MedTrace Logo

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

NCT01247597 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 1500

Last updated 2026-05-01

No results posted yet for this study

Summary

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.

Conditions

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

Sponsors & Collaborators

  • National Cancer Institute (NCI)

    lead NIH

Principal Investigators

  • Douglas R Stewart, M.D. · National Cancer Institute (NCI)

Eligibility

Min Age
1 Month
Max Age
99 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2011-02-13

Countries

  • United States

Study Locations

More Related Trials

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01247597 on ClinicalTrials.gov