Extragonadal choriocarcinoma in a patient with Down syndrome

There are several reports suggesting that there is a higher incidence of leukemia and testicular cancer in patients with Down syndrome. Fifteen patients with Down syndrome and testicular cancer were previously reported. The median age at diagnosis of testicular cancer was 18 years, (range: 3-45). The histologic subtypes were seminoma in 9 patients, not specified in 2 patients, and 1 patient each of adenocarcinoma, yolk sac, embryonal, and teratocarcinoma. In this article we describe a case of extragonadal choriocarcinoma in a patient with Down syndrome. To our knowledge, this is the first case ever reported. The patient had a complete remission following chemotherapy with cisplatin, etoposide, and bleomycin and is disease-free with a follow-up of 32 months. Patients with Down syndrome and advanced testicular cancer should be treated with potentially curative chemotherapy.