Endocrine Abstracts

Multiple endocrine neoplasia (MEN-1) is a rare congenital disease with genetic background. The MEN-1 gene encodes the menin protein, which acts as a tumour suppressor. Mutation of one allele and the inactivation of the other allele of this gene lead to clonal proliferation and to the development of tumours. The clinical manifestation of MEN-1 is a combination of endocrine (most commonly parathyreoid adenomas, entero-pancreatic endocrine tumours, pituitary tumours) and non-endo...

Adrenocortical cancer is a rare and heterogenous malignancy with incompletely understood pathogenesis and poor prognosis. Sometimes patients present with hormonal excess symptoms (e.g. virilization, Cushing’s syndrome) or local symptoms consistent with abdominal space-occupation (median tumor size at the time of diagnosis may be >10 cm). Three cases are presented to give an overview of how adrenocortical cancer is currently managed. Tumors typically appear inhomogenou...

Introduction: Medullary thyroid carcinoma (MTC) in multiple endocrine neoplasia type 2B (MEN2B) syndrome is associated with RET mutation. Patients harbouring de novo mutations are usually diagnosed in more advanced stages of the disease. We present the case of a young female patient with MEN2B diagnosed with stage IV medullary thyroid carcinoma at the age of 10 years.Aim: Characterizing the efficacy of the different sequences of therapies and disease pro...