Pleuropulmonary Blastoma (PPB)

Pleuropulmonary blastoma (PPB) is a type of cancer that primarily affects children. It often develops in the tissues of the lung and the pleura, but can develop in the organs located in the mediastinum such as the heart, trachea and oesophagus.

The respiratory system is composed of the nose, mouth, trachea (windpipe) and airways (bronchi and bronchioles) that lead to the lungs, which is where the breathing process primarily occurs. Each lung is made up of lobes, with the right lung being composed of three lobes and the left only having two lobes to accommodate room for the heart. The lungs sit on top of a muscle called the diaphragm, which separates the abdomen from the chest. The diaphragm works by contracting/flattening when we inhale, pulling air into the lungs. When we exhale, the diaphragm relaxes and pushes air out of the lungs. The space between the lungs is called the mediastinum, and holds several important structures, including the heart, trachea, oesophagus and lymph nodes.

Each lung is covered by a thin layer of tissues called pleurae, that protects and cushions the lungs.  There are two types of pleurae: the parietal and visceral. The parietal pleura is the thicker tissue that lines the inner surfaces of the thoracic cavity, while the visceral pleura lines the surface of the lungs.

PPB is a paediatric cancer that affects the genders equally, and tends to develop in children under the age of eight (most commonly between the ages of three and four). However, anyone can develop this disease.

Types of Pleuropulmonary Blastoma

There are three primary types of PPB, that are categorised by the characteristics of the tumour itself.

Type I Pleuropulmonary Blastoma

Type I PPB is characterised by the development of cysts in the lungs, with no evidence of solid tumour parts. These tumours may have some cancerous cells present, and generally occur in patients under three years old. Type I PPB usually has a good prognosis.

Type Ir Pleuropulmonary Blastoma

Type Ir PPB is a subtype of type I PPB that shares the same characteristics, without the presence of cancerous cells. The ‘r’ after type I stands for regressed, which means the cysts have gotten smaller.

Type II Pleuropulmonary Blastoma

Type II PPB shows evidence of cysts and solid tumour parts with cancerous cells. This type of PPB often develops in children around three years old, and can metastasise (spread) to the brain and/or other parts of the body. Type II PPB may be aggressive, and may not have as good of a prognosis as type I PPB.

Type III Pleuropulmonary Blastoma

Type III PPB is a completely solid cancerous tumour that often develops around four years of age. It is often aggressive, likely to metastasise, and may not have as good of a prognosis as other PPB subtypes.

Some of the information regarding types of PPB was obtained from the Childhood Pleuropulmonary Blastoma Treatment (PDQ) page published by the National Cancer Institute.

Treatment

If PPB is detected, it will be 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.

Due to the rarity of this disease, the staging system for this tumour solely relies on determining the type of PPB you have. The factors taken into consideration when staging your tumour may include:

  • Presence of cysts.
  • Presence of solid tumour.
  • Presence of cancerous cells.
  • Rate of metastasis (if any).

Your doctor may also recommend genetic testing, which analyses your tumour DNA and can help determine which treatment has the greatest chance of success. This is often performed after a biopsy and can help guide treatment options for you.

Treatment is dependent on several factors, including age, stage of disease and overall health.

Treatment options for PPB may include:

  • Surgery, potentially including:
    • Lobectomy.
    • Extrapleural pneumonectomy.
  • Chemotherapy.
  • Radiation therapy (only in patients with PPB types II and III).
  • Watch and wait (only in patients with type Ir PPB).
  • Clinical trials.
  • Palliative care.

Risk factors

Due to the rarity of PPB, there have been very few risk factors identified. The factors found to potentially increase your risk of developing this disease include:

  • Having a mutation of the DICER1 gene.
  • Having a family history of cancer.

Not everyone with these risk factors will develop the disease, and some people who have the disease may have none of these risk factors. See your general practitioner (GP) if you are concerned.

Symptoms

PPB may be asymptomatic in the early stages of the disease. As the tumour develops, some symptoms may occur, including:

  • Persistent cough.
  • Difficulty breathing.
  • Unexplainable shortness of breath.
  • Fevers.
  • Persistent lung infections, such as pneumonia.
  • Unexplainable weight loss and/or loss of appetite.
  • Chest pain.

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 PPB, they may order the following tests to confirm the diagnosis and refer you to a specialist for treatment:

  • Physical examination.
  • Imaging tests, potentially including:
    • Chest x-ray.
    • CT (computed tomography) scan.
    • MRI (magnetic resonance imaging).
  • Blood tests.
  • Exploratory surgery, potentially including:
    • Bronchoscopy.
    • Mediastinoscopy.
    • Thoracoscopy.
  • Biopsy.

References

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