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)	None
Special Instructions	Currently Not Provided
Keywords	pleuropulmonary Blastoma; 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.

--Back to Top--

Eligibility

INCLUSION CRITERIA:

-North American patients with histologically-confirmed PPB and their relatives of interest [parents, siblings, mutation carriers (e.g., grandparents), other affecteds].

-North American 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 tumors, ocular medulloepithelioma, and nasal chondromesenchymal hamartoma - 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.

--Back to Top--

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.

Ventura A, Jacks T. MicroRNAs and cancer: short RNAs go a long way. Cell. 2009 Feb 20;136(4):586-91.

Siomi H, Siomi MC. On the road to reading the RNA-interference code. Nature. 2009 Jan 22;457(7228):396-404.

--Back to Top--

Contacts:

Principal Investigator	Referral Contact	For more information:
Douglas R. Stewart, M.D. National Cancer Institute (NCI) National Institutes of Health BG EPS RM 7022 6120 EXECUTIVE BLVD ROCKVILLE MD 20892 (301) 402-1042 drstewart@mail.nih.gov	Douglas R. Stewart, M.D. National Cancer Institute (NCI) National Institutes of Health BG EPS RM 7022 6120 EXECUTIVE BLVD ROCKVILLE MD 20892 (301) 402-1042 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

--Back to Top--

QUESTIONS?

Contact the Patient Recruitment and Public Liaison Office for:

• Details on how to participate in a study
• Details on how to refer a patient to a study

NIH Clinical Studies Information Request

---

Contact the Office of Communications for:

• General information about the NIH Clinical Center

www.cc.nih.gov/contact.shtml

---

Contact the Department Clinical Research Informatics, (DCRI) for:

• Technical questions about Adobe Acrobat and the PDF format
• Technical questions about this web server

webmaster@cc.nih.gov