Genetic-clinical profile of subjects with apparently sporadic extra-adrenal paragangliomas

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Genetic-Clinical Profile of Subjects with Apparently Sporadic Extra-Adrenal Paragangliomas

BACKGROUND Mutations in the genes encoding B, C, and D subunits of the succinate dehydrogenase (SDH) are involved in the pathogenesis of familial paraganglioma (PGL) syndrome. Many subjects with apparently sporadic extra-adrenal paragangliomas are found to be carrier for SDH mutation. OBJECTIVE Here we describe four subjects with apparently sporadic extra-adrenal paragangliomas with newly ide...

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Cytokeratin expression in adrenal phaeochromocytomas and extra-adrenal paragangliomas.

AIM To examine whether adrenal phaeochromocytomas and extra-adrenal paragangliomas are immunoreactive for commercially available and routinely used cytokeratin antibodies. METHODS 18 extra-adrenal paragangliomas and seven adrenal phaeochromocytomas were stained with CAM 5.2, AE1/3, and 34 beta E12 following microwave antigen retrieval of formalin fixed tissue. RESULTS A single case from the...

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Pheochromocytomas and extra-adrenal paragangliomas detected by screening in patients with SDHD-associated head-and-neck paragangliomas.

Patients with SDHD-associated head-and-neck paragangliomas (HNP) are at risk for developing pheochromocytomas for which screening has been advised. To assess clinical, biochemical, and radiological outcomes of screening in a large single-center cohort of SDHD-positive patients with HNP and to address the necessity for repetitive follow-up, we evaluated 93 patients with SDHD-associated HNP (p.As...

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Nonfunctioning symptomatic paraganglioma: Is there an optimal follow-up for patients with extra-adrenal benign paragangliomas

Paragangliomas are rare neuroendocrine neoplasms originating from the embryological neural crest. In most cases, they exhibit a benign behavior. Here we report a case of a small symptomatic para-aortic paraganglioma, which was completely removed surgically and a review of the available literature regarding the optimal follow-up of a benign paraganglioma, since no guidelines are currently availa...

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Genetic Overlap between Apparently Sporadic Motor Neuron Diseases

Progressive muscular atrophy (PMA) and amyotrophic lateral sclerosis (ALS) are devastating motor neuron diseases (MNDs), which result in muscle weakness and/or spasticity. We compared mutation frequencies in genes known to be associated with MNDs between patients with apparently sporadic PMA and ALS. A total of 261 patients with adult-onset sporadic PMA, patients with sporadic ALS, and control ...

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ژورنال

عنوان ژورنال: Frontiers in Endocrinology

سال: 2012

ISSN: 1664-2392

DOI: 10.3389/fendo.2012.00065