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Multiple Endocrine Neoplasi1

Multiple Endocrine Neoplasia Type II is a hereditary disorder caused by a mutation in the RET gene. It is characterized by medullary thyroid cancer occurring alongside recurrent adrenal gland cancers. Type IIa is also associated with overgrowth of the parathyroid gland. Symptoms vary but relate to the involved endocrine cancers. Diagnosis involves genetic testing and screening of the thyroid, adrenal glands, and parathyroid. Treatment requires surgery to remove the thyroid and adrenal tumors followed by hormone replacement. Early detection through family screening can improve outcomes.

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37 views

Multiple Endocrine Neoplasi1

Multiple Endocrine Neoplasia Type II is a hereditary disorder caused by a mutation in the RET gene. It is characterized by medullary thyroid cancer occurring alongside recurrent adrenal gland cancers. Type IIa is also associated with overgrowth of the parathyroid gland. Symptoms vary but relate to the involved endocrine cancers. Diagnosis involves genetic testing and screening of the thyroid, adrenal glands, and parathyroid. Treatment requires surgery to remove the thyroid and adrenal tumors followed by hormone replacement. Early detection through family screening can improve outcomes.

Uploaded by

fynnero
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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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

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 abnormalities


Treatment:
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: 11/9/2004
Reviewed 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.

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