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

Tae Kon Kim Nignyuan Ding

doi:10.4172/2165-7920.1000380

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.

Highlights

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder that affects 1 in 3000 people
A prospective study of NF1 patients in the UK showed an overall cancer risk increase of 2.7 times the general population, with the most frequent types being of connective tissue and neural origin [3]
The retroperitoneal mass was biopsied by interventional radiology with CT guidance and pathology on this specimen revealed a small population of malignant cells consistent with seminoma, in a background of lymphocytic infiltrate and cellular necrosis (Figure 3)

Summary

Introduction

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder that affects 1 in 3000 people. A prospective study of NF1 patients in the UK showed an overall cancer risk increase of 2.7 times the general population, with the most frequent types being of connective tissue and neural origin [3]. We present a case of a 23 year old male with neurofibromatosis found to have a seminoma with metastasis to the retroperitoneum, who had initial symptoms of back pain and developed bilateral deep vein thromboses of the iliac veins and bilateral ureteral compression that required stenting.

Results

Conclusion