ea0011p527 | Endocrine tumours and neoplasia | ECE2006
Schiavi F
, Erlic Z
, Savvoukidis T
, Demattè S
, Del Piano A
, Cecchini ME
, Amistà P
, Grego F
, Trabalzini F
, Hoffman M
, Schwentek A
, Mantero F
, Branz F
, Neumann HPH
, Opocher G
Head and neck paragangliomas (HNPs) are tumors derived from the neuroectoderm. HNPs are generally hormonally silent and often asymptomatic. They can be part of the Pheochromocytoma/ Paraganglioma Syndrome, due to mutations of SDHB, SDHC and SDHD genes. SDHD founder effects have been described in the Netherland, USA, Italy and Spain.We identified a new founder effect in a small geographic area (Valsugana-Trentino, actually 50.000 inhabitants), with high a...