ea0056oc7.4 | Genomic and clinical aspects of endocrine tumours | ECE2018
Buffet Alexandre
, Morin Aurelie
, Castro-Vega Luis-Jaime
, Habarou Florence
, Lussey-Lepoutre Charlotte
, Letouze Eric
, Lefebvre Herve
, Guilhem Isabelle
, Haissaguerre Magalie
, Raingeard Isabelle
, Padilla-Girola Mathilde
, Tran Thi
, Tchara Lucien
, Bertherat Jerome
, Amar Laurence
, Ottolenghi Chris
, Burnichon Nelly
, Gimenez-Roqueplo Anne-Paule
, Favier Judith
Integrative genomics studies of paragangliomas (PGL) have shown that PGL susceptibility genes are the main drivers of tumorigenesis. Comprehensive genetic analyses have identified germline SDHB and, to a lesser extent, FH gene mutations, as predominant causes of metastatic PGL. However, some suspicious cases remain unexplained. We performed whole-exome sequencing of a paraganglioma exhibiting an SDHx-like molecular profile in the absence of SDHx<...