somatostatinoma/proline

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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

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

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