Introduction: The molecular pathogenesis of gastrointestinal carcinoid tumours is poorly understood. We have been undertaking molecular genetic investigations of a young woman with neurofibromatosis type 1 (NF1) in whom a gastric carcinoid tumor was detected following an episode of gastrointestinal bleeding. She was otherwise relatively mildly affected by NF1. In NF1, gastric carcinoids have been found previously only in patients with other predisposing factors, which were absent in this patient.
Conference: 7th Annual ENETS Conference (2010)
Presenting Author: Dr Edward S Tobias
Introduction: In SDHD mutation families, paragangliomas and pheochromocytomas usually occur only after paternal transmission of the mutation. This important but unexplained parent-of-origin effect is not due to imprinting of the SDHD gene itself (as was initially suspected) since SDHD is biallelically expressed.
Conference: 9th Annual ENETS Conference (2012)
Presenting Author: Dr Edward Tobias