MON-324 Bilateral Scrotal Masses as a Clue to Diagnosis of Von Hippel-Lindau Disease

Abstract

Introduction: Scrotal mass is a common clinical problem among men of all ages. The etiologies range from benign to malignancy. We herein report an insulin-treated patient with a 10-year history of bilateral benign scrotal masses. An advanced stage of renal cell carcinoma and pancreatic cysts were discovered due to the presentation of metastatic pleural effusion. Genetic test confirmed von Hippel-Lindau (VHL) disease. Case report: A 42-year-old man came to emergency department with progressive dyspnea on exertion for 1 month. He was diagnosed as type 1 diabetes mellitus since 20 years ago. Other underlying diseases were hypertension and dyslipidemia. Ten years ago, he had a history of bilateral scrotal masses that had been diagnosed as benign cysts and underwent cyst removal. After careful physical examination and chest x-ray, unilateral pleural effusion was found. The pleural effusion profile was compatible with metastatic effusion. Computed tomography of the chest and abdomen showed multiple lung nodules accompanying with moderate left pleural effusion and mediastinal lymphadenopathy. A 7.6-cm left renal mass with invasion to the left renal vein and a few small hypodense cysts at right kidney were demonstrated. Diffuse pancreatic cysts with calcification were also found. Clear cell renal cell carcinoma was confirmed by renal biopsy. He had received palliative treatment with Pazopanib. After meticulous review of clinical information, VHL was suspected. The cause of diabetes mellitus may be from pancreatic etiology rather than type 1 diabetes mellitus. Family history revealed intracranial tumor in his brother, father and grandfather. Review of ultrasonography of the testes showed bilateral mixed solid/cystic masses. Despite normal testis or epididymis cannot be identified, radiographic findings compatible with bilateral papillary cystadenomas of the epididymis. These bilateral lesions are virtually pathognomonic of VHL disease. In contrast, unilateral lesion can be found in general population. Genetic test for VHL gene was performed and reported heterozygous nonsense mutation of c.263G>A (p.Trp88Stop) in exon 1 of VHL gene. Unfortunately, the patient was passed away in the next few months after diagnosis of renal cell carcinoma. Conclusions: Bilateral papillary cystadenomas of the epididymis are usually needed work up for VHL disease. Early recognition of common clinical problem may lead to the early diagnosis of a rare serious condition.