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

Description

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....

Conditions

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

Study Overview

Study Details

Study overview

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....

DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study

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

Condition
Pleuropulmonary Blastoma
Intervention / Treatment

-

Contacts and Locations

Bethesda

National Institutes of Health Clinical Center, Bethesda, Maryland, United States, 20892

Rockville

National Cancer Institute - Shady Grove, Rockville, Maryland, United States, 20850

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Affected individual is defined as:
  • * an individual with histologically-confirmed PPB and/or other DICER1-related tumors
  • * an individual with a known or suspected DICER1 disease-associated variant
  • * an individual from the general population with one or more of the unique tumors of the types associated with DICER1 including (but not exclusively), PPB, cystic nephroma, ovarian Sertoli-Leydig cell and other sex cord-stromal tumors, ocular medulloepithelioma, nasal chondromesenchymal hamartoma, Wilms tumor, embryonal rhabdomyosarcoma, pineoblastoma, pituitary blastoma, ovarian sarcoma, CNS sarcoma and/or thyroid cancer - regardless of their family history. Additional DICER1-related neoplasms may be identified in the future, and they will be added to the protocol as needed.
  • * Unaffected individual is defined as:
  • * a family member (such as parents, siblings, children, or extended family) of an affected participant without a known or suspected DICER1 disease-associated variant or condition and they will be controls.
  • * 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 individual or their legal guardian or appropriate surrogate to understand, and their willingness to provide informed consent.

Ages Eligible for Study

1 Month to 99 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

National Cancer Institute (NCI),

Douglas R Stewart, M.D., PRINCIPAL_INVESTIGATOR, National Cancer Institute (NCI)

Study Record Dates

N/A