Natural history of DICER1-related cancer predisposition syndrome

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

* 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 it's running

• 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Registry for rare lung tumors and DICER1-related conditions

  This study is collecting information about rare lung tumors in children, like pleuropulmonary blastoma, to help doctors understand how these conditions develop and how to treat them better.

  Recruiting Children's Hospitals and Clinics of Minnesota · Minneapolis, Minnesota · NCT03382158

• International registry for very rare childhood tumors

  This project will collect detailed medical information to see how clinical and biological features affect outcomes in children and adolescents with very rare tumors.

  Recruiting Azienda Ospedaliera di Padova · Padova, Italy · NCT07072143

• Comparing surgery and chemotherapy for treating pleuropulmonary blastoma in children

  This study tests whether combining surgery with chemotherapy is better than just surgery alone for children with pleuropulmonary blastoma, and also looks at adding a new cancer drug to see if it helps kids with more advanced types of the disease.

  Recruiting at 84 sites Phase 3 Children's Oncology Group · Birmingham, Alabama and 86 other locations · NCT06647953

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.