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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

Summary

Number

11-C-0034

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

No

Population Exclusion(s)

Non-English Speaking

Special Instructions

Currently Not Provided

Keywords

Thyroid Cancer;
Germline DICER1 Mutation;
MicroRNA Biogenesis

Recruitment Keyword(s)

Pleuropulmonary Blastoma;
PPB

Condition(s)

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

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Cancer Institute

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.

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Eligibility

INCLUSION CRITERIA:

-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 recors 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.

EXCLUSION CRITERIA:

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

-Inability to provide informed consent.


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Citations:

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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Contacts:

Principal Investigator

Referral Contact

For more information:

Douglas R. Stewart, M.D.
National Cancer Institute (NCI)
BG 9609 RM 6E450
9609 MEDICAL CENTER DR
ROCKVILLE MD 20850
(240) 276-7238
drstewart@mail.nih.gov

Douglas R. Stewart, M.D.
National Cancer Institute (NCI)
BG 9609 RM 6E450
9609 MEDICAL CENTER DR
ROCKVILLE MD 20850
(240) 276-7238
drstewart@mail.nih.gov

NCI Referral Office
National Institute of Health Clinical Center (CC), 9000 Rockville Pike, Bethesda, Maryland 20892, United States: NCI Clinical Trials Referral Office
1-888-NCI-1937

Clinical Trials Number:

NCT01247597

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