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Protocol Details

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

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Cancer Institute (NCI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 0
Max Age: 100

Referral Letter Required


Population Exclusion(s)

Non-English Speaking

Special Instructions

Currently Not Provided


Thyroid Cancer;
Germline DICER1 Mutation;
MicroRNA Biogenesis

Recruitment Keyword(s)

Pleuropulmonary Blastoma;


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

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Cancer Institute


- 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.

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-Patients with histologically-confirmed PPB and other (DICER1-associated tumors) and their relatives of interest (parents, siblings, extended family). Individuals with a known or suspected DICER1 mutation and family controls (those without a known or suspected DICER1 mutation) are eligible. 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, pituitary blastoma, thyroid cancer - regardless of family history. Relatives of these patients will be eligible for the study as well (parents, siblings, extended family). As above, individuals with a known or suspected DICER1 mutation and family controls (those without a known or suspected DICER1 mutation) are eligible. Additional syndrome-associated neoplasms may be identified in the future, and they will be added to the protocol as needed.

-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

-All types and amounts of prior therapies are allowed.

Pregnant Women: Pregnant women will be included in this study as several endpoints are assessed during pregnancy; counseling, education, and other minimal risk procedures (i.e. blood draw) may be done. We will postpone full clinical evaluations at the Clinical Center for pregnant women until the subject has recovered post-partum. No imaging studies will be performed on pregnant women at the Clinical Center.

Research Eligibility Evaluation: This is entirely a function of meeting the inclusion criteria and not being excluded by the exclusion criteria. In most instances, patients with histologically-confirmed PPB and/or another neoplasm within the DICER1 syndrome and their families will be referred to the Clinical Genetics Branch (CGB) by the 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.

Adult patients and family members who are unable to provide consent: This category includes adults who lack the capacity to consent, for whom the legal representative or appropriate surrogate may give consent. This group is included because below normal intellectual function may be observed in a small proportion of families although it has not been described in association with the DICER1 syndrome. The permission of the appropriate surrogate will be obtained per the latest NIH Policy M87-4 (rev). It would be discriminatory as well as scientifically biased to exclude this group. This protocol is designated as "more than a minimal risk with generalizable knowledge with no prospect of direct benefit," and patients who are unable to provide consent may receive the same benefit. Where appropriate we will ask the subject to sign an assent form; we will honor a verbal dissent by the subject with regard to specific studies/procedures.


Individuals and families referred for evaluation in whom reported diagnoses are not verifiable.

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Hill DA, Ivanovich J, Priest JR, Gurnett CA, Dehner LP, Desruisseau D, Jarzembowski JA, Wikenheiser-Brokamp KA, Suarez BK, Whelan AJ, Williams G, Bracamontes D, Messinger Y, Goodfellow PJ. DICER1 mutations in familial pleuropulmonary blastoma. Science. 2009 Aug 21;325(5943):965. Epub 2009 Jun 25.

Manivel JC, Priest JR, Watterson J, Steiner M, Woods WG, Wick MR, Dehner LP. Pleuropulmonary blastoma. The so-called pulmonary blastoma of childhood. Cancer. 1988 Oct 15;62(8):1516-26.

Hill DA, Jarzembowski JA, Priest JR, Williams G, Schoettler P, Dehner LP. Type I pleuropulmonary blastoma: pathology and biology study of 51 cases from the international pleuropulmonary blastoma registry. Am J Surg Pathol. 2008 Feb;32(2):282-95. doi: 10.1097/PAS.0b013e3181484165.

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Principal Investigator

Referral Contact

For more information:

Douglas R. Stewart, M.D.
National Cancer Institute (NCI)
BG 9609 RM 6E450
(240) 276-7238

Douglas R. Stewart, M.D.
National Cancer Institute (NCI)
BG 9609 RM 6E450
(240) 276-7238

NCI Referral Office
National Institute of Health Clinical Center (CC), 9000 Rockville Pike, Bethesda, Maryland 20892, United States: NCI Clinical Trials Referral Office

Clinical Trials Number:


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