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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00565903
Recruitment Status : Active, not recruiting
First Posted : November 30, 2007
Last Update Posted : March 2, 2021
Information provided by (Responsible Party):
D. Ashley Hill, M.D., Children's National Research Institute

Brief Summary:
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.

Condition or disease
Pleuropulmonary Blastoma Cystic Nephroma Sertoli-Leydig Cell Tumor of Ovary Medulloepithelioma Embryonal Rhabdomyosarcoma of Cervix Goiter Sarcoma Pineoblastoma Pituitary Tumors Wilms Tumor

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.

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Study Type : Observational
Estimated Enrollment : 2000 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome
Study Start Date : March 2005
Actual Primary Completion Date : December 31, 2018
Estimated Study Completion Date : December 31, 2022

Primary Outcome Measures :
  1. Identify the genetic factors which contribute to the development or progression of pleuropulmonary blastoma [ Time Frame: 10 years ]

Secondary Outcome Measures :
  1. Define the clinical features of the pleuropulmonary blastoma (PPB) familial cancer syndrome. [ Time Frame: 10 years ]

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

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 95 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
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 fit inclusion criteria as listed above

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00565903

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United States, District of Columbia
Children's National Medical Center
Washington, District of Columbia, United States, 20010
Sponsors and Collaborators
D. Ashley Hill, M.D.
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Study Chair: D. Ashley Hill, MD Children's National Research Institute
Study Director: Kris Ann Schultz, MD Children's Hospital and Clinics of Minnesota
Additional Information:
Publications of Results:

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Responsible Party: D. Ashley Hill, M.D., MD, Division Chief Pathology, Children's National Research Institute Identifier: NCT00565903    
Other Study ID Numbers: 05-0192 / 201012830
First Posted: November 30, 2007    Key Record Dates
Last Update Posted: March 2, 2021
Last Verified: March 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Sequence data deposited in ClinVar upon publication. Publication of all final results in NIHMS
Keywords provided by D. Ashley Hill, M.D., Children's National Research Institute:
pleuropulmonary blastoma
cystic nephroma
Additional relevant MeSH terms:
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Wilms Tumor
Pituitary Neoplasms
Pulmonary Blastoma
Neuroectodermal Tumors, Primitive
Rhabdomyosarcoma, Embryonal
Leydig Cell Tumor
Sertoli-Leydig Cell Tumor
Neoplasms, Connective and Soft Tissue
Neoplasms by Histologic Type
Pituitary Diseases
Hypothalamic Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Endocrine System Diseases
Neoplasms, Muscle Tissue
Neoplasms, Complex and Mixed
Kidney Neoplasms
Urologic Neoplasms
Urogenital Neoplasms
Neoplasms by Site
Neoplastic Syndromes, Hereditary
Kidney Diseases
Urologic Diseases
Genetic Diseases, Inborn