Down Syndrome Associated with Testicular Seminoma: A Case Report

ABSTRACT

Individuals with Down syndrome have a susceptibility to neoplastic transformation, increased risk of chronic leukemia and central nervous system tumors. Recently, an increased number of cases of testicular germ cell tumors have been reported in individuals with Down syndrome, with more than forty cases in the literature. Here we report the first Korean case of seminoma with Down syndrome, in a 19-year-old institutionalized man who presented with painful scrotal swelling. Percutaneous needle biopsy showed histology of seminoma with invasion to the adjacent epididymis. Both testes were orthotopic. He underwent orchiectomy of the affected side, and the surgical staging was stage I seminoma with complete resection. We emphasize that the physician and nursing staff should be aware of the increased incidence of testicular seminoma in Down syndrome, because testicular seminoma might be misinterpreted as a scrotal infection with subsequent needle biopsy, which is contraindicated to avoid possible lymphatic metastasis.