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

This study is currently recruiting participants. (see Contacts and Locations)
Verified February 1, 2017 by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) )
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ) Identifier:
First received: November 23, 2010
Last updated: April 21, 2017
Last verified: February 1, 2017


- 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.


- 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).


  • 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.


  • 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.

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

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Other
Official Title: DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ):

Primary Outcome Measures:
  • To characterize the clinical phenotype of, and study the incident and prevalent cancer rates in, these patients and their family members, for all cancers combined, and for each type of cancer, and to identify and confirm the specific types of ca... [ Time Frame: Ongoing ]
  • To establish a cohort of patients with PPB and/or specific neoplasms of the PPB spectrum (cystic nephroma, nasal chondromesenchymal hamartoma, ovarian Sertoli-Leydig cell and other sex cord-stromal tumors, ocular medulloepithelioma, Wilms tumor,... [ Time Frame: Ongoing ]
  • To identify differences between patients with a germline mutation in DICER1 (or another gene(s) from this pathway) who do develop cancer and those who do not develop cancer. These differences may include genotype/phenotype/cancer susceptibility ... [ Time Frame: Ongoing ]
  • To develop evidence-based management guidelines for cancer prevention and risk-reduction strategies for PPB patients and their family members prior to and after obtaining answers to the questions/objectives above. [ Time Frame: Ongoing ]
  • To evaluate various parameters related to psychosocial and behavioral issues resulting from being a member of a family at increased risk of PPB. [ Time Frame: Ongoing ]
  • To create a biospecimen repository of carefully-annotated tissue samples for use in subsequent etiologically-oriented translational research projects. These samples comprise an invaluable resource for current and future studies related to the et... [ Time Frame: Ongoing ]

Estimated Enrollment: 1500
Study Start Date: November 12, 2010
  Show Detailed Description


Ages Eligible for Study:   up to 100 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
  • Patients with histologically-confirmed PPB and their relatives of interest [parents, siblings, mutation carriers (e.g., grandparents), other affecteds]. Given the rarity of this disorder, we are open to patients from all over the world, at the discretion of the PI (e.g. availability of medical records in English, ability of patient/family to communicate in English) but will follow NIH travel regulations.
  • Patients from the general population with one or more of the unique tumors of the types seen in patients/families with PPB - cystic nephroma, ovarian Sertoli-Leydig cell and other sex cord-stromal tumors, ocular medulloepithelioma, nasal chondromesenchymal hamartoma, Wilms tumor, embryonal rhabdomyosarcoma, pineoblastoma - regardless of family history. Relatives of these patients will be eligible for study as well (parents, siblings, mutation carriers, other affecteds). Additional syndrome-associated neoplasms may be identified in the future, and they will be added to the protocol as needed.
  • 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 proband or their guardians to understand, and their willingness to sign, a written informed consent document.


  • Individuals and families referred for evaluation in whom reported diagnoses are not verifiable.
  • Inability to provide informed consent.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01247597

Contact: Douglas R Stewart, M.D. (240) 276-7238

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact National Cancer Institute Referral Office    (888) NCI-1937      
Sponsors and Collaborators
National Cancer Institute (NCI)
Principal Investigator: Douglas R Stewart, M.D. National Cancer Institute (NCI)
  More Information

Additional Information:
Responsible Party: National Cancer Institute (NCI) Identifier: NCT01247597     History of Changes
Other Study ID Numbers: 110034
Study First Received: November 23, 2010
Last Updated: April 21, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Cancer Institute (NCI) ):
Thyroid Cancer
Germline DICER1 Mutation
MicroRNA Biogenesis
Pleuropulmonary Blastoma

Additional relevant MeSH terms:
Disease Susceptibility
Pulmonary Blastoma
Neuroectodermal Tumors, Primitive
Sertoli-Leydig Cell Tumor
Leydig Cell Tumor
Disease Attributes
Pathologic Processes
Neoplasms, Complex and Mixed
Neoplasms by Histologic Type
Lung Neoplasms
Respiratory Tract Neoplasms
Thoracic Neoplasms
Neoplasms by Site
Neoplasms, Neuroepithelial
Neuroectodermal Tumors
Neoplasms, Germ Cell and Embryonal
Neoplasms, Glandular and Epithelial
Neoplasms, Nerve Tissue
Sex Cord-Gonadal Stromal Tumors
Neoplasms, Gonadal Tissue
Ovarian Neoplasms
Endocrine Gland Neoplasms
Testicular Neoplasms
Genital Neoplasms, Male
Urogenital Neoplasms
Genital Diseases, Male
Ovarian Diseases
Adnexal Diseases processed this record on May 25, 2017