Familial testicular cancer in a single-centre population.

Familial occurrence of testicular cancer suggests a genetic predisposition to the disease. A genetic susceptibility may also be reflected by the occurrence of bilateral testicular neoplasms and the high rates of urogenital developmental anomalies in families prone to testicular cancer. In this study, the proportion of familial testicular cancer cases was analyzed retrospectively in a single-centre population of 693 testicular cancer patients treated between 1977 and 1997 and the relative risk (RR) for first-degree relatives of patients was estimated. In addition, the existence of bilateral testicular neoplasms and urogenital developmental anomalies in familial testicular cancer patients was evaluated. 24 of the 693 patients (3.5%) had a first-degree relative with testicular cancer. These 24 cases belonged to 17 families; in 7 of these 17 families both affected first-degree family members were part of the study population of 693 patients. Consequently, the 693 studied patients belonged to a total of 686 families. Thus, the actual proportion of familial testicular cancer was 2.5% (17 of 686 families). The familial cases consisted of 11 brother pairs, including 2 pairs of identical twins and 1 pair which also had two affected cousins, and 6 father-son pairs (in total 36 cases, 12 treated elsewhere). Estimates of the RR to first-degree relatives showed a 9- to 13-fold increased RR to brothers (P < 0.001) and a 2-fold increased RR to fathers (P = non-significant (n.s)) of testicular cancer patients. Among the 36 patients with familial testicular cancer, 2 (5.6%) had bilateral testicular cancer, 4 (11.1%) had undescended testis, 3 (8.3%) had inguinal hernia, and 1 (2.8%) showed renal hypoplasia. The present data on familial occurrence of testicular cancer may lend support to a role of genetic factors in the aetiology of testicular cancer.

Current concepts about testicular cancer.

In the past 20 years, testicular cancer, which occurs in the young, has become a curable malignancy; 90% of the patients treated will achieve long-term survival. However, there is a significant morbidity associated with the management of the disease process. The literature was reviewed concerning the current treatment strategies and prognosis, as well as the long-term sequelae of the various diagnostic and therapeutic procedures. Surveillance has become a key element in the management of patients with a primary (stage I) testicular non-seminoma. Although approximately 25% of these patients will relapse, 100% survival can be achieved with cisplatin in combination with etoposide and bleomycin (BEP). Patients with a disseminated non-seminoma are usually treated with 4 courses of BEP; an 80% survival rate can be achieved. The long-term effects of chemotherapy include Raynaud's phenomenon, acral paraesthesia, hyperlipidaemia, nephrotoxicity, infertility and hormonal disturbances. Retroperitoneal lymph node dissection or resection of residual disease following chemotherapy are associated with a low mortality and morbidity rate, ejaculatory dysfunction excepted. However, with specific modifications in technique (e.g. nerve-sparing) antegrade ejaculation can be preserved in the majority of patients. Radiotherapy is used in stage I and II seminoma. With the conventional dose of 25-30 Gy to the retroperitoneal and ipsilateral iliac lymph nodes, temporary dysfunction of the germ and Leydig cells of the remaining testis may occur by scatter radiation. Patients with advanced seminoma are treated with cisplatin-based chemotherapy. To date, testicular cancer patients can receive appropriate curative treatment with acceptable acute toxicity, depending on the therapy given. The detrimental effects of late toxicities require careful study and follow-up. However, little attention is paid currently to quality of life aspects, in particular the impact of the disease and its treatment on general well-being, including sexual function.