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

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Cancer Institute (NCI)
Study ID
NCT01247597
Status
Recruiting
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Conditions

  • Cystic Nephroma
  • Nasal Chondromesenchymal Hamartoma
  • Ocular Medulloepithelioma
  • Ovarian Sertoli-Leydig Cell Tumors
  • Pleuropulmonary Blastoma

Eligibility Criteria

Sex
ALL
Age
1 Month - 99 Years
Healthy Volunteers
Accepted

Study Details

Background: \- Pleuropulmonary blastoma (PPB) is a rare fast-growing lung tumor that is associated with other, rare tumor types. Most cases of PPB appear in children younger than 6 years of age. Recently, it has been shown that this condition can be inherited (e.g., mutation of the DICER1 gene). Researchers are studying both clinical and genetic aspects of this newly described condition. They are interested in collecting further medical history and genetic information on individuals and close relatives of individuals who have PPB or other rare associated tumors. Objectives: \- To study individuals with a personal or a family history of pleuropulmonary blastoma (PPB) or other rare tumors that can be associated with PPB (e.g., cystic nephroma, nasal chondromesenchymal hamartoma, ovarian Sertoli-Leydig cell tumors, ocular medulloepithelioma). Eligibility: * Individuals who have been diagnosed with PPB and/or PPB-related tumors. * Close blood relatives (e.g., parents, siblings, grandparents) of individuals who have been diagnosed with PPB and/or PPB-related tumors. Design: * Interested participants can enroll or inquire about this study by calling 1-800-518-8474. * Participants will be asked to complete family history and medical history questionnaires. They will complete the questionnaire if they are at least 18 years of age, or another person will complete the questionnaire if the key family member is too young to do so on his or her own. * Participants will be asked to sign a medical record release form to allow researchers to examine detailed medical history information. * Participants may be asked to have a physical examination and imaging studies, provide blood and saliva samples, or provide tumor tissue from prior biopsies or cancer surgeries. * Annually, participants will update the family history and individual information questionnaires to document important changes in medical history, and will also update the medical record release form. Participants may be asked to provide additional cheek lining cells and/or blood samples, as well as tumor tissue from any new or planned biopsies or tumor surgeries. * Treatment will not be provided as part of this protocol.

Key Dates

Start date
Feb 13, 2011
Status verified
Apr 2026

Study Design

Enrollment
1,500 participants (estimated)

Arms

  • Arm: Controls
    People without pathogenic DICER1 germline variation
  • Arm: DICER1 (cases)
    People with pathogenic DICER1 germline variation or history of DICER1-associated tumors

Primary Outcome Measure

Psychosocial and Behavioral Issues [ Time Frame: On-going ]

Central Contacts

Locations (2)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892
For more information at the NIH Clinical Center contact National Cancer Institute Referral Office
888-624-1937
National Cancer Institute - Shady GroveRockvilleMaryland20850
Douglas Stewart, M.D.
[email protected]
240-276-7238

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