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. [ NCIT:C5669 ]
Synonyms: pulmonary blastoma of childhood pleuropulmonary blastoma pleuropulmonary blastoma (morphologic abnormality) pediatric pulmonary blastoma childhood pulmonary blastoma paediatric pulmonary blastoma
Term information
- DOID:4769 (MONDO:equivalentTo)
- GARD:8757 (MONDO:GARD)
- NANDO:2200080 (https://orcid.org/0000-0003-0011-764X)
- EFO:0009052 (MONDO:equivalentTo)
- ICDO:8973/3 (NCIT:C5669)
- MESH:C537516 (Orphanet:64742/e)
- ICD9:162.9 (MONDO:relatedTo)
- ONCOTREE:PPB (MONDO:equivalentTo)
- Orphanet:64742 (OMIM:601200)
- OMIM:601200 (Orphanet:64742/e)
- UMLS:C1266144 (MONDO:equivalentTo)
- NCIT:C5669 (MONDO:exact-label-match)
- SCTID:707670009 (MONDO:equivalentTo)
- MEDGEN:266105 (MONDO:equivalentTo)
gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare
https://omim.org/entry/601200
http://purl.obolibrary.org/obo/DOID_4769
http://www.orpha.net/ORDO/Orphanet_64742
http://identifiers.org/medgen/266105
http://identifiers.org/mesh/C537516
http://linkedlifedata.com/resource/umls/id/C1266144
http://purl.obolibrary.org/obo/NCIT_C5669
http://identifiers.org/snomedct/707670009
PPB
PPB familial tumour and dysplasia syndrome
PPB familial tumor and dysplasia syndrome