Recruiting

Observational Study

Sponsor:

National Cancer Institute (NCI)

Code:

NCT01247597

Conditions

Pleuropulmonary Blastoma

Cystic Nephroma

Ovarian Sertoli-Leydig Cell Tumors

Ocular Medulloepithelioma

Nasal Chondromesenchymal Hamartoma

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

Study Details

Brief 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

Study ID

NCT01247597

Start date

Feb 13, 2011

Status verified date

Aug 31, 2026

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

  • 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.

Study Design

Enrollment

1500 participants

Anticipated

Interventions and Outcome Measures

Arms

Controls

People without pathogenic DICER1 germline variation

DICER1 (cases)

People with pathogenic DICER1 germline variation or history of DICER1-associated tumors

Primary outcome measure

  • Psychosocial and Behavioral Issues [ Time Frame: On-going ]
  • Management Guidelines & Risk-reduction Strategies [ Time Frame: On-going ]
  • Genetic & Environmental Interactions [ Time Frame: On-going ]
  • DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome [ Time Frame: On-going ]
  • Clinical Phenotype [ Time Frame: On-going ]
  • Biospecimen Repository [ Time Frame: On-going ]

Central Contacts and Locations

Central contacts

NCI Family Study Referrals

(800) 518-8474ncifamilystudyreferrals@mail.nih.gov

Douglas R Stewart, M.D.

(240) 276-7238drstewart@mail.nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact National Cancer Institute Referral Office

888-624-1937

National Cancer Institute - Shady Grove

Recruiting

Rockville, Maryland, United States, 20850

Contacts

Douglas Stewart, M.D.

240-276-7238drstewart@mail.nih.gov

More Information

Sponsor

National Cancer Institute (NCI)

Last update posted

Sep 3, 2026

Last verified

Aug 31, 2026

Keywords

  • Thyroid Cancer
  • Germline DICER1 Mutation
  • MicroRNA Biogenesis
  • Natural History
  • Pleuropulmonary Blastoma
  • PPB

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Cancer Institute (NCI) on 2026-09-03.