There are several reports suggesting that there is a higher incidence
of leukemia and testicular cancer in patients with Down syndrome. Fift
een patients with Down syndrome and testicular cancer were previously
reported. The median age at diagnosis of testicular cancer was 18 year
s, (range: 3-45). The histologic subtypes were seminoma in 9 patients,
not specified in 2 patients, and 1 patient each of adenocarcinoma, yo
lk 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 ha
d a complete remission following chemotherapy with cisplatin, etoposid
e, and bleomycin and is disease-free with a follow-up of 32 months. Pa
tients with Down syndrome and advanced testicular cancer should be tre
ated with potentially curative chemotherapy.