Language
- EN
- Field
- Medicine (Life Sciences)