Natural history of DICER1-related cancer predisposition syndrome
DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study
This study is trying to learn more about people with rare tumors linked to DICER1 mutations to see how common these genetic changes are and understand the types of tumors they cause.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1500 (estimated) |
| Ages | 1 Month to 99 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 2 sites (Bethesda, Maryland and 1 other locations) |
| Trial ID | NCT01247597 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on individuals with pleuropulmonary blastoma (PPB) and other rare tumors associated with DICER1 mutations. It aims to collect clinical and genetic information through questionnaires, evaluations, and biospecimen acquisition. The study will establish a cohort to determine the frequency of DICER1 germline variants and characterize the associated tumors, providing insights into this cancer predisposition syndrome.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with PPB or other DICER1-related tumors, as well as their close blood relatives.
Not a fit: Patients without a diagnosis of PPB or related tumors, or those without a family history of DICER1 mutations, may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of DICER1-related tumors and improve early detection and management strategies for affected individuals.
How similar studies have performed: Other studies have shown success in understanding genetic predispositions to cancer, making this approach promising but still relatively novel in the context of DICER1-related tumors.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: All participants who meet the eligibility criteria outlined below will be eligible for inclusion in this study regardless of their race, gender, ethnicity, or age. * Affected individual is defined as: * an individual with histologically-confirmed PPB and/or other DICER1-related tumors * an individual with a known or suspected DICER1 disease-associated variant * an individual from the general population with one or more of the unique tumors of the types associated with DICER1 including (but not exclusively), PPB, cystic nephroma, ovarian Sertoli-Leydig cell and other sex cord-stromal tumors, ocular medulloepithelioma, nasal chondromesenchymal hamartoma, Wilms tumor, embryonal rhabdomyosarcoma, pineoblastoma, pituitary blastoma, ovarian sarcoma, CNS sarcoma and/or thyroid cancer - regardless of their family history. Additional DICER1-related neoplasms may be identified in the future, and they will be added to the protocol as needed. * Unaffected individual is defined as: * a family member (such as parents, siblings, children, or extended family) of an affected participant without a known or suspected DICER1 disease-associated variant or condition and they will be controls. Other inclusion criteria include: * All types and amounts of prior therapies are allowed. * There is no age restriction. * There is no restriction related to organ and marrow function. * Ability of the individual or their legal guardian or appropriate surrogate to understand, and their willingness to provide informed consent. Neonates of affected individuals will be included in the Field Cohort and be eligible for genetic counseling, education, and testing, if indicated and consented by a parent/legal guardian/LAR. This is entirely a function of meeting the inclusion criteria and not being excluded by the exclusion criteria. In some instances, patients with histologically-confirmed PPB and/or another neoplasm within the DICER1-related tumor risk and their families will be referred to the Clinical Genetics Branch (CGB) by the International Pleuropulmonary Blastoma (PPB) / DICER1 Registry (IPPBR), provided that the family has previously or currently indicated a desire to be notified of such research opportunities. In non IPPBR cases, the diagnosis will be confirmed by reviewing relevant medical records and relevant surgical pathology material. EXCLUSION CRITERIA: Individuals and families referred for evaluation in whom reported diagnoses are not verifiable.
Where this trial is running
Bethesda, Maryland and 1 other locations
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
- National Cancer Institute - Shady Grove — Rockville, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Douglas R Stewart, M.D. — National Cancer Institute (NCI)
- Study coordinator: NCI Family Study Referrals
- Email: ncifamilystudyreferrals@mail.nih.gov
- Phone: (800) 518-8474
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.