Pleuropulmonary Blastoma

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What is a Pleuropulmonary Blastoma?

The Pleuropulmonary blastoma (PPB) is a rare, cancer of the chest, which is usually observed in children under 5 years. It originates from primitive lung and pleural tissues. The cancer mainly affects the lungs but can spread to the pleura (linings in the chest), the mediastinum ( soft tissues in the center of the chest) or diaphragm.

Who gets Pleuropulmonary Blastoma and why?

Usually very young children. The cause is unknown but some children have a genetic disease that affects a gene called DICER1 which predisposes to PPB. Malformations of the lung, such as congenital cystic adenomatoid disease (CCAM) may be associated with the development of this type of cancer.

Is there a risk of brothers / sisters developing the same cancer or other types of cancer ?

The risk is possible, and in families with specific genetic diseases described above – predisposes to PPB and other rare tumors. Genetic investigations and counseling are recommended in this disease. In this situation, some other locations such as the thyroid or ovary should be checked on a regular basis.

Are Pleuropulmonary Blastomas all the same?

PPB is classified into three subtypes:

  • Type 1-only the cystic areas, with a better prognosis;
  • Type 2-with both cystic and solid areas;
  • Type 3-only solid areas which is more difficult to treat.

What are the typical symptoms and signs of Pleuropulmonary Blastoma?

Pleuropulmonary Blastoma may present with difficulty in breathing, fever, cough, chest pain, weakness, and in most cases the initial diagnosis is confused with persistent pneumonia.

Which investigations are necessary for a child with Pleuropulmonary Blastoma?
After being diagnosed with PPB usually with a chest xray, your child may have further tests to check the size and position of the cancer and whether it has spread to other parts of their body. Tests may include:

  • MRI (magnetic resonance imaging) scan – this uses magnetism to build up a picture of your body.
  • CT (computerised tomography) scan – this uses x-rays to build up a three-dimensional picture of the inside of your body.

Are there different stages of the disease?

PPB can be localized and just in the chest. If it has spread to other parts of the body then it is metastatic.

What about the Pleuropulmonary Blastoma treatment?

Surgery

In some cases the initial surgery with complete removal of the tumor is possible espescially in type I PPB. When the disease is initially difficult to remove or with distant spread, a biopsy is usually performed only. Surgery may occur later after chemotherapy has been given to shrink the tumour.

Chemotherapy

Pleuropulmonary Blastomas are sensitive to chemotherapy drugs. The role and the type of chemotherapy so far is not completely defined, but it seems to improve the chances of long term cure. Most children with type II or III PPB receive chemotherapy espescially when the only surgery at diagnosis is a biopsy.

Radiotherpy

The role of radiotherapy remains controversial and experts in multidisciplinary meetings will usually discuss if there is a role for this in your child’s case.

What are the results of treatment?

The most important factors that determine a good outcome is the absence of spread and a complete removal of the tumour with surgery. The best outcome is with type I PPB.

What research is happening for Pleuropulmonary Blastoma?

PPB is a very rare tumor and which makes research difficult. Nevertheless, there are groups in USA and Europe that promote clinical and basic research on PPB. Specific genetic alterations have been found that allows us to identify patients and families at risk of developing PPB and other rare tumors.

What EXPert is doing for children with Pleuropulmonary Blastoma?

The EXPert group is working for children with PPB in many ways:

  • Collecting data of children with PPB among all European countries
  • Creating guidelines for diagnosis and treatment with the goal to optimize the chance of cure for all children
  • Giving advice in difficult cases to the responsible clinician at a European level and worldwide
  • Collaborating with other Groups to improve knowledge on PPB.