title: Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation.
abstract: BACKGROUND
  A 46-year-old man presented with headaches, paroxysmal palpitations, anxiety and hypertension. The patient had undergone surgery for a retroperitoneal tumor at the age of 31 years, when histological examination revealed an extra-adrenal pheochromocytoma. The patient's 68-year-old mother had a history of a carotid body tumor, which had been resected when she was 34 years old. She was diagnosed with a meningioma at 54 years of age and a jugular paraganglioma at 68 years of age.
  
  
  METHODS
  A 24h urine catecholamine assay was performed. CT imaging of the abdomen and (123)I-labeled metaiodobenzylguanidine scintigraphy revealed a right pheochromocytoma and left adrenal incidentaloma. An inherited neoplasia syndrome was suspected and molecular genetic analyses were performed.
  
  
  METHODS
  Right adrenal pheochromocytoma and left adrenal nonfunctioning incidentaloma, as part of a familial pheochromocytoma-paraganglioma syndrome associated with a germline mutation in SDHC (gene encoding succinate dehydrogenase complex, subunit C, integral membrane protein, 15 kDa).
  
  
  RESULTS
  Predictive testing, with genetic counseling. Management included surgical resection of the existing pheochromocytoma. The patient continues to be monitored with MRI scans of the neck, thorax, abdomen and pelvis every 1-2 years and an annual 24h urine collection for the measurement of metanephrines and catecholamines.
authors.affiliation: Department of Hypertension at the Institute of Cardiology, Warsaw, Poland.
authors.forename: Mariola
authors.initials: M
authors.lastname: Peczkowska
authors.forename: Alberto
authors.initials: A
authors.lastname: Cascon
authors.forename: Aleksander
authors.initials: A
authors.lastname: Prejbisz
authors.forename: Agata
authors.initials: A
authors.lastname: Kubaszek
authors.forename: B Jarosław
authors.initials: BJ
authors.lastname: Cwikła
authors.forename: Mariusz
authors.initials: M
authors.lastname: Furmanek
authors.forename: Zoran
authors.initials: Z
authors.lastname: Erlic
authors.forename: Charis
authors.initials: C
authors.lastname: Eng
authors.forename: Andrzej
authors.initials: A
authors.lastname: Januszewicz
authors.forename: Hartmut P H
authors.initials: HP
authors.lastname: Neumann
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics / Q000473:pathology* / Q000652:urine; D000311:Adrenal Glands / Q000378:metabolism / Q000473:pathology*; D000368:Aged; D002395:Catecholamines / Q000652:urine; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008676:Metanephrine / Q000652:urine; D008875:Middle Aged; D010673:Pheochromocytoma / Q000235:genetics / Q000473:pathology* / Q000652:urine; D014057:Tomography, X-Ray Computed
chemical_list: D002395:Catecholamines; D008565:Membrane Proteins; C108096:SDHC protein, human; D008676:Metanephrine