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How Can I Participate and What Can I Expect?

Individuals with at least one of the benign or malignant tumors known to be associated with the DICER1 syndrome (pleuropulmonary blastoma, cystic nephroma, nasal chondromesenchymal hamartoma, ovarian Sertoli-Leydig cell tumor, ocular medulloepithelioma, and familial multinodular goiter) and their parents, brothers, sisters, and children, are all invited to participate in this study. All participants will be asked to complete a family history questionnaire and an individual information questionnaire. Blood samples and/or skin biopsies may be requested for those in the field cohort.

We encourage participants in this study to visit the NIH Clinical Center, where we will offer comprehensive examinations by specialists, laboratory tests, and age-appropriate cancer screening tests. We will also collect information, blood samples, and/or skin biopsies,that we will need for the research portion of this study.

The purpose of this study is to identify the relationship between genes, physical characteristics and laboratory findings with the risk of getting cancer. Treatment is not being offered as part of this study. We will discuss treatment and disease prevention options with you and with your physicians (at your request). We will also provide assistance in establishing care with appropriate physicians if you are having difficulty identifying the proper health care providers in your community. We expect our study participants to remain under the care of their regular doctors while they are participating in our study. If emergency medical problems develop while you are visiting the NIH Clinical Center as part of this study, we will of course provide the care needed to deal with that emergency.

For a family to be considered eligible to participate in this study, someone in the family must have been diagnosed, currently or previously, as having at least one of the tumors from the DICER1 syndrome spectrum:

1. Pleuropulmonary blastoma
2. Cystic nephroma
3. Nasal chondromesenchymal hamartoma
4. Ovarian Sertoli-Leydig cell tumor
5. Ocular medulloepithelioma
6. Familial multinodular goiter

If my family participates at the NIH Clinical Center, what will we receive?

1. A detailed evaluation of your personal medical history along with your family history of cancer.
2. A complete physical examination, routine and research blood tests, skin biopsy, imaging tests, and age- and diagnosis-appropriate cancer screening.
3. Specialty consultations that are age- and diagnosis-appropriate, including physical examination, imaging (e.g. CT of the lung, ultrasound, dentistry, gastroenterology, genetic counseling, gynecology, ophthalmology, otolaryngology, and others as needed).
4. Information regarding genetic test results, when available, for those who choose to learn their mutation status.
5. Advice about the management of existing clinical problems, and occasionally, information related to medical issues that may not have been previously recognized.
6. Education and advice regarding possible ways to reduce cancer risk.
7. Results of clinical tests and cancer screening evaluations, along with a summary report for yourself and your primary care physician.
8. Referral back to primary physician or other consultants at home for medical interventions based on the results of tests performed at the NIH.
9. Reimbursement for costs related to traveling to the NIH Clinical Center.

If your family fits one of these descriptions, and you are interested in contributing to the research on the DICER1 Syndrome, please call 1-800-518-8474 to speak with the referral nurse, Stephanie Steinbart, or email her at StephanieSteinbart@westat.com. She can answer your questions and provide further information regarding this study.