sporadic well-differentiated pancreatic neuroendocrine tumor
Monday 2 July 2012
sporadic well-differentiated pancreatic neuroendocrine tumors
ATRX / DAXX
- Approximately 45% of sporadic well-differentiated pancreatic neuroendocrine tumors harbor mutations in either ATRX (alpha thalassemia/mental retardation X-linked) or DAXX (death domain-associated protein).
- These novel tumor suppressor genes encode nuclear proteins that interact with one another and function in chromatin remodeling at telomeric and peri-centromeric regions.
- Mutations in these genes are associated with loss of their protein expression and correlate with the alternative lengthening of telomeres phenotype.
Loss of ATRX or DAXX expression and concomitant acquisition of the alternative lengthening of telomeres phenotype are late events in a small subset of MEN-1 syndrome pancreatic neuroendocrine tumors. de Wilde RF, Heaphy CM, Maitra A, Meeker AK, Edil BH, Wolfgang CL, Ellison TA, Schulick RD, Molenaar IQ, Valk GD, Vriens MR, Borel Rinkes IH, Offerhaus GJ, Hruban RH, Matsukuma KE. Mod Pathol. 2012 May 11. PMID: 22575867