RESUMEN

Pleuropulmonary blastoma (PPB) is the most common primary malignant neoplasm of the lung in children. Like other solid dysontogenic neoplasms, this tumor typically presents before 7 years of age. The earliest manifestation is the presence of a lung cyst(s), which is usually recognized in the first year of life and is difficult to differentiate on the basis of imaging studies from non-neoplastic cysts of early childhood. From a multilocular cyst, PPB has the potential to progress to a high-grade multipatterned primitive sarcoma. More than 65% of all affected children have a heterozygous germline mutation in DICER1. The DICER1 PPB familial tumor predisposition syndrome is initially recognized in most cases on the basis of PPB alone but also by several other unique and characteristic extrapulmonary tumors, including pediatric cystic nephroma, nasal chondromesenchymal hamartoma, nodular lesions of the thyroid, embryonal rhabdomyosarcoma of the cervix, and ciliary body medulloepithelioma.

Asunto(s)

Neoplasias Pulmonares/patología , Síndromes Neoplásicos Hereditarios/patología , Blastoma Pulmonar/patología , Biopsia , Preescolar , ARN Helicasas DEAD-box/genética , Femenino , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal , Historia del Siglo XX , Historia del Siglo XXI , Humanos , Neoplasias Pulmonares/clasificación , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/historia , Masculino , Síndromes Neoplásicos Hereditarios/clasificación , Síndromes Neoplásicos Hereditarios/genética , Síndromes Neoplásicos Hereditarios/historia , Fenotipo , Pronóstico , Blastoma Pulmonar/clasificación , Blastoma Pulmonar/genética , Blastoma Pulmonar/historia , Ribonucleasa III/genética , Terminología como Asunto , Tomografía Computarizada por Rayos X