alexa Abstract | Clinical Behavior of a V84L Mutation Pheochromocytoma
ISSN: 2165-7920

Journal of Clinical Case Reports
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Case Report Open Access


A 38 year old male with a history of anxiety, headaches, and diarrhea was referred to the hypertension clinic for evaluation. Clinical work-up revealed a right adrenal mass that was subsequently shown to be a pheochromocytoma and he underwent a total right adrenalectomy, with symptom resolution. The patient was referred to Medical Genetics for an evaluation and genotyping indicated von-Hippel Lindau (‘vHL’) V84L mutation. Four years later, the patient presented with a recurrent complaint of diarrhea. Diagnostic imaging showed a left ureteral tumor, though this was inconsistent with the gene mutation previously identified. A careful examination of the pathologic specimen disclosed the histologic presence of adrenal cortex at the tumor edge during evaluation. The patient had an adrenal “rest” on the left ureter, thus, he remained true to the clinical behavior of the V84L mutation in that pheochromocytoma was limited to the adrenal gland. Genetic testing is strongly recommended for those patients with cancer genetic riskfactors.

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Author(s): Maya N Clark-Cutaia, Michael Lioudis and Raymond R Townsend


Pheochromocytoma, Genetic testing, V84L mutation, Medical case reports

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