Details of Disease

General Information of Disease (ID: DIS3UCS9)

Disease Name Pleuropulmonary blastoma
Synonyms
PPB; PPB familial tumor and dysplasia syndrome; PPB familial tumour and dysplasia syndrome; pleuropulmonary blastoma (morphologic abnormality); pediatric pulmonary blastoma; paediatric pulmonary blastoma; childhood pulmonary blastoma; pulmonary blastoma of childhood; pleuropulmonary blastoma
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.
Disease Hierarchy
DISCUFBI: Pulmonary blastoma
DISYKSRF: Genetic disease
DISS6SNG: Malignant neoplasm
DIS3UCS9: Pleuropulmonary blastoma
Disease Identifiers
MONDO ID
MONDO_0011014
MESH ID
C537516
UMLS CUI
C1266144
MedGen ID
266105
HPO ID
HP:0100528
Orphanet ID
64742
SNOMED CT ID
128763002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DICER1 TTTEOPU Definitive Autosomal dominant [1]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
APOL2 OT303Q7B Strong Altered Expression [2]
FGF9 OT2SKDGM Strong Biomarker [3]
HTN1 OTH3W1RR Strong Altered Expression [2]
TARBP2 OT1QQ8H3 Strong Genetic Variation [4]
DICER1 OTTVSEY0 Definitive Autosomal dominant [1]
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References

1 Germline DICER1 mutations and familial cystic nephroma. J Med Genet. 2010 Dec;47(12):863-6. doi: 10.1136/jmg.2010.081216. Epub 2010 Oct 29.
2 Lichen planopilaris and pseudopelade of Brocq involve distinct disease associated gene expression patterns by microarray.J Dermatol Sci. 2010 Jan;57(1):27-36. doi: 10.1016/j.jdermsci.2009.10.011. Epub 2009 Nov 22.
3 Fibroblast Growth Factor 9 Regulation by MicroRNAs Controls Lung Development and Links DICER1 Loss to the Pathogenesis of Pleuropulmonary Blastoma.PLoS Genet. 2015 May 15;11(5):e1005242. doi: 10.1371/journal.pgen.1005242. eCollection 2015 May.
4 A precursor microRNA in a cancer cell nucleus: get me out of here!.Cell Cycle. 2011 Mar 15;10(6):922-5. doi: 10.4161/cc.10.6.15119. Epub 2011 Mar 15.