Pleuropulmonary blastoma

Preferred Label : Pleuropulmonary blastoma;

Symbol : PPB;

CISMeF acronym : PPB; PPBFTDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PPBFTDS; Ppb familial tumor and dysplasia syndrome;

Description : Pleuropulmonary blastoma (PPB) is a rare pediatric tumor of the lung that arises during fetal lung development and is often part of an inherited cancer syndrome (Hill et al., 2009). PPBs contain both epithelial and mesenchymal cells. Early in tumorigenesis, cysts form in lung airspaces, and these cysts are lined with benign-appearing epithelium. Mesenchymal cells susceptible to malignant transformation reside within the cyst walls and form a dense 'cambium' layer beneath the epithelial lining. In a subset of patients, overgrowth of the mesenchymal cells produces a sarcoma, a transition that is associated with a poorer prognosis (Priest et al., 1996). In approximately 35% of families in which a child has PPB, the patient or a family member manifests 1 or more additional conditions from an unusual array of dysontogenetic-dysplastic and malignant conditions, known as the 'PPB family tumor and dysplasia syndrome' (PPBFTDS). Cystic nephroma, which are benign lesions of the kidney, are found in 9 to 10% of family members affected by PPB (summary by Bahubeshi et al., 2010). Larger studies have shown that DICER1 mutations are associated with a variety of tumor types, indicating that this disorder can be considered a tumor predisposition syndrome (summary by Slade et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of the Drosophila dicer 1 gene (DICER1, 606241.0001);

Neoplasia : Associated with other malignancies; Rhabdomyosarcoma; Medulloblastoma;

Prefixed ID : #601200;

Details

Origin ID

601200;

UMLS CUI

C3839822;

Automatic exact mappings (from CISMeF team)
- DICER1 tumor-predisposition syndrome [ORDO Disease]
- Part Per Billion [NCIt concept]
- Parts per billion (qualifier value) [SNOMED CT concept]
- Pleuro-pulmonary blastoma [ICD-11 More detail]
- Pleuropulmonary blastoma [ICD-11 Extension code]
- Pleuropulmonary blastoma [MedDRA Preferred Term]
- Polybrominated biphenyl [LOINC component]
- Polybrominated biphenyl (substance) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Pleuropulmonary Blastoma [NCIt concept]
- Pleuropulmonary blastoma [ICD-O code]
- Pleuropulmonary blastoma [HPO term]
- Pleuropulmonary blastoma [MeSH concept]
- Pleuropulmonary blastoma [ORDO Disease]
- Pleuropulmonary blastoma [HRDO Sign]
- Pleuropulmonary blastoma (disorder) [SNOMED CT concept]
- Pleuropulmonary blastoma (morphologic abnormality) [SNOMED CT concept]
- pleuropulmonary blastoma [DO Concept]
- pleuropulmonary blastoma [Disease (Nov.)]
- pleuropulmonary blastoma [MeSH Supplementary Concept]
DO Cross reference
- pleuropulmonary blastoma [DO Concept]
Genes related to phenotype
- Dicer 1, ribonuclease III [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Medulloblastoma [HPO term]
- Pleuropulmonary blastoma [HPO term]
- Rhabdomyosarcoma [HPO term]
ORDO concept(s)
- DICER1 tumor-predisposition syndrome [ORDO Disease]
- Pleuropulmonary blastoma [ORDO Disease]
See also inter- (CISMeF)
- DICER1 tumor-predisposition syndrome [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- DICER1 Syndrome [NCIt concept]
- Pleuropulmonary Blastoma [NCIt concept]
- Pleuropulmonary blastoma [MeSH concept]
- Pleuropulmonary blastoma [HPO term]
- Pleuropulmonary blastoma [ORDO Disease]
- Pleuropulmonary blastoma [HRDO Sign]
- Pleuropulmonary blastoma [ICD-O code]
- Pleuropulmonary blastoma [MedDRA Preferred Term]
- Pleuropulmonary blastoma (disorder) [SNOMED CT concept]
- Pleuropulmonary blastoma (morphologic abnormality) [SNOMED CT concept]
- Pleuropulmonary blastoma family tumor susceptibility syndrome (disorder) [SNOMED CT concept]
- pleuropulmonary blastoma [MeSH Supplementary Concept]
- pleuropulmonary blastoma [DO Concept]
- pleuropulmonary blastoma [Disease (Nov.)]

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