Bilateral pheochromocytoma/intra-adrenal paraganglioma in von Hippel-Lindau patient causing acute myocardial infarction

Svitlana Bachurska, Dmitriy Staykov, Veselin Belovezhdov, Hironobu Sasano, Milena Gulinac, Chavdar Stefanov, Hartmut P.H. Neumann

Research output: Contribution to journalArticle

4 Citations (Scopus)

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, 3β-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).

Original languageEnglish
Pages (from-to)78-82
Number of pages5
JournalPolish Journal of Pathology
Volume65
Issue number1
DOIs
Publication statusPublished - 2014 Jan 1

Keywords

  • Autopsy
  • Myocardial infarction
  • Pheochromocytoma
  • von Hippel-Lindau disease

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Fingerprint Dive into the research topics of 'Bilateral pheochromocytoma/intra-adrenal paraganglioma in von Hippel-Lindau patient causing acute myocardial infarction'. Together they form a unique fingerprint.

  • Cite this