Testis & epididymis
Germ cell tumors
General


Topic Completed: 1 January 2013

Minor changes: 16 April 2020

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PubMed Search: "germ cell tumors" testis and epididymis

Turki Al-Hussain, M.D.
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Cite this page: Al-Hussain T. Germ cell tumors - general. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/testisgctgeneral.html. Accessed June 7th, 2020.
Definition / general
  • < 1% of malignancies in males; highly curable even if advanced
  • Most common tumor in men 25 - 29 years
  • 95% of all testicular tumors; 60% are mixed histologic types
  • Peak age 30 years; usually 20 - 50 years
  • Arises from seminiferous epithelium; has totipotent properties
  • 1 - 2% are bilateral; 15% are bilateral if two undescended testes
  • Bilateral tumors are usually classical seminoma; in elderly, usually spermatocytic seminoma or lymphoma
  • p53 mutations are common
Predisposing factors
  • Cryptorchidism (10% of tumors, higher position in abdomen increases risk)
  • Genetics (Whites have 5 × risk of Blacks)
  • Siblings of affected patients have 10 × risk
  • Testicular dysgenesis (testicular feminization > Klinefelter)
  • Li-Fraumeni syndrome
  • Prior testicular germ cell tumor
  • Prior intratubular germ cell neoplasia
Clinical features
  • Usually presents as slowly enlarging painless testicular mass
  • Tumor regression may occur, identified by fibrosis, hemosiderin laden macrophages, chronic inflammatory cells and calcification
  • May be associated with multiple cutaneous atypical nevi
  • Classification: most important distinction is seminoma versus nonseminomatous germ cell tumor (NSGCT)
Prognostic factors
  • Depend on histologic type and stage
  • Usually spreads to ipsilateral nodes first
  • Lymphatic spread common to periaortic, iliac, mediastinal and supraclavicular nodes but not to inguinal nodes unless previous scrotal or inguinal surgery or invasion of scrotal wall
  • Hematogenous spread to liver, lungs, brain, bones
  • Metastases may differ from primary lesion histologically
  • LDH levels correlate with tumor cell mass
  • Serum tumor markers are used for staging (S category), assessing tumor burden (LDH), response to therapy (AFP, hCG); obtain immediately after orchiectomy and if elevated, recheck to determine if elevation persists (indicates residual disease)
Treatment
  • Initially orchiectomy with high ligation of spermatic cord
  • Seminoma - also radiation of retroperitoneum, chemotherapy if advanced disease
  • Spermatocytic seminoma - surgery adequate
  • Teratomas in children - surgery adequate
  • Nonseminomatous germ cell tumors stages 1 & 2: treatment variable; some prefer lymph node dissection with further therapy dependent on presence / absence of tumor, some prefer watchful waiting unless aggressive features (vascular invasion, predominance of embryonal carcinoma)
  • Most patients who die of tumor die within 2 years of diagnosis
  • Late recurrences (after complete response for 2 years):
    • 90% initially stage 1, 60% have teratoma (pure or mixed) in recurrence, 47% yolk sac (including unusual patterns, pure or mixed), also embryonal carcinoma, nongerm cell malignant tumor
    • Only those with teratoma alone have favorable outcome; excision recommend due to poor response to chemotherapy (Am J Surg Pathol 2000;24:257)
Molecular / cytogenetics description
  • Isochromosome 12p or extra 12p seen in almost all germ cell tumors
  • Highly specific for germ cell tumors but also seen in ovarian germ cell neoplasms; occasionally in acute leukemia, embryonal rhabdomyosarcoma, neuroepithelioma
  • Chromosome has identical arms, probably from misdivision of centromere
  • Extra copies of 12p associated with tumor progression and treatment failure, particularly in nonseminomatous germ cell tumors
  • Associated with increased levels of PTH related peptide
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