Clinical and Genetic Studies in Familial Non-medullary Thyroid Cancer

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.