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

Purpose

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.

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


Study Type:	Observational
Official Title:	DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study

Resource links provided by NLM:

Genetics Home Reference related topics: DICER1 syndrome lung cancer ovarian cancer

MedlinePlus related topics: Cancer

Genetic and Rare Diseases Information Center resources: Pleuropulmonary Blastoma Sertoli-leydig Cell Tumors DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome Neuroepithelioma Testicular Cancer Ovarian Cancer

U.S. FDA Resources

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

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 ] [ Designated as safety issue: No ]
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 ] [ Designated as safety issue: No ]
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 ] [ Designated as safety issue: No ]
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 ] [ Designated as safety issue: No ]
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 ] [ Designated as safety issue: No ]
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 ] [ Designated as safety issue: No ]


Estimated Enrollment:	1500
Study Start Date:	November 2010

Show Detailed Description

Eligibility


Ages Eligible for Study:	up to 100 Years (Child, Adult, Senior)
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	Yes

Criteria

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 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.

EXCLUSION CRITERIA:

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 ClinicalTrials.gov identifier: NCT01247597

Contacts


Contact: Douglas R Stewart, M.D.	(240) 276-7238	drstewart@mail.nih.gov

Locations


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)

Investigators


Principal Investigator:	Douglas R Stewart, M.D.	National Cancer Institute (NCI)

More Information

Additional Information:

NIH Clinical Center Detailed Web Page This link exits the ClinicalTrials.gov site

Publications:

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. doi: 10.1126/science.1174334. 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. Review.

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. Review.


Responsible Party:	National Cancer Institute (NCI)
ClinicalTrials.gov Identifier:	NCT01247597 History of Changes
Other Study ID Numbers:	110034 11-C-0034
Study First Received:	November 23, 2010
Last Updated:	September 28, 2016
Health Authority:	United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):


Thyroid Cancer Germline DICER1 Mutation MicroRNA Biogenesis Pleuropulmonary Blastoma PPB

Additional relevant MeSH terms:


Disease Susceptibility Neuroectodermal Tumors, Primitive Pulmonary Blastoma Leydig Cell Tumor Hamartoma Sertoli-Leydig Cell Tumor Disease Attributes Pathologic Processes Neoplasms, Neuroepithelial Neuroectodermal Tumors Neoplasms, Germ Cell and Embryonal Neoplasms by Histologic Type Neoplasms Neoplasms, Glandular and Epithelial Neoplasms, Nerve Tissue	Neoplasms, Complex and Mixed Lung Neoplasms Respiratory Tract Neoplasms Thoracic Neoplasms Neoplasms by Site Sex Cord-Gonadal Stromal Tumors Neoplasms, Gonadal Tissue Testicular Neoplasms Endocrine Gland Neoplasms Genital Neoplasms, Male Urogenital Neoplasms Genital Diseases, Male Endocrine System Diseases Testicular Diseases Gonadal Disorders

ClinicalTrials.gov processed this record on September 30, 2016