Germ cell tumors represent a very heterogeneous group of diseases in terms of age of onset and clinical presentation, with a generally favorable prognosis. A distinction is made between gonadal (testicular or ovarian) and extra-gonadal (sacrococcygeal region, retroperitoneum, and mediastinum) tumors. In particular, testicular tumors, although very rare (1% of all male cancers), represent the most common malignancy in men aged 15–44 years in industrialized countries. Approximately 98% of testicular neoplasms are germ cell tumors; the remaining 2% includes Leydig cell tumors, Sertoli cell tumors, rhabdomyosarcoma, and lymphoma. The etiologic factors are not known. However, it is recognized that subjects with retained testes (cryptorchidism) and dysgenetic gonads (e.g., Turner syndrome, Klinefelter syn drome, hermaphroditism) are predisposed to develop germ cell tumors. Testicular germ cell tumors result from trans forming germ cells, which arrests their maturation process. The pluripotency of germ cell tumors manifests itself in different histological types: undifferentiated germ cells (seminoma), embryonal carcinoma, embryonal-like differentiated cells (teratoma), extraembryonic differentiated phenotypes (choriocarcinoma). Most testicular tumors are clinically diagnosable at onset and present with a non-painful testicular mass, diffuse testicular pain, swelling, and induration. Abdominal ultrasound and CT scan of the chest and abdomen by the study of the retroperitoneum represent helpful diagnostic tests. Biomarkers, such as α-fetoprotein (αFP), β-chorionic gonadotropin (βhCG), and lactate dehydrogenase, are recommended for the diagnosis, staging of the dis ease, monitoring of therapy, and identification of recurrent forms of the tumor. αFP is a glycoprotein typically produced in the fetus and liver. Its circulating levels increase in different pathological conditions.

βhCG is a glycoprotein produced by syncytiotrophoblastic cells and consists of two subunits, α and β. The α subunit is common to other pituitary hormones (FSH, LH, TSH). The β subunit is specific and distinguishes it enzymatically and immunologically. βhCG is highly specific for testicular cancer and is produced specifically by choriocarcinoma cells. However, it can be detected in 5–10% of pure seminomas. Lactate dehydrogenase is a less specific marker whose increase reflects cell growth and proliferationrate. Increased plasma levels are observed in approximately 80% of advanced seminomas. These markers should be evaluated cautiously, and false positives due to physiological conditions, presence of other malignancies, or benign diseases should be considered. The persistence of elevated marker values at post-surgical follow-up, after they have been restored within the reference ranges, indicates occult metastases. The neoplasm, generally con fined to the organ of origin, tends to disseminate via the lymphatic route, leading to lymph node metastases (especially in germinomatous forms), and via the blood, leading to mainly pulmonary metastases (especially in non-germinomatous forms).

Teratomas generally do not disseminate. Surgery represents the first therapeutic approach. In the case of testicular cancer, orchidectomy by inguinotomy is always indicated. The prognosis of germ cell tumors is generally favorable, even in situations with metastatic localization.

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