DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study
- 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.
- 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).
- 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.
- 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.
Ovarian Sertoli-Leydig Cell Tumors
Nasal Chondromesenchymal Hamartoma
|Official Title:||Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study|
|Study Start Date:||November 2010|
In 2009, Hill and colleagues identified heterozygous germline mutations in DICER1 in patients with familial pleuropulmonary blastoma (PPB) 1. This disorder represents the first reported cancer predisposition syndrome that is due to altered microRNA biogenesis.
- To establish a cohort of patients with PPB and/or specific neoplasms of the PPB spectrum (cystic nephroma, nasal chondromesenchymal hamartoma, ovarian Sertoli-Leydig cell tumors, ocular medulloepithelioma, others to be defined), in order to determine the frequency of DICER1 germline mutations in these patients and their family members.
- To characterize the clinical phenotype of, and study the incident and prevalent cancer rates in, these patients and their family members.
- To identify differences between patients with a mutation in DICER1 who do develop cancer and those who do not develop cancer.
- To develop evidence-based management guidelines for PPB patients and their family.
- To evaluate various parameters related to psychosocial and behavioral issues resulting from being a member of a family at increased risk of PPB.
- Create a biospecimen repository of carefully-annotated tissue samples for use in subsequent etiologically-oriented translational research projects.
- Individuals with PPB and their relatives.
- Individuals in the general population with one or more of the unique tumors reported in patients and families with PPB: cystic nephroma, ovarian Sertoli-Leydig cell tumors, ocular medulloepithelioma, and nasal chondromesenchymal hamartoma. Relatives of these patients will be eligible for study enrollment as well.
Multidisciplinary natural history study with self-administered questionnaires, clinical/epidemiologic/genetic evaluations, clinical and research laboratory tests, review of medical records, cancer surveillance, and biospecimen acquisition:
|Contact: Douglas R Stewart, M.D.||(240) firstname.lastname@example.org|
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact National Cancer Institute Referral Office (888) NCI-1937|
|Principal Investigator:||Douglas R Stewart, M.D.||National Cancer Institute (NCI)|