Overview

Mediastinal germ cell tumours (GCTs) arise from pluripotent germ cells or embryonal cells. They are also known as extra-gonadal GCTs. About 5–10% of all GCTs arise in the mediastinum; 95% are found in the anterior mediastinum (prevascular compartment). They occur most commonly between ages 20–40, with equal sex distribution — except mediastinal seminoma, which is almost exclusively found in males. In males, seminoma is commonly associated with Klinefelter's syndrome.

Mediastinal GCTs are benign in approximately 80% of patients (mature teratoma and dermoid cyst). Malignant GCTs carry a worse prognosis than their gonadal counterparts.

Key workup step

Always examine the testes and obtain scrotal ultrasound in any young male with an anterior mediastinal mass — mediastinal GCT must be distinguished from a gonadal primary with mediastinal metastasis, as this changes staging, prognosis, and treatment significantly.

Classification

Classification of germ cell tumours
CategoryTumour types
Seminomatous GCT
Seminoma · Germinoma
Non-seminomatous GCT (NSGCT)
BenignMature teratoma · Dermoid cyst
MalignantEmbryonal carcinoma · Choriocarcinoma · Immature (malignant) teratoma · Yolk sac tumour

Tumour markers

Tumour markers in GCT
MarkerSeminomaNSGCT
AFP (alpha-fetoprotein)Normal — raised AFP excludes pure seminomaRaised in 80% (yolk sac, embryonal)
β-hCGRaised in 10%Raised in 30–35% (choriocarcinoma)
PLAP (placental alkaline phosphatase)Raised in 50%Normal
LDHRaisedRaised
Marker rule

A raised AFP in any mediastinal anterior mass in a young male = NSGCT or mixed GCT until proven otherwise. Pure seminoma never raises AFP. This distinction has direct therapeutic implications — seminoma is radiosensitive, NSGCT is not.

Seminoma vs NSGCT — key differences

Differentiating seminoma from non-seminomatous GCT
FeatureSeminomaNSGCT
AFP / β-hCGRarely raisedRaised in ~90%
Associated syndromesNoneKlinefelter's, trisomy 8, 5q deletion
RadiosensitivityHighInsensitive
Metastatic behaviourRemain intrathoracicFrequently disseminated
Primary treatmentRadiation ± cisplatin chemotherapyCisplatin-based combination chemotherapy
Remission rate>80%CR in 55–60%, PR in 30–35%
5-year survival50–80%50–60%

Mature teratoma (dermoid cyst)

The most common mediastinal GCT. Contains well-differentiated elements from all three germ layers — ectoderm (skin, hair, teeth — giving it the 'dermoid' appearance), mesoderm (muscle, cartilage, bone), and endoderm (gut, respiratory epithelium). The classic CT finding is a cystic mass with fat attenuation and calcification in the anterior mediastinum.

Treatment: Complete surgical excision is curative. VATS or sternotomy depending on size. Rupture into bronchus causes expectoration of hair and sebum (trichoptysis). Malignant transformation to immature teratoma or carcinosarcoma is rare but documented.

Treatment overview

  • Mature teratoma: complete surgical excision — curative
  • Seminoma: cisplatin-based chemotherapy ± radiotherapy; surgery for residual mass after chemotherapy
  • NSGCT: cisplatin-based combination chemotherapy (BEP — bleomycin, etoposide, cisplatin); surgery for residual masses after chemotherapy
Current chemotherapy protocols

For current BEP regimens, salvage chemotherapy protocols, and management of residual masses after chemotherapy, refer to ESMO testicular cancer guidelines (extragonadal GCTs follow similar protocols).

Further reading

All clinical content should be verified against current guidelines before clinical application. This resource is intended for revision and educational purposes only.

Standard textbooks

  • Shields TW, LoCicero J, Reed CE, Feins RH. General Thoracic Surgery. 7th ed. Lippincott Williams & Wilkins.
  • Sellke FW, del Nido PJ, Swanson SJ. Sabiston & Spencer Surgery of the Chest. 9th ed. Elsevier.
  • Pearson FG, et al. Thoracic Surgery. 3rd ed. Churchill Livingstone.

Current guidelines & resources