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9qter gain

Thursday 9 September 2010

In pediatric ependymomas, aCGH analysis revealed a significant increase in genomic imbalances on relapse compared with diagnosis, such as gain of 9qter and 1q (54% v 21% and 12% v 0%, respectively) and loss of 6q (27% v 6%). (19289631)

Target genes

- NOTCH1

  • Notch1 missense mutations are detected in 8.3% of pediatric ependymomas (only in the posterior fossa location and in case of 9q33-34 gain). (19289631)
    - TNC (tenascin C)
  • overexpression of Tenascin-C ((19289631)

References

- Candidate genes on chromosome 9q33-34 involved in the progression of childhood ependymomas. Puget S, Grill J, Valent A, Bieche I, Dantas-Barbosa C, Kauffmann A, Dessen P, Lacroix L, Geoerger B, Job B, Dirven C, Varlet P, Peyre M, Dirks PB, Sainte-Rose C, Vassal G. J Clin Oncol. 2009 Apr 10;27(11):1884-92. PMID: 19289631