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Information for Participants: PPB Study

DICER1-related Pleuropulmonary Blastoma (PPB) Cancer Predisposition Syndrome: A Natural History Study

Who Can Participate in the Study?

Individuals with at least one of the benign or malignant tumors known to be associated with the DICER1 syndrome and their parents, brothers, sisters, and children.

How do I know if I am eligible?

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 or conditions 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

For questions related to eligibility, please contact Stephanie Steinbart, the study referral nurse: Phone: 1-800-518-8474; Email: StephanieSteinbart@westat.com.  

What will participants need to do for the study?

All participants will be asked to complete a family history questionnaire and an individual information questionnaire. Some participants may also be asked to contribute blood samples, and/or skin biopsies. Participants in this study are encouraged to make a clinical visit to the NIH Clinical Center, where they will be offered comprehensive examinations by NIH specialists, laboratory tests, and age-appropriate cancer screening tests (see more information below). If you have questions, please contact Stephanie Steinbart, the study referral nurse: Phone: 1-800-518-8474; Email: StephanieSteinbart@westat.com.

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

The purpose of this study is to identify the relationship between the DICER1 gene and the risk of getting cancer. This risk is determined from personal and family medical history, physical examination and laboratory findings. Treatment is not offered as part of this study.

The study team will discuss treatment and disease prevention options with you and with your physicians (at your request). They will also provide assistance in establishing care with appropriate physicians if needed. Study participants are expected to remain under the care of their regular doctors while they are participating in our study.

Some of the benefits of visiting the NIH Clinical Center include:

  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.
  10. An invaluable contribution to further our understanding of this rare syndrome and associated cancers.

If your family fits one of these descriptions, and you are interested in contributing to the research on the DICER1 syndrome, please contact Stephanie Steinbart, the study referral nurse: Phone: 1-800-518-8474; Email: StephanieSteinbart@westat.com.

 

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