pleuropulmonary blastoma
Findings
No curated finding names pleuropulmonary blastoma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas.
Definition from the Mondo Disease Ontology (MONDO:0011014), read 2026-09-29. CC BY 4.0.
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Pleuropulmonary blastomaHPOHP:0100528
- 11 of 14 reported patients · Childhood onset
- MedulloblastomaHPOHP:0002885
- 1 of 86 reported patients
- RhabdomyosarcomaHPOHP:0002859
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DICER1HGNC:17098
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
Other names
5 names
Resolves to: pleuropulmonary blastoma
- Also called
- childhood pulmonary blastomapaediatric pulmonary blastomapediatric pulmonary blastomapleuropulmonary blastoma (morphologic abnormality)pulmonary blastoma of childhood