Endocrine Abstracts

Background and Demographics: Medullary thyroid carcinoma (MTC), in the context of Multiple Endocrine Neoplasia type 2 (MEN2), is caused by mutations in the RET proto-oncogene. For children with MEN2, both 2A and 2B subtypes, and advanced MTC, the RET tyrosine kinase (TK) pathway is a target for treatment with selpercatinib, a selective RET TK inhibitor (TKI). In the United Kingdom, 7 paediatric patients have been receiving named -patient, compassionate access ...

Aim: We describe the natural history, treatment, and clinical outcomes of Multiple Endocrine Neoplasia type 2B (MEN2B) caused by the M918T RET pathogenic variant.Methods: Retrospective case notes review of all young people <18 years presenting to a quaternary paediatric endocrinology referral centre in the UK between 2005-2023 who have MEN2B caused by the M918T pathogenic variant in the RET proto-oncogene.<p clas...

Introduction: Pathogenic RET mutations cause Multiple Endocrine Neoplasia type 2 (MEN2) and sixty-one have been classified according to their penetrance of MTC. However, this distinct pattern of genotype-phenotype presentations is not always precisely predictable. P.Val804Met, the most frequent mutation in RET, is currently thought to confer a low lifetime risk with later onset of MTC.Methodology: We present demographica...

A 68-year-old gentleman presented with proximal myopathy in association with severe hypokalaemia (K+ 2.3mmol/l) and metabolic alkalosis. He had recently been diagnosed with type 2 diabetes. His random cortisol was 1045nmol/l. His 24-h urinary free cortisol was 3536nmol/24 h, and midnight cortisol was 85nmol/l. On a low dose dexamethasone suppression test, his cortisol failed to suppress (cortisol 1195–983nmol/l, ACTH 275ng/l), consistent with ACTH-dependent Cushing’s...

Background: Mutations in the RET proto-oncogene occur in about 70% of medullary thyroid cancers (MTC) and is central in its pathogenesis. Two highly selective RET inhibitors, selpercatinib and pralsetinib, are FDA/EMA-approved in RET-altered thyroid cancers. We share our experience of these drugs in metastatic MTC.Methods: Data were collected retrospectively from 19 patients commenced on selective RET inhibitors for MTC ...