Endocrine Abstracts

Introduction: Pheochromocytomasand paragangliomas are tumors derived from chromaffin cells which result from mutations of at least six different genes as autosomal dominant disorders.Aim: To evaluate the existence of correlations between genetic alterations and clinical data in 16 patients with pheochromocytomas and/or paragangliomas.Methods: From 2007 to 2009, 13 patients with pheochromocytoma [3 men, medium age 39 years (14&#8211...

Aims: VHL disease is an autossomal dominant syndrome that affects one in every 36 000 live births. The diagnosis is based on clinical criteria and the detection of the mutation on VHL gene. Most cases are diagnosed during the 2nd decade of life; this syndrome includes pheochromocytomas with the following characteristics: extraadrenal location, bilaterality, multifocal lesions, age of onset <30 years and discrete manifestations of catecholamine overproduction.<p class="...

Introduction: Pheochromocytomas/paragangliomas are rare neuroendocrine tumors. Although mostly sporadic, about 1/3 of the cases correspond to inherited autosomal dominant syndromes, often associated with germline mutations of the SDHD, SDHC and SDHB genes. The association with the SDHAF2(SDH5) gene has been recently discovered, with only few cases published worldwide, and it presents as a paraganglioma of the head and neck, without previous known description of other locations...

Background: Von Hippel Lindau Disease (VHL) is an autosomal dominant inherited syndrome characterized by high susceptibility to the development of a wide spectrum of benign and malignant, endocrine and non-endocrine neoplasias in diverse organs of patients harboring a germline mutation in VHL tumor suppressor gene. The major clinical manifestations of VHL are brain, cerebellar and spinal cord hemangioblastoma, retinal angioma, pheochromocytoma, renal cell carcinoma an...

IntroductionPheochromocytoma(PHEO) occurs in pregnancy with an estimated incidence of 0.007%. Its rarity and overlapping presentation with other pregnancy-related hypertensive disorders make the diagnosis really challenging. If left unrecognized, may result in increased maternal and fetal mortality. There are no guidelines on approaching PHEO during pregnancy. This case highlights the difficulties encountered in managing this condition in pregnancy.<...

Context: Telomerase promoter mutations (TERT) were recently described in follicular cell-derived thyroid carcinomas (FCDTC) and seem to be more prevalent in aggressive cancers.Objectives: We aimed to evaluate the frequency of TERT promoter mutations in thyroid lesions and to investigate the prognostic significance of such mutations in a large cohort of patients with differentiated thyroid carcinomas (DTC).<p class="abstext"...