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Multiple Endocrine Neoplasia Type 1

This section has been reviewed and approved by the Cancer.Net Editorial Board, 7/2012
Overview

What is multiple endocrine neoplasia type 1?

Multiple endocrine neoplasia type 1 (MEN1) is a hereditary condition associated with tumors of the endocrine (hormone producing) glands. MEN1 was originally known as Wermer syndrome. The most common tumors seen in MEN1 involve the parathyroid gland, islet cells of the pancreas, and pituitary glands. Other endocrine tumors seen in MEN1 include adrenal cortical tumors and carcinoid tumors, as well as tumors in other parts of the digestive tract.

Non-endocrine tumors are also seen in MEN1. These tumors can include:

  • facial angiofibromas (tumors of blood vessels and fibrous tissue)
  • collagenomas (flesh-colored tumors on the skin)
  • lipomas (fatty tumors)
  • leiomyomas (smooth muscle tumors).
  • meningiomas (tumors from nervous system tissue; uncommon)
  • ependymomas (tumors from nervous system tissue; uncommon)

The majority of tumors in people with MEN1 are benign (noncancerous), however, approximately one-third of islet cell tumors and mediastinal carcinoid tumors are malignant (cancerous, meaning it can spread to other parts of the body).

In addition, there is a broad spectrum of clinical syndromes associated with increased hormone production by these tumors. These include increased production of:

  • prolactin (abnormal milk production by the breast and lack of menstruation in women)
  • growth hormone (excessive growth of the jaw and other soft tissues)
  • adrenocorticotropic hormone (excessive cortisol production) by pituitary tumors
  • gastrin (causing stomach ulcers)
  • glucagon (causing diabetes mellitus and skin rash)
  • vasoactive intestinal peptide (VIPoma; causing intense watery diarrhea) by islet cell tumors of the pancreas
  • parathyroid hormone (causing high blood calcium and kidney stones) by parathyroid tumors

What causes MEN1?

MEN1 is a genetic condition. This means that the cancer risk and other features of MEN1 can be passed from generation to generation in a family. The gene associated with MEN1 is also called MEN1. A mutation (alteration) in the MEN1 gene gives a person an increased risk of developing endocrine tumors and other symptoms of MEN1. More than 90% of individuals who inherit the MEN1 mutation will develop one or more symptoms of MEN1. A small percentage without MEN1 alterations have been found to have germline mutations (alterations in the body’s egg or sperm cells that become incorporated into the DNA of every cell in the body of the offspring) in a class of proteins called cyclin-dependent kinase inhibitors (CDKIs) that regulate cell growth and division. Research is ongoing to learn more about MEN1.

How is MEN1 inherited?

Normally, every cell has two copies of each gene: one inherited from the mother and one inherited from the father. MEN1 follows an autosomal dominant inheritance pattern, in which a mutation happens in only one copy of the gene. This means that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation. Therefore, any child from a parent with a mutation has a 50% chance of inheriting that mutation. A tumor develops in the affected individual when the normal copy of the gene (inherited from the unaffected parent) is lost or mutated (damaged) in a specific cell type during normal cell division.

How common is MEN1?

It is estimated that about one in 30,000 people has MEN1. About 10% of people with MEN1 do not have a family history of the condition; they have a de novo (new) mutation in the MEN1 gene.

How is MEN1 diagnosed?

MEN1 is suspected when a person has at least two of the most common tumors listed.

If a person has a family history of MEN1, he or she is suspected of also having MEN1 if diagnosed with a parathyroid, pancreatic, or pituitary tumor. Genetic testing for mutations in the MEN1 gene is available for people suspected to have MEN1. A mutation in the MEN1 gene is found in about 80% to 90% of families diagnosed with MEN1. Approximately 65% of people with two or more tumors associated with MEN1, but no family history, will have a mutation in the MEN1 gene. 

What are the estimated cancer risks associated with MEN1?

Approximately one-third of islet cell tumors of the pancreas are cancerous. If the cancer has spread, the most common site of spread is the liver. A small percentage of mediastinal carcinoid tumors are malignant and spread to local (nearby) lymph nodes or to the liver, lung, or other locations.

What are the screening options for MEN1?

Current suggested screening for people who are known or suspected to have MEN1 includes:

Genetic Testing

  • Genetic testing is available. It should be considered for children or young adults who are members of a family diagnosed with MEN1 and an identified mutation of the MEN1 gene to determine which children/young adults should have the screening studies described below. In a family with an identified mutation of the MEN1 gene, children with a genetic test showing no mutation (expected to be 50% of children born to an individual affected with MEN1) may not need the screening tests described below. Certified genetic testing laboratories for this condition can be found at www.genetests.org.

Diagnostic Studies

  • Regular blood tests (every one to three years) for serum prolactin, insulin-like growth factor 1 (IGF-1) level, fasting glucose, insulin, and proinsulin, beginning at age 5 to 10 years.
  • A yearly ionized or albumin-corrected calcium level test, beginning at age 8
  • Regular blood tests for fasting gastrin level and fasting and meal stimulated pancreatic polypeptide (PP), fasting VIP, and glucagon, beginning at age 20.
  • Magnetic resonance imaging(MRI) scan of the brain, every three to five years, beginning between ages 5 to 10, or at any time the results of the tests for serum prolactin or insulin-like growth factor is abnormal.
  • MRI or computed tomography (CT) scan of the chest and abdomen, every two to four years, beginning at age 20 or when the serum gastrin, PP, or VIP is noted to be abnormal.

Screening guidelines may change over time as new technologies are developed and more is learned about MEN1. It is important to talk with your doctor about appropriate screening tests.

What are the treatment options for the endocrine tumors?

Most of these tumors are treated with surgery or by taking a medicine that suppresses growth or function of the tumor. Parathyroid tumors, almost always benign, should be surgically removed when the albumin-corrected serum calcium level is greater than 12 mg/dl, there is significant bone loss, or kidney damage or stones develop. The most challenging treatment issues relate to the pancreatic islet cell tumors. In addition to its role in normal digestion, the pancreas regulates the level of blood glucose through insulin production. Removal of the pancreas will cause diabetes mellitus, a condition that can lead to significant health problems. Doctors must balance the benefits of pancreatic removal in a person with MEN1 (such as the prevention of development of cancer spread) against the risks of diabetes mellitus. Carcinoid tumors are typically removed by surgery as soon as possible. Read more about the treatment for islet cell tumors and carcinoid tumors.

Pituitary tumors producing prolactin (a hormone) are most commonly managed with dopamine agonists (drugs that imitate the action of dopamine; a naturally occurring substance produced in the brain); tumors that produce growth hormones or adrenocorticoptropin hormones or non-functioning tumors are most commonly treated with surgery. Two hormonal agents, a somatostatin analogue and a growth hormone antagonist, have been successfully used to treat growth hormone excess in patients who are not cured by surgery.

Learn more about what to expect when having common tests, procedures, and scans.

Questions to ask the doctor

If you are concerned about your risk of cancer, talk with your doctor. Consider asking the following questions of your doctor: 

  • What is my risk of developing cancer?
  • What can I do to reduce my risk of cancer?
  • What are my options for cancer screening?

If you are concerned about your family history and think you or other family members may have MEN1, consider asking the following questions: 

  • Does my family history increase my risk of developing cancer?
  • Should I meet with a genetic counselor?
  • Should I consider genetic testing

Additional resources

Guide to Endocrine Tumor

Guide to Parathyroid Tumor

Guide to Islet Cell Tumor

Guide to Pituitary Tumor

Guide to Carcinoid Tumor

What to Expect When You Meet With a Genetic Counselor

Association for Multiple Endocrine Neoplasia Disorders (AMEND)
www.amend.org.uk

National Cancer Institute
www.cancer.gov

American Cancer Society
www.cancer.org

CancerCare
www.cancercare.org

To find a genetic counselor in your area, ask your doctor or visit these websites:

National Society of Genetic Counselors
www.nsgc.org

National Cancer Institute
www.cancer,gov/cancertopics/genetics/directory

© 2005-2014 American Society of Clinical Oncology (ASCO). All rights reserved worldwide.

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