Objective: To review cases of testicular seminoma in Down's syndrome (DS) patients.
Methods: The case of a patient diagnosed and treated at our institution is reported. The literature is reviewed for previous cases, with attention paid to age, stage, treatment and outcome.
Results: Nineteen cases were found. The mean age at diagnosis is 32. Seventy three percent are Stage I. At 47, our patient is the oldest reported case. A body of evidence exists for an association between DS and testicular seminoma. An increased rate of cryptorchidism, increased gonadotropin levels and genetic instability are possible pathways.
Conclusion: The age distribution of seminoma in DS is skewed by the decreased life expectancy of patients with DS. More cases should be seen as this life expectancy increases. The stage at presentation in DS patients is comparable to that seen in the general population. Standard therapy has been successfully delivered in these patients.