Trial Information

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.