NCT01247597

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

Recruiting now Last updated 13 April 2026

What this trial tests

trial in Pleuropulmonary Blastoma in 1,500 participants. Currently enrolling.

Timeline

13 February 2011

Quick facts

Lead sponsor	National Cancer Institute (NCI)
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	1,500
Start date	13 February 2011
Sites	2 locations across United States

Conditions studied

• Pleuropulmonary Blastoma — all drugs for Pleuropulmonary Blastoma →
• Cystic Nephroma — all drugs for Cystic Nephroma →
• Ovarian Sertoli-Leydig Cell Tumors — all drugs for Ovarian Sertoli-Leydig Cell Tumors →
• Ocular Medulloepithelioma — all drugs for Ocular Medulloepithelioma →

Sponsor

National Cancer Institute (NCI)

Who can join

Adults 1 Month to 99, any sex, with Pleuropulmonary Blastoma or Cystic Nephroma. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

8 peer-reviewed publications reference this trial (live from Europe PMC):

1. The Role of Non-coding RNAs in Oncology.
   Slack FJ, Chinnaiyan AM. · · 2019 · cited 1219× · PMID 31730848 · DOI 10.1016/j.cell.2019.10.017
2. Neoplasm Risk Among Individuals With a Pathogenic Germline Variant in DICER1.
   Stewart DR, Best AF, Williams GM, Harney LA, et al · · 2019 · cited 105× · PMID 30715996 · DOI 10.1200/jco.2018.78.4678
3. MicroRNAs in cancer therapeutics: "from the bench to the bedside".
   Monroig-Bosque Pdel C, Rivera CA, Calin GA, Calin GA. · · 2015 · cited 34× · PMID 26372796 · DOI 10.1517/14712598.2015.1074999
4. DICER1-Related Tumor Predisposition: Identification of At-risk Individuals and Recommended Surveillance Strategies.
   Schultz KAP, Nelson AT, Mallinger PHR, Harris AK, et al · · 2024 · cited 15× · PMID 39400264 · DOI 10.1158/1078-0432.ccr-24-1532
5. Gynecologic and reproductive health in patients with pathogenic germline variants in DICER1.
   Merideth MA, Harney LA, Vyas N, Bachi A, et al · · 2020 · cited 12× · PMID 31952842 · DOI 10.1016/j.ygyno.2019.12.037
6. Prevalence of lung cysts in adolescents and adults with a germline <i>DICER1</i> pathogenic/likely pathogenic variant: a report from the National Institutes of Health and International Pleuropulmonary Blastoma/<i>DICER1</i> Registry.
   Nelson AT, Vasta LM, Watson D, Kim J, et al · · 2024 · cited 11× · PMID 38508719 · DOI 10.1136/thorax-2023-221024
7. Landscape of germline cancer predisposition mutations testing and management in pediatrics: Implications for research and clinical care.
   Shahani SA, Marcotte EL. · · 2022 · cited 11× · PMID 36225340 · DOI 10.3389/fped.2022.1011873
8. Nasal chondromesenchymal hamartomas in a cohort with pathogenic germline variation in <i>DICER1</i>.
   Vasta LM, Nichols A, Harney LA, Best AF, et al · · 2020 · cited 9× · PMID 34164613 · DOI 10.4193/rhinol/20.007