Article
SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma.
The Journal of clinical endocrinology and metabolism - 1 Feb 2015
Menara Mélanie, Oudijk Lindsey, Badoual Cécile, Bertherat Jérôme, Lepoutre-Lussey Charlotte, Amar Laurence, Iturrioz Xavier, Sibony Mathilde, Zinzindohoué Frank, de Krijger Ronald, Gimenez-Roqueplo Anne-Paule, Favier Judith
Abstract excerpt
CONTEXT: Pheochromocytomas (PCC) and paragangliomas (PGL) may be caused by a germline mutation in 12 different predisposing genes. We previously reported that immunohistochemistry is a useful approach to detect patients harboring SDHx mutations. SDHA immunostaining is negative in SDHA-mutated tumors only, while SDHB immunostaining is negative in samples mutated on all SDHx genes. In some cases of SDHD or...
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