Multiple Endocrine Neoplasia type 2B (MEN 2B) is an autosomal dominant cancer syndrome characterized by variable penetrance of medullary thyroid carcinoma (MTC). All subtypes of MEN 2B are caused by gain-of-function mutations of the RET proto-oncogene. Genotype-phenotype correlations exist that help predict the presence of other associated endocrine neoplasms as well as the timing of thyroid cancer development. Recognition of the clinical entity in individuals and families at risk of harboring a germline RET mutation is crucial for the management and prevention of associated malignancies.
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Procedures and Tests You Will Have
EXAMS AND TESTS
The health care provider will perform a physical exam and ask questions about your medical history and symptoms. The following tests may be done:
For further info please click on the test and procedure.
Surgery to remove the diseased gland is often the treatment of choice. A medicine called bromocriptine may be used instead of surgery for pituitary tumors that release the hormone prolactin.
The parathyroid glands, which control calcium production, can be removed. However, it is difficult for the body to regulate calcium levels without these glands, so a total parathyroid removal is not done first in most cases.
Medicine is available to decrease the excess stomach acid production caused by some tumors (gastrinomas), and to reduce the risk of ulcers.
Hormone replacement therapy is given when entire glands are removed or do not produce enough hormones.
SOURCE: U.S. National Library of Medicine; MedLinePlus
QUESTIONS TO ASK THE DOCTOR:
- Are you familiar with the different types of MEN?
- Are you familiar with the different types of MEN from the symptoms to diagnosis to treatment?
- What kind of medical testing will you be performing and where and in what sequence?
- Do you have MEN individuals in you practice at this time?
- Who will be the point person for the results of testing and consultations?
- MEN is a genetic mutation passed from parent to child at a rate of 50/50. When should I have my child tested for this genetic mutation?
- Are you willing to spend the time with me and possibility research and treat the symptoms I am having?
- Do you have a network of other specialists that know how to care for an individual with MEN?
- Do you have a treatment plan you follow for MEN individuals?
- Surgeons- Are you a member of American Association of Endocrine Surgeons (AAES)
- Are you familiar with AMENSupport at www.AMENSupport.org
SPECIALISTS YOU WILL NEED:
- Endocrine Surgeon or surgical oncologist ( AAES member)
- Surgical Oncologist
Click a topic from the list below for more information.