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Functioning Thoracic Paraganglioma: Association with Von Hippel-Lindau Syndrome¹

Department of Internal Medicine, Division of Nephrology and Hypertension (B.U.B., H.P.H.N.), the Department of Diagnostic Radiology (C.A.), and the Department of Clinical Chemistry (M.M.H.), Albert Ludwigs University, Freiburg, Germany; the Departments of Internal Medicine (R.G.) and Pediatrics (H.S.), Ludwig Maximilian University (R.G.), Munich, Germany; and the Department of Pediatrics I, Zentralklinikum Augsburg (P.H.H.), Augsburg, Germany; and the Department of Internal Medicine, University of Warsaw (A.J.), Warsaw, Poland

Address all correspondence and requests for reprints to: Dr. Bernhard U. Bender, Medizinische Universitätsklinik, Hugstetterstrasse 55, D 79106 Freiburg, Germany.

Functioning thoracic paraganglioma (pheochromocytoma) is unusual and therefore suggestive of a pathogenesis distinct from that of sporadic adrenal pheochromocytoma. To determine whether the pheochromocytoma-associated syndromes Von Hippel-Lindau disease (VHL) and multiple endocrine neoplasia type 2 (MEN 2) play a role in the development of thoracic functioning paragangliomas, germline DNA from five unselected patients with this rare tumor was analyzed for mutations in the genes that predispose to VHL and MEN 2. Genetic investigations and further clinical data revealed that three had VHL, with two different germline mutations of the vhl gene, but no individual was affected by MEN 2. Two of the three patients with VHL did not show any additional VHL-associated lesions. This result suggests that VHL should be considered in the differential diagnosis of thoracic pheochromocytoma, as such a diagnosis carries further important implications for the patient and family. Conversely, in patients suspected of a catecholamine-secreting tumor and known VHL, thoracic localization should be considered if an adrenal pheochromocytoma cannot be detected.

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