Actively Recruiting

Age: 1Month - 99Years
All Genders
Healthy Volunteers
NCT01247597

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

Led by National Cancer Institute (NCI) · Updated on 2026-05-01

1500

Participants Needed

2

Research Sites

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

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

Official Title

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

Who Can Participate

Age: 1Month - 99Years
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Individuals diagnosed with histologically-confirmed pleuropulmonary blastoma (PPB) or other DICER1-related tumors
  • Individuals with known or suspected DICER1 gene disease-associated variants
  • Individuals with one or more unique tumors associated with DICER1 regardless of family history, including cystic nephroma, ovarian Sertoli-Leydig cell tumors, ocular medulloepithelioma, nasal chondromesenchymal hamartoma, Wilms tumor, embryonal rhabdomyosarcoma, pineoblastoma, pituitary blastoma, ovarian sarcoma, CNS sarcoma, or thyroid cancer
  • Family members of affected individuals without DICER1 variants, serving as controls
  • All ages and all prior therapy types allowed
  • No restrictions based on organ or marrow function
  • Ability of participant or legal guardian to understand and provide informed consent
Not Eligible

You will not qualify if you...

  • Individuals and families with diagnoses that cannot be verified by medical records or pathology material

AI-Screening

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Trial Site Locations

Total: 2 locations

1

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892

Actively Recruiting

2

National Cancer Institute - Shady Grove

Rockville, Maryland, United States, 20850

Actively Recruiting

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Research Team

N

NCI Family Study Referrals

CONTACT

D

Douglas R Stewart, M.D.

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

2

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