Signs and Symptoms
The most common complaint of patients on presentation is a painless scrotal mass that on physical examination cannot be separated from the testis. This finding distinguishes the mass from epididymitis. Not infrequently, the mass may be painful and, thus, may mimic epididymitis or testicular torsion.
Approximately 20% of patients with germ cell tumors have an associated hydrocele.
Patients generally do not have inguinal adenopathy in the absence of prior scrotal violation.
Other symptoms include low back pain (from retroperitoneal adenopathy) and gynecomastia (usually bilateral). In cases of massive retroperitoneal lymphadenopathy, abdominal pain, nausea, vomiting, and constipation may be reported.
Patients with disseminated germ cell tumors usually present with symptoms from lymphatic or hematogenous dissemination. Mediastinal adenopathy may be associated with chest pain or cough. Supraclavicular lymphadenopathy may also be present.
The cumulative 10-year risk of developing metachronous testicular cancer for patients with extragonadal germ cell tumors is 10.3%. Patients with extragonadal tumors of the retroperitoneum and NSGCTs have a 14.3% 10-year risk of the development of metachronous testicular cancer. Some, however, may have previously undiagnosed occult testicular primary tumors.
Hematogenous spread to the lungs may be associated with dyspnea, cough, or hemoptysis. Infrequently, patients with extensive disease may present with signs and symptoms of CNS metastases or bone pain from osseous metastases (most common in patients with seminoma).
Metastases to the liver are not uncommon and may manifest as fullness in the upper abdomen or vague abdominal discomfort. More likely, they will be identified on CT scan in an otherwise asymptomatic patient.
Primary Mediastinal Germ Cell Tumors
Primary mediastinal germ cell tumors are associated with several unique syndromes, including Klinefelter syndrome and acute megakaryocytic leukemia. In addition, mediastinal tumors have a great propensity for the development of non–germ cell malignant histology as a major component of the tumor (eg, embryonal rhabdomyosarcoma, adenocarcinoma, and peripheral neuroectodermal tumor).
Testicular self-examination is both simple to learn and safe to perform. The rarity of testicular cancer, however, calls into question the value of routine aggressive screening procedures.
Testicular biopsy of a suspicious lesion is not recommended. Approximately 95% of patients with a mass within the testicle have a malignancy. Orchiectomy is the preferred treatment for patients with a testicular mass.
CIS appears to be the precursor lesion for most testicular germ cell tumors, except spermatocytic seminoma. Most patients harboring CIS can be expected to develop testicular cancer, but with a latency period of a decade or more. The incidence of CIS in infertile men is about 0.6%. In patients with prior testicular cancer, biopsy will reveal CIS in the contralateral testis at a rate of approximately 5% to 6%. Men with a history of cryptorchidism and presumed extragonadal germ cell tumor are at greater risk for CIS. Some investigators suggest routine biopsy of the contralateral testis in men with CIS.
Ultrasonography can reliably identify masses within the testis. In virtually all patients, ultrasonography can distinguish a testicular lesion from an extratesticular mass and may detect lesions that are not palpable on physical examination. Ultrasonographic findings cannot consistently differentiate benign lesions from malignant tumors of the testis (95% of such masses are malignant). Most patients with testicular cancer, and especially those with seminoma, have lesions that are hypoechoic when compared with adjacent tissue. NSGCTs, however, may cause mixed signals, including hyperechoic masses, which are commonly seen with teratoma.
Serum levels of β-subunit human chorionic gonadotropin (β-hCG) and α-fetoprotein (AFP) are elevated in approximately 80% to 85% of patients with extensive germ cell tumors. Patients with pure seminoma may have elevated levels of β-hCG but not of AFP (a significantly elevated AFP level usually indicates the presence of NSGCT elements). False-positive β-hCG levels can be seen in patients who have hypogonadism (cross-reactivity with luteinizing hormone) or who use marijuana; AFP levels may be elevated in patients with liver dysfunction or hepatitis. Levels of actin-β-106/193/384 fragments in cell-free DNA levels were increased in patients with testicular cancer when compared with controls, with up to 87% sensitivity and 95% specificity. This analysis was predictive of stage III disease in seven patients. The high sensitivity of cell-free DNA could assist in the management of testicular cancer, especially when levels of traditional serum markers are not elevated.
When a testicular mass is discovered, the patient should undergo an orchiectomy through an inguinal incision even when he has undergone initial chemotherapy.
Trans-scrotal incisions or biopsies
These procedures should not be performed, because they may ultimately lead to aberrant lymphatic drainage from the tumor or scrotal contamination.