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

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 Nord

Research output: Contribution to journalArticlepeer-review

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.
Original languageEnglish
Pages (from-to)845-852
JournalGenes, Chromosomes and Cancer
Volume47
Issue number10
DOIs
Publication statusPublished - 2008

Bibliographical note

The information about affiliations in this record was updated in December 2015.
The record was previously connected to the following departments: Division of Clinical Genetics (013022003), Paediatrics (Lund) (013002000), Pathology, (Lund) (013030000)

Subject classification (UKÄ)

  • Medical Genetics
  • Cancer and Oncology

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