Testis & paratestis
Germ cell tumors
Germ cell tumors-general
Author: Turki Al-Hussain, M.D.
Last author update: 1 January 2013
Last staff update: 3 July 2020
Copyright: 2002-2023, PathologyOutlines.com, Inc.
PubMed Search: "germ cell tumors" testis and epididymis
Table of Contents
Definition / general | Predisposing factors | Clinical features | Prognostic factors | Treatment | Positive stains | Negative stains | Molecular / cytogenetics descriptionCite this page: Al-Hussain T. Germ cell tumors-general. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/testisgctgeneral.html. Accessed March 26th, 2023.
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)
Positive stains
Negative stains
- RNA binding motif (Hum Pathol 2000;31:1116), SF1 (Appl Immunohistochem Mol Morphol 2013;21:318)
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
