Endocrine Abstracts

Introduction: Familial non-medullary thyroid cancer(FNMTC) represents 3–9% of thyroid cancer cases. Although the susceptibility genes for syndromic FNMTC are known, most cases of FNMTC are nonsyndromic and the genetic causes are unknown.Patients and methods: We conducted a multicenter study to identify a candidate susceptibility gene for nonsyndromic FNTMC. We collected blood specimens, clinical and pathological data from 38 kindreds with FNMTC (32 ...

We present the clinical case of a family with an initial diagnosis of AIP syndrome with AIP mutation and a secondary diagnosis of MEN syndrome associated because of a large MEN-1 gen deletion. A male patient 16 years old was evaluated because of delayed growth and pubertal development. He had headaches, nausea and vomits since seven years old. MRI showed: Large pituitary mass of 47.6×22×47.2 mm that erode the floor of the sella, extending into the left prepontine cis...

Introduction: The Carney-Stratakis syndrome (CSS) is an inherited condition caused by germline mutations in succinate dehydrogenase (SDH) subunits B, C or D that predispose to gastric stromal tumors (GIST) and multicentric paragangliomas (PGL). SDH acts as a tumor suppressor gene, and enzyme activity reduction is known to be oncogenic. Since 2002 there has been some scarce reports. We present a new case of CSS associated with a germline unknown significance mutation in exon 4 ...

BackgroundThymic neuroendocrine tumor (THY-NET) accounts for almost 20% of multiple endocrine neoplasia type 1 (MEN1)-associated mortality. Diagnosis at early tumor stage is associated with improved survival.ObjectiveTo study the prevalence, clinical features and prognosis of THY-NET in MEN 1. To describe the overall causes of death among the registered MEN1 patients. To compare and discuss our results with t...

Introduction: The autosomal dominant multiple endocrine neoplasia type 1 (MEN1), characterized by parathyroid hyperplasia (PH), neuroendocrine digestive tumours (NET) and pituitary adenomas (PA), is due to mutations in the tumor suppressor gene MEN1 encoding a 610-amino acid protein, menin. Guidelines recommend MEN1 mutational analysis in index cases with two or more MEN1-associated tumours, in first-degree relatives of mutation carriers and when clinical dat...