paraganglioma/proline

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SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.

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Mutations within three genes, SDHB, SDHC, and SDHD, encoding distinct subunits of a hetero-oligomeric protein known as the mitochondrial complex II, a component of the mitochondrial electron transport chain and the Krebs cycle have been implicated in the pathogenesis of hereditary paraganglioma

Polycythemia and paraganglioma with a novel somatic HIF2A mutation in a male.

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Recently, a new syndrome of paraganglioma, somatostatinoma, and polycythemia has been discovered (known as Pacak-Zhuang syndrome). This new syndrome, with somatic HIF2A gain-of-function mutations, has never been reported in male patients. We describe a male patient with Pacak-Zhuang syndrome who

In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas.

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Pheochromocytomas and paragangliomas are highly vascular tumors of the autonomic nervous system. Germline mutations, including those in hypoxia-related genes, occur in one third of the cases, but somatic mutations are infrequent in these tumors. Using exome sequencing of six paired constitutive and

New syndrome of paraganglioma and somatostatinoma associated with polycythemia.

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OBJECTIVE The occurrence of ≥ two distinct types of tumors, one of them paraganglioma (PGL), is unusual in an individual patient, except in hereditary cancer syndromes. METHODS Four unrelated patients were investigated, with thorough clinical evaluation. Plasma and tissue catecholamines and

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