Disease Directory Pleuropulmonary Blastoma
Respiratory

Pleuropulmonary Blastoma

Also known as: PPB, pulmonary blastoma, DICER1 lung tumor

Prevalence

Fewer than 1 in 1,000,000; estimated 25–30 new cases per year in the US

Onset

Childhood (typically under age 6)

Type

Rare malignant intrathoracic tumour

Gene

DICER1

About Pleuropulmonary Blastoma

Pleuropulmonary blastoma is the most common primary malignant lung tumour in childhood and is strongly associated with germline or somatic mutations in the DICER1 gene. It is classified into three types based on tissue composition: Type I (purely cystic), Type II (mixed cystic and solid), and Type III (purely solid), with higher types carrying a worse prognosis. PPB is part of the DICER1 tumour predisposition syndrome, which also includes thyroid tumours, cystic nephroma, and other neoplasms.

Common Clinical Features

Respiratory distress or recurrent pneumonia Chest pain Cystic or solid intrathoracic mass on imaging Tension pneumothorax (Type I) Fever and malaise Haemoptysis (less common) Metastatic spread to brain or bone (advanced disease)

Clinical Trial Eligibility Tips

What to know before applying to Pleuropulmonary Blastoma trials.

DICER1 germline mutation testing is central to eligibility for DICER1 syndrome studies; pursue genetic counselling and documented mutation status early.

PPB type (I, II, or III) directly influences trial eligibility; confirm histopathological classification from a specialist paediatric pathology centre.

Many paediatric oncology trials require enrolment at or referral to an affiliated centre; contact the International PPB/DICER1 Registry for guidance on participating sites.

Patient Resources

Patient Organization

International PPB/DICER1 Registry

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Natural History Registry

International PPB/DICER1 Registry

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Orphanet

European reference resource for rare diseases (ORPHA:73034)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Pleuropulmonary Blastoma trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Pleuropulmonary Blastoma. Updated daily.

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