ea0011p528 | Endocrine tumours and neoplasia | ECE2006
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...