What is pleuropulmonary blastoma?
Pleuropulmonary blastoma (PPB) is a rare type of cancer that starts in the lungs or the lining around the lungs (pleura). In rare cases, it can also develop in the space between the lungs (mediastinum) or involve nearby structures. PPB usually occurs in children under 6 years old.
PPB happens when abnormal cells grow in the lungs or chest area and form tumors. These tumors can vary in severity, depending on the type of PPB.
Treatments for PPB may include surgery, chemotherapy, radiation, or a combination of these. Prognosis depends on specific features of the tumor, whether the cancer is new or has come back, and if it has spread.
Symptoms of pleuropulmonary blastoma
Signs and symptoms of PPB include:
- Trouble breathing or shortness of breath
- Chest pain
- Pain in the abdomen (belly)
- A cough that does not go away
- Fevers over 100.4˚F (38˚C) that have no known cause
- Unexplained weight loss
- Weakness or feeling very tired
- Collapsed lung (pneumothorax)
PPB symptoms are often similar to a lung infection (pneumonia) or bronchitis. See a health care provider if symptoms do not get better with treatment. Early diagnosis and treatment can improve outcomes.
Risk factors for pleuropulmonary blastoma
PPB is rare. The exact cause is not always known. But certain gene changes or inherited conditions may increase the risk of developing PPB. Some children with PPB have a change (mutation) in the DICER1 gene or a family history of DICER1 syndrome.
If you have concerns about your family’s health history, ask your health care provider about genetic counseling and testing. It can help identify risks for other family members and guide future health decisions.
Diagnosis of pleuropulmonary blastoma
Tests to diagnose PPB may include:
- Physical exam and health history to learn about symptoms, general health, past illness, and risk factors
- Imaging tests such as x-rays, CT scan, PET scan, ultrasound, or MRI to look for tumors in the chest area
- Bronchoscopy to look inside the trachea (windpipe) and lungs using a thin tube with a light
- Thoracoscopy to look inside the chest using a small camera inserted through a tiny cut
- Biopsy to remove a small piece of the tumor and look at the tissue under a microscope to check for cancer cells
- Immunohistochemistry to check for certain proteins in tissue samples to help confirm the diagnosis
- Genetic testing to check for changes in the DICER1 gene
Types of pleuropulmonary blastoma
There are 4 types of PPB:
- Type 1 PPB: Type 1 tumors are made up of air pockets (cysts) that show early signs of cancer. This type is the most common in children under age 3.
- Type 1r PPB: These tumors are similar to Type 1 but do not contain cancer cells. The “r” stands for “regressed.” This means the cysts may have changed or not grown into cancer.
- Type 2 PPB: Type 2 tumors include both air-filled cysts and solid parts.
- Type 3 PPB: Type 3 tumors are fully solid tumors.
Type 1 PPB can sometimes return (recur) as Type 2 or 3 because the abnormal cells in the cysts can grow and develop into cancer.
Types 2 and 3 are most common in children older than 2 years. Tumors can spread to other parts of the body. The brain is the most common location for spread or recurrence outside the lung.
Knowing the type of PPB helps doctors decide the best treatment plan.
Treatment of pleuropulmonary blastoma
Treatment for PPB depends on the tumor type. Common treatments include:
Surgery for PPB
Surgery to remove the tumor is the main treatment for all types of PPB. For children with Type 1 and Type 1r PPB, children may only need surgery and close monitoring without other treatment.
Chemotherapy for PPB
Chemotherapy may be used to shrink the tumor before surgery in Type 2 and Type 3 PPB. Chemotherapy is used after surgery to help prevent recurrence. Chemotherapy drugs used to treat PPB may include:
Radiation therapy for PPB
Radiation therapy may be used to target cancer cells for some children with Type 3 PPB. It is usually used only if surgery cannot completely remove the tumor or if the cancer has come back after treatment.
Prognosis for pleuropulmonary blastoma
The outlook for children with PPB depends on the type of tumor and how early it is diagnosed.
Type 1 and Type 1r PPB often have good outcomes, especially if the tumor is completely removed with surgery.
Type 2 and Type 3 PPB are more aggressive, and the outcomes are more variable. These tumors are more likely to spread to the brain or other parts of the body, but many children respond well to treatment.
Tumors that have spread to other parts of the body or recur after treatment are harder to treat.
Your child’s care team is the best source of information about your child’s case.
Support for patients with pleuropulmonary blastoma
After treatment for PPB, regular checkups are important to make sure the cancer has not come back. These follow-up visits may include scans, physical exams, and blood tests. Early detection of recurrence can help doctors start treatment quickly if needed.
Families should also talk to their care team about genetic testing and counseling. Some types of PPB are linked to changes in certain genes. This could affect other family members or increase your child’s risk for future health problems. Children with DICER 1 syndrome are at higher risk for other tumors in the kidneys, thyroid, ovaries, brain, and other parts of the body. The tumors may be malignant (cancer) or benign (not cancer).
After surgery to remove part of a lung, your child may need support to adjust to changes in breathing or activity.
Some treatments for PPB, such as chemotherapy or radiation, can cause long-term side effects. These may include problems with growth, learning, or how well certain organs work. Your care team will help watch for these issues and recommend a survivorship care plan. They can also connect you with other care providers to help manage any long-term effects.
Questions to ask your care team
