Abstract library

2 results for "Rudolph".
#246 SDHB Loss Predicts Malignancy in Pheochromocytomas/Sympathethic Paragangliomas, but Not Through Hypoxia Signalling
Introduction: To date there is no reliable histopathological marker of malignancy for pheochromocytomas/sympathetic paragangliomas (PCC/PGL). It is well-known that PCC/PGL in the hereditary context of an SDHB germline mutation very often metastasize. The immunohistochemical loss of SDHB expression was recently shown to be a surrogate marker for the presence of an SDH germline mutation in PCC/PGL. SDHB loss is supposed to be tumorigenic via activation of hypoxia signals.
Conference: 8th Annual ENETS Conference (2011)
Category: Basic
Presenting Author: Dr Anja M Schmitt
#856 DAXX and ATRX Loss Defines Chromosomal Instability and Poor Outcome in Pancreatic NET
Introduction: Chromosomal Instability (CIN) has been reported in pancreatic neuroendocrine tumors (pNETs) with poor outcome. However, no specific genetic background has been associated with CIN. Whole exome sequencing revealed mutations in DAXX (Death domain associated protein gene) and ATRX (ATR-X gene) in 40% of pNETs. DAXX and ATRX mutations in pNETs are associated with Alternative Lengthening of Telomeres (ALT) activation.
Conference: 11th Annual ENETS Conference (2014)
Category: ...none of the below
Presenting Author: PhD Ilaria Marinoni
Keywords: pNET, Daxx, Atrx, ALT, CIN