Testicular Seminoma Clinical Presentation

Updated: Mar 03, 2016
  • Author: Michael B Williams, MD, MS; Chief Editor: Bradley Fields Schwartz, DO, FACS  more...
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Presentation

History

Testicular seminoma is most often diagnosed when a male aged 15-35 years presents with a painless testicular lump that has been noticeable for several days to months. Delay in diagnosis is common because of patients' failure to perform self-examinations or to seek medical attention after noticing a testicular mass, or a physician's delay while treating the patient for presumed epididymo-orchitis or testicular trauma.

Patients commonly have abnormal findings on semen analysis at presentation, and they may be subfertile. [3]

Overall, in approximately 75% of patients, the seminomas are localized (stage I) at diagnosis. However, 15% have metastatic disease to the regional lymph nodes, and 5-10% have involvement of juxtaregional nodes or visceral metastases.

Uncommon presentations include the following:

  • Testicular pain, possibly with an acute onset, especially when an associated hydrocele prevents adequate physical examination.
  • A testis tumor may become metastatic and may manifest as large retroperitoneal and/or chest lesions, while the primary tumor is nonpalpable. Scrotal ultrasonography may locate the primary tumor. Histopathology of the primary testis often shows a focus of tumor surrounded by fibrous scar, termed burned-out testis cancer.
  • In 1996, Miller and associates reported on a series of patients with previously nonpalpable testes that were explored and incorrectly diagnosed as vanished testes. A subsequent seminoma was diagnosed intra-abdominally. [2]
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Causes

Risk of testis cancer is 10 to 40 times higher in patients with a history of cryptorchidism; 10% of patients with germ cell tumors (GCTs) have a history of cryptorchidism. [2] Risk is greater for the abdominal versus inguinal location of undescended testis. An abdominal testis is more likely to be seminoma, while a testis surgically brought to the scrotum by orchiopexy is more likely to be a nonseminomatous SGCT. Orchiopexy allows for earlier detection by physical examination but does not alter the risk of GCT.

Other risk factors include trauma, mumps, and maternal estrogen exposure. Hemminki and colleagues demonstrated a familial risk for testicular cancer, with a 4-fold increased risk in a male with a father who had a GCT and a 9-fold increased risk if a brother was affected. [15]

Genetic changes in the form of amplifications and deletions are observed mainly in the 12p11.2-p12.1 chromosomal regions. [16] A gain of 12p sequences is associated with invasive growth of both seminomas and NSGCTs. In contrast, spermatocytic seminoma shows a gain of chromosome 9, while most infantile yolk sac tumors and teratomas show no chromosomal changes.

Somatic mutations of the KIT gene occur in approximately 5% of all testicular GCTs. Of these, Coffey and colleagues (2008) demonstrated that only seminomas contain activating mutations of the KIT gene. [17]

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