The t(X;6) in subungual exostosis results in transcriptional deregulation of the gene for insulin receptor substrate 4

Fredrik Mertens, Emely Möller, Nils Mandahl, Piero Picci, Antonio R. Perez-Atayde, Ignace Samson, Raf Sciot, Maria Debiec-Rychter

Research output: Contribution to journalArticlepeer-review

Abstract

Subungual exostosis is a benign bone- and cartilage-forming tumor known to harbor a pathognomonic t(X;6)(q22;q13-14). Using global gene expression analysis and quantitative real-time PCR, we could show that this translocation results in increased expression of the IRS4 gene, presumably due to disruption and/or exchange of regulatory sequences with the translocation partner, the COL12A1 gene. A corresponding deregulation at the protein level could be demonstrated in primary cell cultures using a combination of fluorescence in situ hybridization and immunostaining. As the t(X;6) usually is the sole cytogenetic aberration in subungual exostosis, the deregulated expression of IRS4 is likely to be pathogenetically essential. The exact role of IRS4 is still poorly investigated, but IRS proteins are known to act as mediators of signaling from receptors, such as the insulin and insulin-like growth factor 1 receptors, and thus have an important effect on cell growth and survival.

Original languageEnglish
Pages (from-to)487-491
Number of pages5
JournalInternational Journal of Cancer
Volume128
Issue number2
DOIs
Publication statusPublished - Jan 15 2011

Keywords

  • COL12A1
  • collagen
  • insulin receptor substrate
  • IRS4
  • subungual exostosis
  • translocation

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

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