Endocrine Abstracts

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...

Introduction: Pheochromocytoma and Paraganglioma (PPGL) are neuroendocrine tumours arising from chromaffin cells in the adrenal medulla or ganglia in the autonomic nervous system. ~40% of PPGL arise due to germline mutation (commonly SDHx) and sporadic tumours frequently have causative somatic mutations. 15-20% of PPGL behave in a malignant manner. ~95% PPGL express somastostatin receptors and are GaDOTATATE avid. Lutathera® is a commercially available PR...

Background: MEN2A-causing RET variants are considered highly penetrant, and early prophylactic thyroidectomy is recommended to prevent the development of Medullary thyroid cancer (MTC). However, existing risk estimates may be exaggerated due to their reliance on clinically selected patients, leading to unnecessary surgeries. To address this, we conducted a comprehensive study of 450,000 clinically unselected individuals to evaluate the risk of MTC wit...

131I-metaiodobenzylguanide (MIBG) therapy, initially introduced in the 1980s, has emerged as a first-line to treatment of malignant phaeochromocytomas. Its other notable use has been in treating neuroblastomas occurring in childhood serving as an adjuvant prior to surgery or chemotherapy. An observed known late consequence of MIBG therapy is Primary ovarian failure (POI), characterised by menstrual irregularities over a period of 4 months associated with high Follicular stimul...