Patient case: 40-year-old female with thyroid cancer; genetic feature: BRAF

Clinical trial: Clinical and Genetic Studies in Familial Non-medullary Thyroid Cancer

Summary: Background:
  - Researchers are studying types of thyroid cancer that seem to cluster in families. Non-medullary thyroid cancer accounts for the vast majority of all types of thyroid cancer, but little is known about possible genes that may cause the cancer. More research is needed to develop the best ways to screen for familial non-medullary thyroid cancer (FNMTC) so that it can be diagnosed and treated at an early stage.
  Objectives:
  -  To evaluate the natural history of FNMTC.
  -  To determine the best screening strategy for FNMTC.
  -  To identify genes that may indicate susceptibility to FNMTC.
  Eligibility:
  - Individuals at least 7 years of age who have two first-degree relatives (e.g., parents, children, siblings) who have or have had non-medullary thyroid cancer or a documented diagnosis of non-medullary thyroid cancer and one living relative with documented non-medullary thyroid cancer.
  Design:
  -  Participants will be evaluated by family history pedigree, physical examination, imaging (including possible neck ultrasound and radioactive iodine scans), and laboratory testing.
  -  Participants who agree to have blood or other biological samples collected will be asked to enroll in an additional study to provide the appropriate samples and tissues.
  -  After the initial study evaluation, participants who are not found to have a malignant thyroid tumor will be re-screened every year with non-invasive imaging studies. Participants who are found to have a malignant thyroid tumor will be informed of possible treatment options.

Detailed description: Background:
  -  Thyroid cancer is one of the fastest growing cancer diagnoses in the United States.
  -  Non-medullary thyroid cancer accounts for 95% of all thyroid cancer cases.
  -  Up to 8% of all non-medullary thyroid cancers are hereditary.
  -  Familial non-medullary thyroid cancer (FNMTC) is more aggressive than sporadic disease.
  -  No susceptibility gene for FNMTC has been identified.
  -  The best approach for screening at risk family members for FNMTC is unknown.
  -  This protocol is designed to determine the natural history and best screening strategy for FNMTC, and to identify susceptibility gene(s) for FNMTC.
  Objectives:
  -  To evaluate the natural history of FNMTC.
  -  To determine the best screening strategy for FNMTC.
  -  To identify susceptibility gene(s) for FNMTC.
  Eligibility:
  - An individual with 2 first-degree relatives who have or have had non-medullary thyroid cancer or a documented diagnosis of non-medullary thyroid cancer and one living relative with documented non-medullary thyroid cancer (Note: as this is a familial study, subjects do not need to present with the disease)
  Or
  Any member of an affected family.
  -  Age greater than 7 years
  -  Adults must be able to understand and sign the informed consent document
  -  Adults must be able to complete the family history questionnaire
  Design:
  -  Prospective observational study.
  -  Demographic, clinical and pathologic data will be collected from the medical record and patient interview for each patient participant and family members. Data will be securely stored in a computerized database. When possible, pathology slides and blocks will be obtained from all cases in the family for verification of diagnoses.
  -  Patients will be evaluated by family history pedigree, physical examination, imaging, and laboratory testing as indicated.
  -  Participants who agree to have biospecimens collected will be co-enrolled on the endocrine tissue procurement protocol 09-C-0242. These would include peripheral blood or buccal cell samples and thyroid tissue if the participants have surgery.
  -  After their initial on-study evaluation, patients who are not found to have a malignant thyroid tumor will be re-screened every year with non-invasive imaging studies.
  -  Treatment of patients with a thyroid neoplasm will be performed based on established clinical guidelines.
  -  Projected accrual will be 20 patients per year for a total of 15 years. Thus, we anticipate accruing 300 patients on this protocol.

Eligibility: -  INCLUSION CRITERIA:
  1. An individual with 2 first-degree relatives who have or have had non-medullary thyroid cancer or a documented diagnosis of non-medullary thyroid cancer and one living relative with documented non-medullary thyroid cancer. (Note: as this is a familial study, subjects do not need to present with the disease.)
  OR
  Any member of an affected family. (Note: for this study, an affected family is defined as a family having 2 or more 1st degree relatives with a documented diagnosis of FNMTC.)
  2. Age greater than 7 years.
  Note: at least one parent must provide consent for pediatric patients; patients will be re-consented once they reach the age of majority.
  3. Adults must be able to understand and sign the informed consent document.
  4. Adults must be able to complete the family history questionnaire.

Relevance to patient case: not relevant