call 1800 257 600 email [email protected]

Germinoma

Germinomas are a rare type of tumour that develops from germ-cells. In most cases, germinomas develop in the midline structures of the brain, most commonly in the pineal, suprasellar, basal ganglia and thalamus regions. However, in very rare cases they can develop in the mediastinum, retroperitoneum or sacrococcygeal region.

Germ cell tumours are a rare group of neoplasms that arise from primordial germ cells – the cells responsible for developing into reproductive cells (gametes) such as ovum and sperm. These tumours typically originate in the gonads, which are the organs that produce gametes (ovaries in females and the testicles in males). These tumours are referred to as gonadal germ cell tumours. In some cases, germ cells can migrate to other parts of the body during early embryonic development, leading to tumour formation outside of the gonads later in life. These are known as extragonadal germ cell tumours, and are most commonly found in the brain, mediastinum, retroperitoneum, or sacrococcygeal region.

Ovarian dysgerminomas, seminomas, and germinomas share similar histological characteristics and are often considered to be the same tumour, with the name of the tumour varying according to anatomical location. When arising in the ovary, the tumour is termed a dysgerminoma; in the testis, it is called a seminoma; and when occurring at extragonadal sites – most commonly within the central nervous system – it is referred to as a germinoma.

Germinomas are slightly more common in males, and tend to be diagnosed in children between the ages of 10-12. However, anyone can develop this disease.

Treatment

When cancers are detected, they are staged and graded based on size, metastasis, and how the cancer cells look under the microscope. Staging and grading helps your doctors determine the best treatment for you. However, because of how rare germinomas are, there is currently no standard staging and grading system for this disease. Instead of staging and grading, your doctor will recommend a treatment plan based on the following factors:

  • Cancer location.
  • Whether or not the cancer has metastasised.
  • Your age.
  • General health.
  • Your treatment preferences.

Your doctor may also recommend genetic testing, which analyses your tumour DNA and can help determine which treatment has the greatest chance of success. They will then discuss the most appropriate treatment option for you.

Treatment options for germinomas may include:

  • Chemotherapy.
  • Radiation therapy.
  • Surgery – generally limited to biopsy and treatment of obstructive hydrocephalus.
  • Clinical trials.
  • Palliative care.

Risk factors

Because of how rare germinomas are, there has been limited research done into the risk factors of this disease.

Symptoms

Symptoms of germinomas vary based on location.

General Symptoms

General symptoms of germinomas include:

  • General weakness.
  • Irritability.
  • Headache.
  • Nausea and/or vomiting.
  • Changes in mental status.
  • Seizures.
  • Endocrine abnormalities.
  • Delayed puberty.

Symptoms of Germinomas in the Pinel Gland Region

  • Hydrocephalus, which carries its own set of symptoms:
  • Headaches.
  • Nausea and/or vomiting.
  • Difficulties with eye movement.
  • Difficulties with balance.
  • Difficulties with walking.
  • Fatigue.
  • Memory problems.
  • Seizures.
  • Behavioural and/or cognitive changes.
  • Vision changes, such as double vision and difficulty looking up.
  • Parinaud’s syndrome

Symptoms of Germinomas in Suprasellar and Pituitary Gland Regions

  • Irregular sleep.
  • Early puberty in children.
  • Delayed puberty in children.
  • Stunted growth in children.
  • Changes in eyesight, such as loss of peripheral vision or loss of vision.
  • Diabetes insipidus (disorder causing fluid imbalance in the body), which carries its own set of symptoms:
  • Polyuria.
  • Intense thirst.
  • Isolated growth hormone deficiency, which carries its own set of symptoms:
  • Poor growth.
  • Impaired hair and/or nail growth.
  • Delayed development of teeth.
  • Delayed puberty.
  • Hypoglycaemia in infants and toddlers.
  • Decreased energy levels.
  • Increased fat around the face and/or abdomen.

Symptoms of Germinomas in the Basal Ganglia and Thalamus Regions

  • Cognitive abnormalities.
  • Changes to mental status.
  • Hemiparesis (muscle weakness on one side of the body).
  • Dystonia.
  • Rigidity.
  • Bradykinesia (decreased movement and/or speed).
  • Dyskinesia (uncontrolled, involuntary movements).

Not everyone with the symptoms above will have cancer, but see your general practitioner (GP) if you are concerned.

Diagnosis

If your doctor suspects you have a germinoma, they may order the following tests to confirm the diagnosis and refer you to a specialist for treatment:

  • Physical examination.
  • Neurological examination.
  • Blood tests.
  • Endocrine studies.
  • Imaging tests, potentially including:
    • MRI (magnetic resonance imaging).
    • CT (computed tomography) scan.
  • Lumbar puncture.

References

Keep up with Rare Cancers Australia

Inside Rare is a monthly newsletter that shares the latest news, events and stories connecting the rare community.