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ea0011p528 | Endocrine tumours and neoplasia | ECE2006

Characterization of familial non-syndromic pheochromocytoma

Opocher G , Schiavi F , Iacobone M , Sattarova S , Erlic Z , Martella M , Mian C , Zambonin L , De Lazzari P , Murgia A , Favia G , Mantero F

Hereditable forms account for 3040% of pheochromocytomas (pheo). The role of germ-line mutation of VHL, RET, SDHB, SDHD gene has been largely elucidated. However, genotyping a group of 172 sporadic or familial pheo, we have characterize five unrelated probands with familial pheo without any sequence variants of RET (7 exons), or of the entire coding sequence of VHL, SDHB, SDHC or SDHD.The proband #1 had a bilateral pheo when 32 and a local recurren...

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ea0011p527 | Endocrine tumours and neoplasia | ECE2006

Origin and spread of the SDHD p.Y114C mutation causing head and neck paraganglioma in Trentino, Italy

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...

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Endocrine Abstracts

Characterization of familial non-syndromic pheochromocytoma

Origin and spread of the SDHD p.Y114C mutation causing head and neck paraganglioma in Trentino, Italy

BiosciAbstracts