Searchable abstracts of presentations at key conferences in endocrinology
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Society for Endocrinology BES 2017

Harrogate, UK
06 Nov 2017 - 08 Nov 2017

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SfE BES 2017 will be on the 6-8 November 2016 in Harrogate, UK.

Symposia

Beyond paragangliomas

ea0050s5.1 | Beyond paragangliomas | SFEBES2017

SDH mutations in tumourigenesis

Maher Eamonn

Seventeen years ago, germline mutations in the SDHD gene were reported to be associated with familial head and neck paraganglioma (HNPGL) and, subsequently, sporadic and familial phaeochromocytoma and paraganglipoma (PPGL). Thereafter germline mutations in other succinate dehydrogenase subunit genes (SDHB, SDHC, SDHA) were also found to predispose to HNPGL and PPGL. Succinate dehydrogenase has critical roles in the Krebs cycle and respiratory chain electron-t...

ea0050s5.2 | Beyond paragangliomas | SFEBES2017

Identification of novel therapeutic targets in SDH-mutated cancers: tracing dysfunction

Lussey-Lepoutre Charlotte , Hollinshead Kate E R , Ludwig Christian , Menara Melanie , Morin Aurelie , Gimenez-Roqueplo Anne-Paule , Favier Judith , Tennant Daniel A

Since the discovery of mutations in succinate dehydrogenase (SDH) complex early this century, it has been shown that tumours underpinned by deficiencies in this metabolic enzyme will demonstrate altered cell metabolism. However, the precise nature of these changes remains poorly described. The metabolic network within cells is highly redundant, with multiple pathways capable of synthesising the required building blocks for cell growth. By the very fact that SDH-deficient cells...

ea0050s5.3 | Beyond paragangliomas | SFEBES2017

Surveillance imaging strategies in SDHx

Akker Scott

The increased testing for key genes associated with familial paraganglioma syndromes has, in turn, led to a rapid increase in the identification of asymptomatic carriers through cascade screening. Mutations in SDH subunits B and D account for approximately 50% of the ‘gene positive’ index case results, yet there remains significant controversy and variability with respect to the screening strategies for their asymptomatic relatives. For SDHD at risk carriers, surveil...