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

This study is currently recruiting participants. (see Contacts and Locations)
Verified December 2015 by Children's Research Institute
Information provided by (Responsible Party):
D. Ashley Hill, M.D., Children's Research Institute
ClinicalTrials.gov Identifier:
First received: November 29, 2007
Last updated: December 11, 2015
Last verified: December 2015
Pleuropulmonary Blastoma (PPB) is a rare lung tumor which develops in childhood. The underlying genetic factors which contribute to the development and progression of PPB are not defined. We are working to identify the genetic factors which may contribute to the development of this rare tumor.

Pleuropulmonary Blastoma
Cystic Nephroma
Sertoli-Leydig Cell Tumor of Ovary
Embryonal Rhabdomyosarcoma of Cervix
Pituitary Tumors
Wilms Tumor

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome

Resource links provided by NLM:

Further study details as provided by Children's Research Institute:

Primary Outcome Measures:
  • Identify the genetic factors which contribute to the development or progression of pleuropulmonary blastoma [ Time Frame: 10 years ] [ Designated as safety issue: No ]

Secondary Outcome Measures:
  • Define the clinical features of the pleuropulmonary blastoma (PPB) familial cancer syndrome. [ Time Frame: 10 years ] [ Designated as safety issue: No ]

Biospecimen Retention:   Samples With DNA
We are collecting blood samples or saliva samples. When available, we also collect tumor samples from prior surgical procedures.

Estimated Enrollment: 2000
Study Start Date: March 2005
Estimated Study Completion Date: December 2020
Estimated Primary Completion Date: December 2016 (Final data collection date for primary outcome measure)
Detailed Description:
Studies of inherited cancer syndromes have provided unique opportunities to uncover and explain important cellular pathways with broad relevance to both sporadic cancers and human development. This proposal studies the cancer predisposition syndrome originally described as a familial form of pleuropulmonary blastoma (PPB). PPB is a rare, aggressive lung cancer that affects young children. Children with PPB and/or their family members are at increased risk for a number of rare conditions, including Wilms tumor, rhabdomyosarcoma, brain tumors, ovarian tumors and nodular hyperplasia of the thyroid gland. In 2009, we mapped a PPB locus and identified germline, loss of function mutations in one copy of DICER1 as the genetic basis of this syndrome. DICER1 encodes a protein that performs the final critical step in maturation of microRNAs (miRNAs). miRNAs are an important form of gene regulation. The syndrome's varied nature is likely attributable to the various roles of miRNAs during different developmental and/or functional circumstances. This study focuses on defining the full phenotype of this cancer predisposition syndrome including penetrance, expressivity in children and adults, pathologic classification of disease and spectrum of predisposing DICER1 mutations. Improved understanding of the clinical and genetic features of this cancer predisposition syndrome is essential to facilitate early diagnosis when the diseases are most curable, and to create genetic counseling and educational materials to guide medical care.

Ages Eligible for Study:   up to 95 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Families who have a child or adult with pleuropulmonary blastoma or cystic nephroma are invited to participate.

Inclusion Criteria:

  • Child or adult diagnosed with pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma of uterine cervix, ovarian Sertoli-Leydig tumor or gynandroblastoma, pineoblastoma, pituitary blastoma, nasal chondromesenchymal hamartoma, medulloepithelioma, Wilms tumor, germline or mosaic DICER1 mutation

Exclusion Criteria:

  • child or adult who does not fig inclusion criteria as listed above
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00565903

Contact: Dana Ashley Hill, M.D. 202-476-2051 dashleyhill@gmail.com
Contact: Amanda Field 202-476-2051 afield@childrensnational.org

United States, District of Columbia
Children's National Medical Center Recruiting
Washington, District of Columbia, United States, 20010
Contact: D Ashley Hill, MD    202-476-2051    dashill@childrensnational.org   
Contact: Leslie Doros, MD    202-476-2051    ldoros@childrensnational.org   
Principal Investigator: Ashley Hill, MD         
Sponsors and Collaborators
D. Ashley Hill, M.D.
Study Chair: D. Ashley Hill, MD Children's Research Institute
Study Director: Yoav Messinger, MD Children's Hospital and Clinics of Minnesota
  More Information

Additional Information:
Responsible Party: D. Ashley Hill, M.D., MD, Division Chief Pathology, Children's Research Institute
ClinicalTrials.gov Identifier: NCT00565903     History of Changes
Other Study ID Numbers: 05-0192 / 201012830 
Study First Received: November 29, 2007
Last Updated: December 11, 2015
Health Authority: United States: Institutional Review Board

Keywords provided by Children's Research Institute:
pleuropulmonary blastoma
cystic nephroma

Additional relevant MeSH terms:
Leydig Cell Tumor
Ovarian Neoplasms
Pituitary Neoplasms
Pulmonary Blastoma
Rhabdomyosarcoma, Embryonal
Sertoli-Leydig Cell Tumor
Wilms Tumor
Adnexal Diseases
Brain Diseases
Brain Neoplasms
Central Nervous System Diseases
Central Nervous System Neoplasms
Endocrine Gland Neoplasms
Endocrine System Diseases
Genetic Diseases, Inborn
Genital Diseases, Female
Genital Diseases, Male
Genital Neoplasms, Female
Genital Neoplasms, Male
Gonadal Disorders
Hypothalamic Diseases
Hypothalamic Neoplasms
Kidney Diseases
Kidney Neoplasms
Lung Neoplasms
Neoplasms by Histologic Type
Neoplasms by Site

ClinicalTrials.gov processed this record on May 02, 2016