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Is Predisposition for Nephroblastoma Linked to Polymorphisms of the WTX Gene?

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Pathology & Oncology Research

Abstract

Inactivation of Wilms´ tumor X (WTX) gene has been linked to the pathogenesis of a varying percentage of nephroblastomas. In contrast, germline mutations of WTX were identified to cause bone dysplasia, but not to induce the development of nephroblastomas. In our study we investigated whether tumor promotion of nephroblastoma by inactivation of WTX gene is linked to certain single nucleotide polymorphisms (SNPs). Therefore 8 SNPs—distributed over the whole length of the WTX gene—were investigated by high resolution melting curve analysis (HRMA) and sequencing of genomic DNA from nephroblastoma patients (NB) and controls. No difference was detected in the 8 SNPs investigated, which were distributed over the whole length of the gene. Additionally, sequence analysis of the coding part of the WTX gene of the tumor samples revealed no chromosomal aberration. Our study indicates, that inactivation of WTX appears to be a late event in tumorigenesis of nephroblastoma in a subgroup of nephroblastomas.

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Acknowledgements

This project was partly funded by the Thyssen Stiftung (non-profit organisation), project number AZ.20.06.0.046.

We thank Angelika Hofmann, Christine Grill and Sandra Sunitsch for extraction of the genomic DNA.

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Authors and Affiliations

  1. Institute of Pathology, Medical University of Graz, Auenbruggerplatz 25, A-8036, Graz, Austria

    Barbara Guertl & Gerald Hoefler

  2. Kiel Pediatric Tumor Registry, Institute of Pathology, Christian Albrechts University Kiel, Michaelisstr. 11, 24105, Kiel, Germany

    Ivo Leuschner

  3. Centre of Medical Research, Medical University of Graz, Stiftingtalstrasse 24, A-8010, Graz, Austria

    Christian Guelly & Birgit Ebner

  4. Department of Pathology, General Hospital and Paracelsus Medical University Salzburg, Muellner Hauptstrasse 48, A-5020, Salzburg, Austria

    Cornelia Kronberger

Authors
  1. Barbara Guertl
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  2. Ivo Leuschner
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  3. Christian Guelly
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  4. Birgit Ebner
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  5. Cornelia Kronberger
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  6. Gerald Hoefler
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Correspondence to Barbara Guertl.

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Guertl, B., Leuschner, I., Guelly, C. et al. Is Predisposition for Nephroblastoma Linked to Polymorphisms of the WTX Gene?. Pathol. Oncol. Res. 16, 189–191 (2010). https://doi.org/10.1007/s12253-009-9205-6

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  • DOI: https://doi.org/10.1007/s12253-009-9205-6

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