Searchable abstracts of presentations at key conferences in endocrinology

ea0034p189 | Neoplasia, cancer and late effects | SFEBES2014

Multiple endocrine neoplasia type 2A in a large family with a C620G mutation of the RET proto-oncogene: diagnostic, treatment, and ethical challenges

Raghavan Rajeev , Katreddy Venkata , Leiw L , Garnham A , Gama R , Strouhal P , Buch H , Viswanath A , Singh BM

Introduction: Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant multi-glandular tumour syndrome, caused by RET germline mutations.We present a family with three affected generations identified by predictive testing.Index case and cohort details: A 40-year-old lady referred to ENT clinic with a swelling in the neck. Ultrasound confirmed multinodular goitre with FNAC-THY3. Diagnostic hemithyroidectomy was followed by total thyroidectomy f...