Overview
Pleuropulmonary blastoma (PPB) is a rare and aggressive cancer that starts in the lung or the lining around the lung (called the pleura). It mainly affects young children, usually under the age of 6. PPB is sometimes called a childhood lung tumor or pediatric lung blastoma. There are three main types: Type I (cystic, fluid-filled), Type II (mixed solid and cystic), and Type III (fully solid). Type I tends to have a better outlook, while Types II and III are more aggressive and harder to treat. The tumor can cause breathing problems, chest pain, and a persistent cough. Some children may seem tired, lose weight, or develop a fever without a clear cause. Because PPB is so rare, it is often mistaken for other lung conditions at first, which can delay diagnosis. Treatment usually involves surgery to remove the tumor, followed by chemotherapy. Radiation therapy may also be used in some cases. PPB is strongly linked to changes in the DICER1 gene, and families with this gene change may have a higher risk of other related tumors. Early diagnosis and treatment at a specialized center give children the best chance of a good outcome.
Key symptoms:
Shortness of breath or difficulty breathingPersistent cough that does not go awayChest painUnexplained feverFatigue or low energyUnintended weight lossRapid breathingBluish tint to the lips or fingernails (in severe cases)Decreased appetiteRecurrent respiratory infections
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
FDA & Trial Timeline
1 eventChildren's Hospitals and Clinics of Minnesota
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Pleuropulmonary blastoma.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Pleuropulmonary blastoma.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What type of PPB does my child have, and how does that affect the treatment plan and prognosis?,Should our whole family be tested for DICER1 gene changes, and what does a positive result mean for us?,What are the short-term and long-term side effects of the chemotherapy drugs being recommended?,How often will my child need imaging scans after treatment to check for recurrence?,Is there a clinical trial that my child might be eligible for?,What signs of recurrence or new tumors should I watch for at home?,Are there support services or patient organizations that can help our family during and after treatment?
Common questions about Pleuropulmonary blastoma
What is Pleuropulmonary blastoma?
Pleuropulmonary blastoma (PPB) is a rare and aggressive cancer that starts in the lung or the lining around the lung (called the pleura). It mainly affects young children, usually under the age of 6. PPB is sometimes called a childhood lung tumor or pediatric lung blastoma. There are three main types: Type I (cystic, fluid-filled), Type II (mixed solid and cystic), and Type III (fully solid). Type I tends to have a better outlook, while Types II and III are more aggressive and harder to treat. The tumor can cause breathing problems, chest pain, and a persistent cough. Some children may seem t
How is Pleuropulmonary blastoma inherited?
Pleuropulmonary blastoma follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Pleuropulmonary blastoma typically begin?
Typical onset of Pleuropulmonary blastoma is childhood. Age of onset can vary across affected individuals.
Are there clinical trials for Pleuropulmonary blastoma?
Yes — 1 recruiting clinical trial is currently listed for Pleuropulmonary blastoma on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Pleuropulmonary blastoma?
10 specialists and care centers treating Pleuropulmonary blastoma are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.