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

[von hippel-lindau disease]

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 , c 17 , 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 .499 C >T . This is a missense mutation and causes an amino acid change (Arg 167 Trp ).

Diseases
Validation

Diseases presenting "tumor cells" symptom

alpha-thalassemia

carcinoma of the gallbladder

cholangiocarcinoma

cushing syndrome

dedifferentiated liposarcoma

dentin dysplasia

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

hodgkin lymphoma, classical

junctional epidermolysis bullosa

kindler syndrome

liposarcoma

lymphangioleiomyomatosis

pleomorphic liposarcoma

primary effusion lymphoma

severe combined immunodeficiency

triple a syndrome

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

werner syndrome

wiskott-aldrich syndrome

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