title: Pleuropulmonary Blastoma: Evolution of an Entity as an Entry into a Familial Tumor Predisposition Syndrome.
abstract: 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.
authors.affiliation: 1 International Pleuropulmonary Blastoma Registry, Children's Hospital and Clinics of Minnesota, Minneapolis, MN 55404, USA.|2 Lauren V. Ackerman Laboratory of Surgical Pathology, Barnes-Jewish and St. Louis Children's Hospitals, Washington University Medical Center, St. Louis, MO 63110, USA.
authors.forename: Louis P
authors.initials: LP
authors.lastname: Dehner
authors.affiliation: 1 International Pleuropulmonary Blastoma Registry, Children's Hospital and Clinics of Minnesota, Minneapolis, MN 55404, USA.
authors.forename: Yoav H
authors.initials: YH
authors.lastname: Messinger
authors.affiliation: 1 International Pleuropulmonary Blastoma Registry, Children's Hospital and Clinics of Minnesota, Minneapolis, MN 55404, USA.
authors.forename: Kris Ann P
authors.initials: KA
authors.lastname: Schultz
authors.affiliation: 1 International Pleuropulmonary Blastoma Registry, Children's Hospital and Clinics of Minnesota, Minneapolis, MN 55404, USA.
authors.forename: Gretchen M
authors.initials: GM
authors.lastname: Williams
authors.affiliation: 1 International Pleuropulmonary Blastoma Registry, Children's Hospital and Clinics of Minnesota, Minneapolis, MN 55404, USA.|3 Division of Pathology and Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, and Department of Pathology, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA.
authors.forename: Kathryn
authors.initials: K
authors.lastname: Wikenheiser-Brokamp
authors.affiliation: 1 International Pleuropulmonary Blastoma Registry, Children's Hospital and Clinics of Minnesota, Minneapolis, MN 55404, USA.|4 Division of Pathology, Children's National Medical Center, Washington, DC 20010, USA.
authors.forename: D Ashley
authors.initials: DA
authors.lastname: Hill
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D053487:DEAD-box RNA Helicases / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D008175:Lung Neoplasms / Q000145:classification / Q000235:genetics / Q000266:history / Q000473:pathology*; D008297:Male; D009386:Neoplastic Syndromes, Hereditary / Q000145:classification / Q000235:genetics / Q000266:history / Q000473:pathology*; D010641:Phenotype; D011379:Prognosis; D018202:Pulmonary Blastoma / Q000145:classification / Q000235:genetics / Q000266:history / Q000473:pathology*; D043244:Ribonuclease III / Q000235:genetics; D009626:Terminology as Topic; D014057:Tomography, X-Ray Computed
chemical_list: C408087:DICER1 protein, human; D043244:Ribonuclease III; D053487:DEAD-box RNA Helicases
keywords: DICER1; cystic nephroma; lung; pleuropulmonary blastoma; rhabdomyosarcoma