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. |
| ClinicalTrials.gov Identifier: NCT00565903 |
|
Recruitment Status :
Active, not recruiting
First Posted : November 30, 2007
Last Update Posted : April 1, 2019
|
Sponsor:
D. Ashley Hill, M.D.
Information provided by (Responsible Party):
D. Ashley Hill, M.D., Children's Research Institute
- Study Details
- Tabular View
- No Results Posted
- Disclaimer
- How to Read a Study Record
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 |
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.
| 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, 2020 |
Resource links provided by the National Library of Medicine
Primary Outcome Measures :
- Identify the genetic factors which contribute to the development or progression of pleuropulmonary blastoma [ Time Frame: 10 years ]
Secondary Outcome Measures :
- 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
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, Learn About Clinical Studies.
| 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.
Criteria
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 ClinicalTrials.gov identifier (NCT number): NCT00565903
Locations
| 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.
Investigators
| Study Chair: | D. Ashley Hill, MD | Children's Research Institute | |
| Study Director: | Kris Ann Schultz, MD | Children's Hospital and Clinics of Minnesota |
Additional Information:
Publications of Results:
| 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 |
| First Posted: | November 30, 2007 Key Record Dates |
| Last Update Posted: | April 1, 2019 |
| Last Verified: | March 2019 |
| 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 Research Institute:
|
pleuropulmonary blastoma PPB cystic nephroma DICER1 miRNA |
Additional relevant MeSH terms:
|
Rhabdomyosarcoma Wilms Tumor Pituitary Neoplasms Pinealoma Pulmonary Blastoma Neuroectodermal Tumors, Primitive Rhabdomyosarcoma, Embryonal Leydig Cell Tumor Sertoli-Leydig Cell Tumor Neoplasms Sarcoma 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 Myosarcoma 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 |