A Registry Study Called the International Pleuropulmonary Blastoma Registry for PPB, DICER1, and Associated Conditions

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"This Registry Study is for individuals that have a condition which may be associated with a gene called DICER1."
Age: -1 years or older
Healthy Volunteers: No
Keywords: pleuropulmonary blastoma, sertoli-leydig cell tumor, DICER1 Syndrome, Cystic Nephroma, Wilms Tumor, Pineoblastoma, Renal Sarcoma
Type: Registry Study
8 Participants
You have been asked to participate in this Registry study. You or a family member have a condition which may be associated with a gene called DICER1 or have been found to have a change in the DICER1 gene.

Many individuals with a change in the DICER1 gene are healthy. Some children and adults may develop tumors or other conditions. This study seeks to understand more about the function of the DICER1 gene. We want to know the clinical course of conditions associated with it. This includes PPB, cystic nephroma of the kidney, Wilms tumor, sarcoma, ovarian tumors, thyroid nodules and thyroid cancer, pineoblastoma, pituitary blastoma and others.
This study requires

If you choose to take part in this study, we will review the following information: - your medical records - family history - imaging studies - tumor tissue

The Registry will use this information to learn what may benefit future individuals with these conditions.

Additionally, tissue, urine, and blood samples may be used. This will help the study team understand more about these conditions and to develop new treatments. If a new or recurrent tumor or other condition is found during the time you are a part of this study, we will collect information on that as well. If you choose, the Registry may share information to guide your treatment or followup. These are not a part of Registry participation. It is available regardless of whether you choose to take part in the Registry.

Some individuals with these conditions will undergo surgery. If surgery is performed as a part of your health care, we ask for your permission to obtain tissue at the time of surgery. These deidentified tissues, which may be kept indefinitely, may be used to make “cell lines.” They may also be used in research in the possible development of new treatments.

Individuals who undergo blood draws and/or lumbar punctures may also be asked to provide an extra blood or cerebral spinal fluid sample. This will be done at specific time points such as at diagnosis of a new condition, during treatment or following completion of treatment.

Similarly, if an IV will be placed for a clinical purpose, such as a CT scan or MRI or surgery, we ask for your permission to obtain a blood sample at that time. This is usually done through the same needle used to place the IV. At these times you may also be asked to provide a urine specimen.

If previous blood or tissue samples are still available, we ask for your permission to retrieve these for additional studies.

GENETIC TESTING DICER1 testing is a clinical test. If applicable, consent for DICER1 testing will be reviewed with you separately. The Registry recommends participants receive genetic counseling both before and after the testing. It is possible that during your participation in the Registry, additional genes related to these tumors may be identified. We may learn expected or unexpected information from study of these samples. If these results are relevant to your future health or the health of your relatives, you will be notified. You may be advised to have additional testing to confirm the findings.

Who can participate

Inclusion criteria:

  1. Pathology Diagnosis: Individuals with newly-diagnosed PPB Types I, II or III. Diagnosis is made by the local pathologist. All cases must be submitted for central pathology review. Only centrally-reviewed cases confirmed as PPB will be analyzed prospectively. Cases in which the initial diagnosis is "suggestive" or "supportive" of PPB, but not diagnostic, and in which later resection specimens, including resections following chemotherapy, confirm a PPB diagnosis will be included. Patients diagnosed by fine needle aspiration biopsy will be included only if a later resection specimen, including resection(s) following chemotherapy, is diagnostic of PPB.
  2. Prior Therapy: PPB Type I: All patients are eligible and will be followed in the study.
  3. PPB Types II or III: Newly-diagnosed Types II and III PPB patients will be included in the Treatment and Biology Registry.
  4. Prior corticosteroid therapy is allowed.
  5. Types II and III PPB patients with PRIOR Type I PPB diagnosis
  6. Individuals with DICER1-related conditions including PPB, Sertoli-Leydig cell tumor, gynandroblastoma, cystic nephroma, renal sarcoma and others.
  7. Individuals with the DICER1 gene mutation regardless of whether they have a known DICER1-associated condition
  8. Informed consent by patient/ or parent/guardian (also, where appropriate: assent and HIPAA consent)
Benefits and risks of participating

We cannot promise any benefits to you as a result of taking part in this research study.


The study doctor will discuss the risks associated with taking part in this research study.
You will not be paid to take part in this research study.
Study duration and period
We would like to continue to follow you and to learn about your health every year.
Recruitment period
From Feb. 12, 2018
UC Davis Comprehensive Cancer Center
4501 X Street
Sacramento, CA 95817
Research Topic
  • Pleuropulmonary Blastoma
  • Sertoli-Leydig Cell Tumor
  • DICER1 Syndrome
  • Cystic Nephroma
  • Wilms Tumor
  • Pineoblastoma
  • Renal Sarcoma
  • Nodular Hyperplasia of Thyroid
  • Nasal Chondromesenchymal Hamartoma
  • Ciliary Body Medulloepithelioma
  • Neuroblastoma
  • Pituitary Cancer
  • Embryonal Rhabdomyosarcoma

Have any questions or want to learn more? Leave your contact details below and the research team will reach out to you.


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