Pleuropulmonary blastoma

Common Name(s)

Pleuropulmonary blastoma

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 ({5: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 ({6: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 {1: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 {7:Slade et al., 2011}).
 

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Condition Specific Organizations

Following organizations serve the condition "Pleuropulmonary blastoma" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pleuropulmonary blastoma" returned 19 free, full-text research articles on human participants. First 3 results:

Reply: Serum microRNA screening for DICER1-associated pleuropulmonary blastoma.
 

Author(s): Kris Ann P Schultz, Anne Harris, Gretchen M Williams, Shari Baldinger, Leslie Doros, Patricia Valusek, A Lindsay Frazier, Louis P Dehner, Yoav Messinger, D Ashley Hill

Journal: Pediatr Blood Cancer. 2014 Dec;61(12):2331-2.

 

Last Updated: 20 Oct 2014

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Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder.
 

Author(s): Douglas R Stewart, Yoav Messinger, Gretchen M Williams, Jiandong Yang, Amanda Field, Kris Ann P Schultz, Laura A Harney, Leslie A Doros, Louis P Dehner, D Ashley Hill

Journal: Hum. Genet.. 2014 Nov;133(11):1443-50.

 

Nasal chondromesenchymal hamartoma (NCMH) is a rare nasal tumor that typically presents in young children. We previously reported on NCMH occurrence in children with pleuropulmonary blastoma (PPB), a rare pulmonary dysembryonic sarcoma that is the hallmark neoplasm in the PPB-associated ...

Last Updated: 4 Oct 2014

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Judicious DICER1 testing and surveillance imaging facilitates early diagnosis and cure of pleuropulmonary blastoma.
 

Author(s): Kris Ann P Schultz, Anne Harris, Gretchen M Williams, Shari Baldinger, Leslie Doros, Patricia Valusek, A Lindsay Frazier, Louis P Dehner, Yoav Messinger, D Ashley Hill

Journal: Pediatr Blood Cancer. 2014 Sep;61(9):1695-7.

 

Pleuropulmonary blastoma (PPB) and Sertoli-Leydig cell tumor (SLCT) are both associated with germline mutations in DICER1. In this brief report, a maternal history of SLCT led to identification of a deleterious DICER1 mutation in the patient and her asymptomatic infant. Radiographic ...

Last Updated: 21 Jul 2014

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Reviews from the PubMed Database

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The terms "Pleuropulmonary blastoma" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

International Pleuropulmonary Blastoma (PPB) Treatment and Biology Registry
 

Status: Recruiting

Condition Summary: Pleuropulmonary Blastoma

 

Last Updated: 3 Feb 2015

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DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study
 

Status: Recruiting

Condition Summary: Pleuropulmonary Blastoma; Cystic Nephroma; Ovarian Sertoli-Leydig Cell Tumors; Ocular Medulloepithelioma; Nasal Chondromesenchymal Hamartoma

 

Last Updated: 11 Nov 2014

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Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome
 

Status: Recruiting

Condition Summary: Pleuropulmonary Blastoma; Cystic Nephroma; Sertoli-Leydig Cell Tumor of Ovary; Medulloepithelioma; Embryonal Rhabdomyosarcoma of Cervix

 

Last Updated: 9 Sep 2014

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