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Metastatic Seminoma Presenting as Enlarging Retroperitoneal Mass in a Patient with Neurofibromatosis I | OMICS International | Abstract
ISSN: 2165-7920

Journal of Clinical Case Reports
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Case Report

Metastatic Seminoma Presenting as Enlarging Retroperitoneal Mass in a Patient with Neurofibromatosis I

Joseph J LaConti1*, Tae Kon Kim1,4, Elizabeth Whittington2, Nignyuan Ding1, Vy Dinh3, Khushman Moh’d3, Saleem Umar2
and Stefan Glück3
1Department of Internal Medicine, Jackson Memorial Hospital, University of Miami, Miami, FL, USA
2Department of Pathology, Jackson Memorial Hospital, University of Miami, Miami, FL, USA
3Sylvester Comprehensive Cancer Center, Division of Hematology/Oncology, Miami, FL, USA
4Smilow Cancer Center, Yale University Medical Center, New Haven, CT, USA
Corresponding Author : Joseph J LaConti
Internal Medicine, Jackson Memorial Hospital
Central Building, 600D, 1611 NW 12th St, Miami, FL, 33136, USA
Tel: 732-904-8469
E-mail: [email protected]
Received May 24, 2014; Accepted June 28, 2014; Published June 30, 2014
Citation: LaConti JJ, Kim TK, Whittington E, Ding N, Dinh V, et al. (2014) Metastatic Seminoma Presenting as Enlarging Retroperitoneal Mass in a Patient with Neurofibromatosis I. J Clin Case Rep 4:380. doi:10.4172/2165-7920.1000380
Copyright: © 2014 LaConti JJ, 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

Neurofibromatosis type 1 (NF1) is a rare genetic disorder where patients develop neurofibromas and have characteristic skin and eye findings. These patients have increased risks for certain types of cancers, especially of neural origin. Testicular cancer is a relatively common type of cancer for younger men, and is considered a very treatable malignancy if identified early. This report describes a patient with NF1 who had an initial chief complaint of back pain. A retroperitoneal mass was identified, but initial pathology report was epithelioid granulomas without necrosis, and was non-diagnostic. After the patient developed deep vein thrombosis as complication of the mass, a repeat biopsy would provide the diagnosis of typical seminoma. A second review by independent pathologists of the primary biopsy sample was also unable to appropriately diagnose the seminoma. This report illustrates how a clear pathological diagnosis can drastically alter the approach to the disease and change the prognosis in a patient with an already rare disorder.

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