Журнал клинических случаев

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

Abstract

Joseph J LaConti, Tae Kon Kim, Elizabeth Whittington, Nignyuan Ding, Vy Dinh, Khushman Moh’d, Saleem Umar and Stefan Glück

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.