Longitudinal Assessment and Natural History Study of Children and Adults With MEN2A or MEN2B With or Without Medullary Thyroid Carcinoma
National Cancer Institute (NCI)
Summary
Background: \- Medullary thyroid cancer (MTC) is a rare cancer of the thyroid gland. In children and adults, it is often part of a condition called Multiple Endocrine Neoplasia 2 (MEN2). MEN2 is usually caused by a genetic mutation, and it can cause a number of problems in addition to MTC. These problems include adrenal gland tumors, hormone changes, and problems with the bones and other organs. Not much is known about how MTC develops over time, especially in people with MEN2. Researchers want to study MTC in children and adults and see how it affects their growth and development. Objectives: \- To study how medullary thyroid cancer affects children and adults over time. Eligibility: \- Children and adults who have medullary thyroid cancer. Design: * Participants will be screened with a brief physical exam and medical history. Blood and tissue samples will be collected to see whether participants have the MEN2 genetic mutation. * Treatment will not be provided as part of this study. However, participants will be receiving standard care for MTC. They may be eligible for other clinical trials at the National Institutes of Health. * Participants will have regular study visits every 6 to 12 months to evaluate their MTC and any treatment. Blood tests, imaging studies, and other tests may be performed as needed to monitor the disease. * Participants and their parents/guardians will also complete questionnaires about their health and emotions during the study.
Description
Background: * Medullary Thyroid Carcinoma (MTC) is a calcitonin producing tumor arising from the parafollicular C cells of thyroid. In children and adults, MTC is usually seen in association with Multiple Endocrine Neoplasia (MEN) 2A and 2B, which are rare cancer syndromes resulting from germline mutations of Rearranged during Transfection (RET) proto-oncogene. MTC develops in virtually all patients with MEN 2, and is the leading cause of death in these patients. Patients with MEN 2 may have other characteristic manifestations such as pheochromocytoma and hyperparathyroidism in MEN 2A and phe…
Eligibility
- Age range
- 0+ years
- Sex
- All
- Healthy volunteers
- Yes
* INCLUSION CRITERIA FOR PATIENTS: * Patients must have histologically or cytologically confirmed MTC, confirmed by the Laboratory of Pathology, NCI OR Confirmation of MEN2A or MEN2B diagnosis, regardless of presence of MTC. * Performance Status: Ability to travel to the NIH and to undergo evaluations to be performed on this protocol. * Informed Consent: Ability of patient or their legal guardian (if the patient is \<18 years old) to understand and willing to sign a written informed consent document. * Prior and current therapy: For the purpose of this study subjects who have not previously re…
Location
- National Institutes of Health Clinical CenterBethesda, Maryland