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Germ Cell Tumour: Causes, Symptoms & Treatment

A germ cell tumour is a growth arising from germ cells. It can be benign or malignant and most commonly develops in the gonads.

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Things worth knowing about "Germ cell tumour"

A germ cell tumour is a growth arising from germ cells. It can be benign or malignant and most commonly develops in the gonads.

What Is a Germ Cell Tumour?

A germ cell tumour is a type of tumour that arises from germ cells – the precursor cells of the reproductive cells (eggs in females and sperm in males). These cells form during early embryonic development and normally migrate to the gonads (ovaries or testes). If this migration is incomplete, germ cells can remain at other sites in the body and give rise to tumours.

Germ cell tumours can be either benign or malignant. They are among the most common tumours in children and young adults.

Causes and Risk Factors

The exact causes of germ cell tumours are not fully understood. However, several risk factors have been identified:

Genetic changes: Certain chromosomal abnormalities, particularly a duplication of chromosome 12p (isochromosome 12p), are commonly found in malignant germ cell tumours.
Cryptorchidism (undescended testes): Males with one or both testes that have not fully descended into the scrotum have an increased risk of testicular cancer.
Family history: A family history of germ cell tumours increases the risk.
Gonadal dysgenesis: Malformations of the gonads are associated with a higher tumour risk.

Types of Germ Cell Tumours

Germ cell tumours are classified according to their site of origin and tissue type:

Gonadal Germ Cell Tumours

Testicular tumours: These include seminomas (the most common type) and non-seminomas (e.g., embryonal carcinoma, yolk sac tumour, choriocarcinoma, teratoma).
Ovarian tumours: Common types include mature and immature teratomas, dysgerminomas, and yolk sac tumours.

Extragonadal Germ Cell Tumours

These tumours develop outside the gonads, for example in the sacrococcygeal region (near the tailbone), the mediastinum (between the lungs), the retroperitoneum (behind the peritoneum), or the brain (intracranial germ cell tumours).

Symptoms

The symptoms of a germ cell tumour depend largely on its location:

Testicular tumour: Painless swelling or hardening of the testicle, a feeling of heaviness in the scrotum.
Ovarian tumour: Abdominal pain, bloating, menstrual irregularities, a palpable mass in the lower abdomen.
Sacrococcygeal tumour (in newborns and children): Visible mass near the tailbone.
Mediastinal tumour: Cough, shortness of breath, chest pain.
Intracranial tumour: Headaches, visual disturbances, hormonal disorders.

Diagnosis

Several investigations are used to diagnose germ cell tumours:

Physical examination: Palpation of the affected area.
Imaging: Ultrasound, computed tomography (CT), or magnetic resonance imaging (MRI) to visualise the tumour and detect possible metastases.
Tumour markers in the blood: Certain proteins such as AFP (alpha-fetoprotein), β-HCG (human chorionic gonadotropin), and LDH (lactate dehydrogenase) can indicate the presence of a germ cell tumour.
Biopsy and histology: Tissue sampling to determine the exact tumour type.

Treatment

Treatment depends on the type, location, stage, and age of the patient:

Surgery

Surgical removal of the tumour is central to treatment in many cases. For testicular tumours, the affected testicle is usually completely removed (orchiectomy).

Chemotherapy

Malignant germ cell tumours generally respond very well to chemotherapy. A commonly used regimen is BEP chemotherapy (bleomycin, etoposide, cisplatin).

Radiation Therapy

Seminomas are particularly sensitive to radiation. Radiotherapy is therefore used in certain stages, for example to treat the lymph nodes.

Follow-Up Care

After completing treatment, regular check-up examinations are important to detect any possible relapse (recurrence) at an early stage.

Prognosis

The prognosis for germ cell tumours is relatively favourable compared to many other cancers. Testicular tumours in particular are among the most treatable malignant tumours. The five-year survival rate for localised stages exceeds 95 %. Even in advanced stages with metastases, good chances of cure are achievable.

References

Albers, P. et al.: Guidelines on Testicular Cancer. European Association of Urology (EAU), 2023.
World Health Organization (WHO): Classification of Tumours of the Urinary System and Male Genital Organs. 5th Edition, IARC Press, Lyon, 2022.
Horwich, A. et al.: Testicular germ-cell cancers. The Lancet, 367(9512), 754–765, 2006.

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