Searchable abstracts of presentations at key conferences in endocrinology

ea0034p181 | Neoplasia, cancer and late effects | SFEBES2014

Inherited mutations in the SDH complex increase metastatic malignant potential of paragnglioma and phaeochromocytoma tumours

Jafar-Mohammadi Bahram , Izatt Louise , Schulte Klaus-Martin , Carroll Paul V , McGowan Barbara M , Powrie Jake K , Whitelaw Benjamin C , Sarker Debashis , Diaz-Cano Salvador , Aylwin Simon J B

Phaeochromocytomas (PCC) and paraganglioma (PGL) are neural crest tumours arising from the chromaffin producing cells of the adrenal medulla or sympathetic/parasympathetic system respectively. Recently, in part due to advances in high throughput sequencing, our understanding of the genetic predisposition to these tumours has greatly increased. To date, 13 genes have been implicated in the pathogenesis of these conditions (ten available for testing at our centre). Recent studie...

ea0094op7.1 | RET and Endocrine Cancer | SFEBES2023

Investigating the functional kinome in Multiple Endocrine Neoplasia Type 2

Rix Beatrice , Chauhan Rakhee , Brain Caroline , Kurzawinski Tom R. , Ogunbiyi Olumide K. , Swarbrick Katherine , Nonaka Daisuke , Carroll Paul V. , McGowan Barbara M. , Whitelaw Benjamin C. , McDonald Neil Q. , Grey William , Izatt Louise

Introduction: The age of onset and severity of thyroid disease in MEN2 kindreds can be variable, resulting in wide intrafamilial heterogeneity, despite the same oncogenic driver RET pathogenic variant being present. Our study sought to investigate the RET kinomic landscape in MEN2 to discover new biomarkers and to provide further mechanistic insights into malignant disease progression, focussing on paediatric cases.Metho...