Multiple endocrine neoplasia type 2 (MEN2) is a rare hereditary disorder that affects the endocrine glands. Doctors mainly associate MEN2 with tumors of the adrenal gland, the thyroid, and the parathyroid.

MEN2 endocrine tumors can cause the glands to release excessive amounts of hormones into the bloodstream, which can affect the body in various ways. Doctors also closely associate MEN2 with medullary thyroid carcinoma.

This article looks at MEN2, its symptoms, causes, risk factors, diagnosis, and more.

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MEN2 is a rare cancer syndrome, a type of disorder a person can inherit that causes a higher-than-usual risk of cancer.

MEN2 affects the endocrine glands, which produce and secrete hormones that help maintain various bodily functions.

MEN2 affects around 1 in 35,000 people. The most common characteristic of the disorder is a form of thyroid cancer called medullary thyroid carcinoma (MCT), which also commonly affects the adrenal and parathyroid glands.

MEN2 refers to:

  • Multiple: The disorder typically involves more than one tumor.
  • Endocrine: MEN2 causes tumors in the endocrine glands, most often in the thyroid, parathyroid, and adrenal glands.
  • Neoplasia: This refers to uncontrolled and abnormal cell growth or tumors.
  • Type 2: MEN syndrome has two types — MEN1 and MEN2. Doctors identify MEN2 based on the specific endocrine glands affected, the genes involved, and the signs and symptoms it causes.

The specific tumors that MEN2 causes most frequently is medullary thyroid carcinoma. Some people with MEN2 also develop an adrenal gland tumor linked to severely high blood pressure, called a pheochromocytoma.

The tumors may also cause the glands to overproduce hormones, leading to various issues such as kidney stones and hypertension.

Doctors subcategorize MEN2 into MEN2A and MEN2B. Both types involve the adrenal and thyroid glands, but MEN2A also causes a condition called primary hyperparathyroidism.

In this condition, the parathyroid glands create excessive parathyroid hormone, which can lead to several health issues.

The onset and severity of symptoms can vary between individuals. Some people may experience mild symptoms, and others may experience severe and life threatening complications.

In almost all cases of MEN2, MTC is present. Symptoms of MTC include:

  • a painless lump in the throat
  • swelling near the thyroid gland
  • difficulty swallowing and breathing
  • coughing, sometimes with blood

Other signs and symptoms of MEN2 include:

A change in the RET gene on chromosome 22 causes MEN2. The RET gene usually functions to regulate cell death and control cell division.

Changes to the gene can lead to unsuppressed cell growth, which causes the formation of tumors. A person may inherit the changed RET gene from a family member.

MEN2 is hereditary, and anyone with a family history of MEN2 may be at higher risk of developing it.

People with a diagnosis of pheochromocytoma, MTC, or a family history of MTC, may also be at higher risk of MEN2.

To diagnose MEN2, a doctor may ask for a detailed history of MEN2, MTC, and pheochromocytoma in the person’s family.

They will also perform a physical exam and various tests. These may include:

Treatment for MEN2 can vary and may depend on the severity and size of the tumors, the specific type of MEN2, the person’s overall health and age, whether the cancer has spread, and other factors.

Treatment may involve:

  • Surgery: Surgeons may perform a thyroidectomy to remove the thyroid. They may also remove lymph nodes to check whether the cancer has spread. In some cases of MEN2 in which a person has pheochromocytoma, surgeons may perform an adrenalectomy to remove one or both adrenal glands.
  • Medication: After surgery, a person may require thyroid hormone supplementation and calcium and vitamin D analogs. Before adrenalectomy, a doctor may treat a person with alpha-adrenergic blockers and beta-adrenergic blockers. This is to help minimize the effects of hormones from the adrenal glands and treat high blood pressure.
  • Chemotherapy and radiation therapy: If MTC has metastasized, doctors may suggest treatment with chemotherapy or radiation therapy.

The outlook for MEN2 is typically favorable. The major cause of mortality in MEN2 is MTC, and the stage of MTC can influence a person’s likelihood of survival.

According to 2022 research, the 10-year survival rate for each stage of MTC is as follows:

  • stage 1: 98%
  • stage 2: 93%
  • stage 3: 87%
  • stage 4: 53%

Multiple endocrine neoplasia type 2 (MEN2) is a rare genetic disorder that causes tumors to grow in the endocrine glands. It typically affects the thyroid, parathyroid, and adrenal glands.

Medullary thyroid cancer, a type of thyroid cancer, is a main characteristic of MEN2. Some people with MEN2 also develop an adrenal gland tumor called a pheochromocytoma.

People with MEN2 usually have multiple tumors that affect more than one endocrine gland. The tumors may cause the endocrine glands to overproduce hormones, leading to several health complications.

A change in a specific gene, which people can inherit, causes MEN2. Treatment for the condition involves surgery such as thyroidectomy, medication, and sometimes chemotherapy and radiation therapy. The outlook is usually positive, especially for individuals with early stage MTC.