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Activation of human telomerase reverse transcriptase through gene fusion in clear cell sarcoma of the kidney.

  • Jenny Karlsson
  • Henrik Lilljebjörn
  • Linda Holmquist Mengelbier
  • Anders Valind
  • Marianne Rissler
  • Ingrid Øra
  • Thoas Fioretos
  • David Gisselsson Nord
Publishing year: 2015
Language: English
Pages: 498-501
Publication/Series: Cancer Letters
Volume: 357
Issue: 2
Document type: Journal article
Publisher: Elsevier

Abstract english

Clear cell sarcoma of the kidney (CCSK) is a rare tumor type affecting infants and young children. Most CCSKs display few genomic aberrations, and no general underlying mechanism for tumor initiation has yet been identified, although a YWHAE-NUTM2B/NUTM2E fusion gene has been observed in a minority of cases. We performed RNA-sequencing of 22 CCSKs to investigate the presence of additional fusion transcripts. The presence of the YWHAE-NUTM2B/NUTM2E fusion was confirmed in two cases. In addition, a novel IRX2-TERT fusion transcript was identified in one case. SNP-array analyses revealed the underlying event to be an interstitial deletion in the short arm of chromosome 5 (5p15.33). TERT was dramatically upregulated under the influence of the IRX2 promoter. In line with TERT expression being driven by active IRX2 regulatory elements, we found a high expression of IRX2 in CCSKs irrespective of fusion gene status. IRX2 was also expressed in human fetal kidney - the presumed tissue of origin for CCSK. We conclude that in addition to promoter mutations and epigenetic events, TERT can also be activated in tumors via formation of fusion transcripts.


  • Cancer and Oncology


  • ISSN: 1872-7980
Thoas Fioretos
E-mail: thoas.fioretos [at]

Principal investigator

Division of Clinical Genetics

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