Endocrine Abstracts

Introduction: Mutations in the RET gene cause multiple endocrine neoplasia type 2A (MEN2A), MEN2B, and familial medullary thyroid carcinoma (FMTC). The identification of a germline RET mutation aids clinical management, enables the identification and predictive testing of at risk family members and provides reassurance for mutation-negative family members. In the research setting, mutations in exons 5, 8, 10, 11, 13–16 of the RET gene have been ...

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...

Multiple Endocrine Neoplasia is characterised by the occurrence of tumours involving two or more endocrine glands within a single patient. MEN are autosomal dominant disorders. Four forms have been described: MEN 1 due to menin mutations, MEN2 (previously MEN2A) due to mutations of a tyrosine kinase receptor encoded by the rearranged during transfection (RET) protoncogene, MEN3 (previously MEN2B) due to RET mutations and MEN4 due to cyc...

Multiple Endocrine Neoplasia is characterised by the occurrence of tumours involving two or more endocrine glands within a single patient. MEN are autosomal dominant disorders. Four forms have been described: MEN 1 due to menin mutations, MEN2 (previously MEN2A) due to mutations of a tyrosine kinase receptor encoded by the rearranged during transfection (RET) protoncogene, MEN3 (previously MEN2B) due to RET mutations and MEN4 due to cyc...

Familial hypocalciuric hypercalcaemia type 1 (FHH1) is mainly caused by loss-of-function missense mutations of the extracellular calcium-sensing receptor (CaSR), which is a parathyroid- and kidney-expressed G-protein coupled receptor that plays a pivotal role in mineral metabolism. Here, we report the unusual occurrence of a novel heterozygous in-frame CASR exon 4 deletion, c.(492+1_493-1)_(1377+1_1378-1)del, in a family with FHH1. This mutation is predicted...

Introduction: Approximately 25% of medullary thyroid cancer (MTC) cases arise in a familial setting, either as MEN2 or fMTC. While most of these are caused by mutations in the RET gene, a few families have unidentified mutations. Recently, a frameshift mutation in the ESR2 gene (coding oestrogen receptor beta) was found in a family with RET-negative fMTC associated with C-cell hyperplasia. In vitro, transfection of mutant ESR2 led t...