ea0074ncc2 | Highlighted Cases | SFENCC2021
Abdul Rasheed Althaf
, Ball Steve
, Hunter Louise
Case history: Hereditary paragangliomas (PGLs) associated with loss of function mutations in SDHx and VHL genes have revealed a remarkable connection between these conditions and the hypoxia signalling pathway: with a pseudohypoxic profile driving hypoxia inducible factor (HIF) activity and tissue-limited cellular proliferation. We present a case of sporadic, multiple PGL mediated by HIF activation through true hypoxia. A 32 year old female was re...