title: Bilateral pheochromocytoma/intra-adrenal paraganglioma in von Hippel-Lindau patient causing acute myocardial infarction.
abstract: A 26-year-old male presented to the emergency department complaining of obstipation, severe headache and abdominal pain. An autopsy revealed bilateral pheochromocytoma and acute myocardial infarction. The tumor cells showed positive immunoreactivity of both chromogranin A and synaptophysin and were negative for adrenocortical markers such as SF-1, c17, scc, 3-HSD as well as SDHB, suggesting a germline mutation of the gene SDHB or SDHD. Molecular genetic analyses did not show a mutation in these two genes, but a mutation in the VHL gene, in exon 3: VHL c.499C>T. This is a missense mutation and causes an amino acid change (Arg167Trp).
authors.affiliation: Svitlana Bachurska Department of General and Clinical Pathology Medical University of Plovdiv University Hospital "St. George" bul. "Vasil Aprilov" 15A 4000 Plovdiv, Bulgaria e-mail: svitba@gmail.com.
authors.forename: Svitlana
authors.initials: S
authors.lastname: Bachurska
authors.forename: Dmitriy
authors.initials: D
authors.lastname: Staykov
authors.forename: Veselin
authors.initials: V
authors.lastname: Belovezhdov
authors.forename: Hironobu
authors.initials: H
authors.lastname: Sasano
authors.forename: Milena
authors.initials: M
authors.lastname: Gulinac
authors.forename: Chavdar
authors.initials: C
authors.lastname: Stefanov
authors.forename: Hartmut P H
authors.initials: HP
authors.lastname: Neumann
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000150:complications* / Q000473:pathology; D000328:Adult; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D009203:Myocardial Infarction / Q000209:etiology*; D010673:Pheochromocytoma / Q000150:complications* / Q000473:pathology; D006623:von Hippel-Lindau Disease / Q000150:complications* / Q000473:pathology