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Characterization of the chromosomal translocation t(10;17)(q22;p13) in clear cell sarcoma of kidney

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Author

  • Elaine O'Meara
  • Deirdre Stack
  • Cheng-Han Lee
  • A. Julian Garvin
  • Thomas Morris
  • Pedram Argani
  • Jeong S. Han
  • Jenny Karlsson
  • David Gisselsson Nord
  • Ivo Leuschner
  • Manfred Gessler
  • Norbert Graf
  • Jonathan A. Fletcher
  • Maureen J. O'Sullivan
Show all

Summary, in English

Clear cell sarcoma of kidney (CCSK) is classified as a tumour of unfavourable histology by the National Wilms' Tumor Study Group. It has worse clinical outcomes than Wilms' tumour. Virtually nothing is known about CCSK biology, as there have been very few genetic aberrations identified to act as pointers in this cancer. Three cases of CCSK bearing a chromosomal translocation, t(10;17)(q22;p13), have been individually reported but not further investigated to date. The aim of this research was to characterize t(10;17)(q22;p13) in CCSK to identify the genes involved in the translocation breakpoints. Using fluorescently labelled bacterial artificial chromosomes (BACs) and a chromosome-walking strategy on an index case of CCSK with t(10;17)(q22;p13) by karyotype, we identified the chromosomal breakpoints on 17p13.3 and 10q22.3. The translocation results in rearrangement of YWHAE on chromosome 17 and FAM22 on chromosome 10, producing an in-frame fusion transcript of similar to 3 kb, incorporating exons 15 of YWHAE and exons 2-7 of FAM22, as determined by RT-PCR using YWHAE- and FAM22-specific primers. The YWHAE-FAM22 transcript was detected in six of 50 further CCSKs tested, therefore showing an overall incidence of 12% in our cohort. No transcript-positive cases presented with stage I disease, despite this being the stage for 31% of our cohort. Tumour cellularity was significantly higher in the cases that were transcript-positive. Based on the chromosome 10 breakpoint identified by FISH and the sequences of the full-length transcripts obtained, the FAM22 members involved in the translocation in these CCSK cases include FAM22B and FAM22E. Elucidation of the role of YWHAE-FAM22 in CCSK will assist development of more efficient and targeted therapies for this childhood cancer, which currently has poor outcomes. Copyright (c) 2012 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

Department/s

Publishing year

2012

Language

English

Pages

72-80

Publication/Series

Journal of Pathology

Volume

227

Issue

1

Document type

Journal article

Publisher

John Wiley & Sons Inc.

Topic

  • Medical Genetics

Keywords

  • clear cell sarcoma of kidney
  • YWHAE
  • FAM22
  • chromosomal translocation
  • childhood

Status

Published

ISBN/ISSN/Other

  • ISSN: 0022-3417