Endocrine Abstracts

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...

Background: Patients with Multiple Endocrine Neoplasia type 2 (MEN2) without previous family history often present late with advanced Medullary Thyroid Cancer (MTC). Surgery is not always curative but RET tyrosine kinase pathway is a potential target for molecular treatment for progressive MTC.Methods: Retrospective review of clinical, genetic, biochemical (calcitonin, CEA) and imaging (US, CT/MRI, Gallium Dotate) data of children with MEN2 who developed...

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 ...