Pheochromocytoma-paraganglioma: Biochemical and genetic diagnosis

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Genetic Alterations in Pheochromocytoma and Paraganglioma

Pheochromocytomas and paragangliomas are neuroendocrine tumors that arise from neural crest-derived cells of the adrenal medulla and the extra-adrenal paraganglia. They cause hypertension due to an abnormally high production of catecholamines (mainly adrenaline and noradrenaline), with symptoms including recurrent episodes of headache, palpitations and sweating, and an increased risk of cardiov...

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Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome.

OBJECTIVES Adrenal pheochromocytomas are rare neuroendocrine tumours, however their prevalence is probably underestimated - in some series 50% were diagnosed at autopsy. The clinical presentation varies among patients, that is why diagnosis might be difficult to establish. Pheochromocytoma may coexist with paraganglioma and when paraganglioma is diagnosed, the patient should be screened for phe...

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Primary Cardiac Pheochromocytoma (Paraganglioma)

Pheochromocytomas are catecholamine-producing neuroendocrine tumors arise from primitive neural crest cells. About 90% of these tumors occur as solitary benign tumors of the adrenal medulla, where majority of chromaffin cells are concentrated. Only ten percent originates from extra-adrenal sites with the organ of Zukerkandal (paraganglia along abdominal aorta) being the most common. Chromaffin ...

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Pheochromocytoma and paraganglioma: imaging characteristics

The accurate diagnosis of adult pheochromocytoma and paraganglioma necessitates a multidisciplinary approach that includes clinical history, biochemical testing, and multimodality imaging such as computed tomography, magnetic resonance imaging, and nuclear medicine studies. This review illustrates the different imaging characteristics of primary adult pheochromocytomas as well as both sympathet...

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Diagnosis of endocrine disease: Biochemical diagnosis of phaeochromocytoma and paraganglioma.

Adrenal phaechromocytomas and extra-adrenal sympathetic paragangliomas (PPGLs) are rare neuroendocrine tumours, characterised by production of the catecholamines: noradrenaline, adrenaline and dopamine. Tumoural secretion of catecholamines determines their clinical presentation which is highly variable among patients. Up to 10-15% of patients present entirely asymptomatic and in 5% of all adren...

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ژورنال

عنوان ژورنال: Nefrología (English Edition)

سال: 2016

ISSN: 2013-2514

DOI: 10.1016/j.nefroe.2016.11.002