Ret tyrosine kinase and multiple endocrine neoplasia type 2 (MEN2)
Multiple Endocrine Neoplasi1
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Multiple Endocrine Neoplasia (MEN) II Endocrine glands Definition: Multiple Endocrine Neoplasia II (MEN II) is a hereditary disorder in which a type of thyroid cancer accompanied by recurring cancer of the adrenal glands. One type of this disease (MEN IIa) is also associated with overgrowth (hyperplasia) of the parathyroid gland. Alternative Names: Sipple's syndrome Causes, incidence, and risk factors: The cause of MEN II is genetic -- a mutation in a gene called RET. Multiple tumors may appear in the same person, but not necessarily at the same time. The adrenal tumor is a pheochromocytoma and the thyroid tumor is a medullary carcinoma of the thyroid . The disorder may occur at any age, and affects men and women equally. The main risk factor is a family history of MEN II. Symptoms: Severe headache Heart palpitations Rapid heart rate Sweating Chest pain Abdominal pain
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Transcript of Multiple Endocrine Neoplasi1
Multiple Endocrine Neoplasia (MEN) II
Endocrine glands
Definition:Multiple Endocrine Neoplasia II (MEN II) is a hereditary disorder in which a type of thyroid cancer accompanied by recurring cancer of the adrenal glands.
One type of this disease (MEN IIa) is also associated with overgrowth (hyperplasia) of the parathyroid gland.Alternative Names:Sipple's syndrome Causes, incidence, and risk factors:The cause of MEN II is genetic -- a mutation in a gene called RET. Multiple tumors may appear in the same person, but not necessarily at the same time. The adrenal tumor is a pheochromocytoma and the thyroid tumor is a medullary carcinoma of the thyroid.
The disorder may occur at any age, and affects men and women equally. The main risk factor is a family history of MEN II. Symptoms:
Severe headache
Heart palpitations
Rapid heart rate
Sweating
Chest pain
Abdominal pain
Nervousness
Irritability
Loss of weight
Diarrhea
Cough
Cough with blood
Fatigue
Back pain
Increased urine output
Increased thirst
Loss of appetite
Nausea
Muscular weakness
Depression
personality changes
The symptoms may vary, but are consistent with those of pheochromocytoma, medullary carcinoma of the thyroid, and sometimes hyperparathyroidism.Signs and tests:Diagnosis depends on identification of mutation of the RET gene. This can be done with a blood test.
A physical examination may reveal enlarged cervical lymph nodes. An examination of the thyroid may reveal a single or multiple thyroid nodules. The patient may have high blood pressure (sustained or episodic), rapid heart rate and fever.
In MEN IIb, mucosal neuromas (benign tumors of the mucosa) may be present, as well as puffy lips and a prominent jaw.
Diagnostic tests are also used to evaluate the function of each endocrine gland. These tests help confirm the diagnosis:
Adrenal biopsy showing pheochromocytoma MIBG scintiscan showing tumor
MRI of abdomen showing adrenal mass
Abdominal CT scan showing mass
Elevated urine metanephrine
Elevated urine catecholamines
Thyroid biopsy showing medullary carcinoma cells
Ultrasound of the thyroid revealing nodule
Thyroid scan showing cold nodule
Elevated calcitonin
Parathyroid biopsy showing tumor or hyperplasia
Radioimmune assay of parathyroid hormone showing increased level
Increased serum calcium
Decreased serum phosphorus
Possibly increased serum alkaline phosphatase
Imaging of the kidneys or ureters showing calcification or obstruction
ECG possibly showing abnormalitiesTreatment:Surgery is needed to remove both the medullary carcinoma of the thyroid and the pheochromocytoma. Medullary carcinoma of the thyroid must be treated with total removal of the thyroid gland and removal of surrounding lymph nodes. Hormone replacement therapy is given after surgery.
Family members should be screened for the RET gene mutation.Expectations (prognosis):Pheochromocytoma is usually benign (not cancer), but the accompanying medullary carcinoma of the thyroid that characterizes this condition is a very aggressive and potentially fatal cancer. Nonetheless, early diagnosis and surgery can often lead to cure.Complications:A complication is the metastasis of cancerous cells.Calling your health care provider:Call your health care provide if you notice symptoms of MEN II.Prevention:Screening of close relatives of a person with MEN II may lead to early detection.
Review Date: 11/9/2004Reviewed By: Marcia S. Brose, M.D., Ph.D., Assistant Professor, Hematology/Oncology, The University of Pennsylvania Cancer Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
