Pleuropulmonary blastoma: a marker for familial disease.
J Pediatr
; 128(2): 220-4, 1996 Feb.
Article
em En
| MEDLINE
| ID: mdl-8636815
OBJECTIVE: To catalog and evaluate patterns of disease in families of children with pleuropulmonary blastoma (PPB). METHODS: Data have been collected since 1988 on 45 children with PPB and their families. All pathologic materials were centrally reviewed. Preliminary molecular genetic analyses were performed when possible. RESULTS: In 12 of 45 patients, an association was found between PPB and other dysplasias, neoplasias, or malignancies in the patients with or in their young relatives. The diseases found to be associated with PPB include other cases of PPB, pulmonary cysts, cystic nephromas, sarcomas, medulloblastomas, thyroid dysplasias and neoplasias, malignant germ cell tumors, Hodgkin disease, leukemia, and Langerhans cell histiocytosis. Abnormalities of the p53 tumor suppressor gene, Wilms tumor suppressor gene (WT1), and the putative second genetic locus for Wilms tumor (WT2) were not found in preliminary investigations. CONCLUSIONS: The occurrence of PPB appears to herald a constitutional and heritable predisposition to dysplastic or neoplastic disease in approximately 25% of cases. All patients with PPB and their families should be investigated carefully. Further research of this new family cancer syndrome may provide insight into the genetic basis of these diseases.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Blastoma Pulmonar
/
Pulmão
/
Neoplasias Pulmonares
Limite:
Adult
/
Child
/
Child, preschool
/
Humans
Idioma:
En
Revista:
J Pediatr
Ano de publicação:
1996
Tipo de documento:
Article
País de afiliação:
Estados Unidos
País de publicação:
Estados Unidos