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

doi:10.5114/pjp.2014.42675

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

MED - Medical Sciences

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	78-82
Number of pages	5
Journal	Polish Journal of Pathology
Volume	65
Issue number	1
DOIs	https://doi.org/10.5114/pjp.2014.42675
Publication status	Published - 2014

Keywords

Autopsy
Myocardial infarction
Pheochromocytoma
von Hippel-Lindau disease

ASJC Scopus subject areas

Pathology and Forensic Medicine

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10.5114/pjp.2014.42675

Cite this

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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, 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).",

keywords = "Autopsy, Myocardial infarction, Pheochromocytoma, von Hippel-Lindau disease",

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T1 - Bilateral pheochromocytoma/intra-adrenal paraganglioma in von Hippel-Lindau patient causing acute myocardial infarction

AU - Bachurska, Svitlana

AU - Staykov, Dmitriy

AU - Belovezhdov, Veselin

AU - Sasano, Hironobu

AU - Gulinac, Milena

AU - Stefanov, Chavdar

AU - Neumann, Hartmut P.H.

PY - 2014

Y1 - 2014

N2 - 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).

AB - 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).

KW - Autopsy

KW - Myocardial infarction

KW - Pheochromocytoma

KW - von Hippel-Lindau disease

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

Abstract

Keywords

ASJC Scopus subject areas

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