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

Journal of Clinical Case Reports
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Case Report

Clinical Behavior of a V84L Mutation Pheochromocytoma

Maya N Clark-Cutaia1*, Michael Lioudis2and Raymond R Townsend3

1University of Pennsylvania School of Nursing, USA

2Cleveland Clinic College of Medicine, USA

3University of Pennsylvania Perelman School of Medicine, USA

*Corresponding Author:
Maya N Clark-Cutaia
University of Pennsylvania School of Nursing, USA
Tel: (215) 746-4462
Fax: (215) 746-7417
E-mail: [email protected]

Received February 23, 2016; Accepted April 06, 2016; Published April 11, 2016

Citation: Cutaia MNC, Lioudis M, Townsend RR (2016) Clinical Behavior of a V84L Mutation Pheochromocytoma. J Clin Case Rep 6:765. doi:10.4172/2165-7920.1000765

Copyright: © 2016 Cutaia MNC, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

 

Abstract

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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