Multiple endocrine neoplasia type 1 (MEN1), also known as Wermer’s syndrome, is a type of multiple endocrine neoplasia syndrome (MENS) that causes tumours to develop in two or more endocrine glandsglands responsible for the production and secretion of hormones. Endocrine glands are responsible for the production and secretion of hormones, and help to control many vital bodily functions.
Familial cancera disease where abnormal cells split without control and spread to other nearby body tissue and/or organs syndromes, also known as hereditary cancer syndromes, are rare conditions that cause an increased riskthe possibility that something bad will happen of cancer as the result of inherited genetic mutations in certain cancer-related genes. They can affect both adults and children, however they generally develop in people at a younger age than normal. While familial cancer syndromes are not classified as cancer, they are equally as severe and can be life-threatening as they are associated with the development of various tumours throughout the body. Having a familial cancer syndrome does not guarantee the development of cancer, however the risk of developing cancer is higher than those who do not have a familial cancer syndrome.
Neuroendocrine cancers are a complex group of tumours that develop in the neuroendocrine system, which is responsible for regulating important bodily functions such as heart rate, bloodthe red bodily fluid that transports oxygen and other nutrients around the body pressure and metabolism. They most commonly develop in the gastro-intestinal tract, pancreasa long, flat organ that sits between the stomach and the spine that plays a key role in digestion and blood sugar regulation, and the lungs; however, they can develop anywhere in the body. These tumours develop from neuroendocrine cellsthe basic structural and functional unit of all living things, which are responsible for receiving signals from the nervous system and producing hormones and peptides (small proteins) in response.
There are four primary types of MENS, which vary based on tumoura tissue mass that forms from groups of unhealthy cells location and genetic mutations involved: MEN1, MEN2 (type 2A and type 2B (also known as MEN3)), MEN4 and MEN5. This page will focus on MEN1.
MEN1 generally affects the sexes equally, and is generally diagnosed around the age of 40. However, tumours associated with MEN1 can develop earlier, and anyone can develop this disease.
MEN1 Related Tumours
MEN1 is most commonly associated with the development of parathyroid tumours, however it has also been linked to other types of tumours. Some examples include:
- Pituitary adenomas, most commonly a prolactinoma.
- Pancreatic NETs, including:
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- Gastrinomas (most common).
In rare cases, they may also involve the following tumours:
Treatment
When cancers are detected, they are staged and graded based on size, metastasiswhen the cancer has spread to other parts of the body, also known as mets, and how the cancer cells look under the microscope. Stagingthe process of determining how big the cancer is, where it started and if it has spread to other areas and grading helps your doctors determine the best treatment for you. However, each patient with MEN1 will present with a unique disease behaviour, with varying tumour locations and symptoms. As such, there is no one treatment method that will work for everyone, and there is no standard staging system for this disease. Instead of staging and grading, your doctor will recommend a treatment plan based on the following factors:
- Type of tumours present.
- Whether the tumours are malignantcancerous, may grow and spread to other areas of the body (cancerous) or benignnot cancerous, can grow but will not spread to other body parts (non-cancerous).
- Tumour location.
- Whether or not malignant tumours have metastasised.
- Your age.
- General health.
- Your treatment preferences.
Your doctor may also recommend genetic testinga procedure that analyses DNA to identify changes in genes, chromosomes and proteins, which can be used to analyse tumour DNA to help determine which treatment has the greatest chance of success, which analyses your tumour DNA and can help determine which treatment has the greatest chance of success. They will then discuss the most appropriate treatment option for you.
Treatment options for tumours associated with MEN1 may include:
- Surgerytreatment involving removal of cancerous tissue and/or tumours and a margin of healthy tissue around it to reduce recurrence to remove as much of the tumour(s) as possible – this will vary based on tumour location.
- Chemotherapya cancer treatment that uses drugs to kill or slow the growth of cancer cells, while minimising damage to healthy cells.
- Peptide receptor radionuclide therapy (PRRT)a targeted cancer treatment that uses radioactive substances (radionuclides) to deliver radiation directly to tumour cells.
- Somatostatin analogues (SSAs)medication used to inhibit excessive hormone production.
- Targeted therapymedication that targets specific molecular features of cancer cells.
- Hormone therapymedication that alters the levels of certain hormones in the body, such as oestrogen and progesterone.
- Watch and waitthe close monitoring of a cancer without giving treatment until symptoms appear or worsen.
- Radiation therapya treatment that uses controlled doses of radiation to damage or kill cancer cells (rare).
- Clinical trialsresearch studies performed to test new treatments, tests or procedures and evaluate their effectiveness on various diseases.
- Palliative carea variety of practices and exercises used to provide pain relief and improve quality of life without curing the disease.
Cancer Screening
Once a diagnosisthe process of identifying a disease based on signs and symptoms, patient history and medical test results of MEN1 has been confirmed, implementing a targeted screeningtesting for cancer or conditions that can lead to cancer before symptoms appear, also known as cancer screening plan becomes essential due to the increased risk of developing certain cancers. The content of this plan will vary from person to person based on the genetic mutation involved, your family’s history of cancer and the types of cancers that may be present. It will also outline the routine tests you should have and how regularly you should have them. Some recommendations for MEN1 may include:
- Annual physical examinationan examination of your current symptoms, affected area(s) and overall medical history.
- Annual blood teststesting done to measure the levels of certain substances in the blood starting at age 10-15.
- MRI, CT or endoscopic ultrasoundan ultrasound taken during an endoscopy of the pancreas and duodenum (first portion of the small bowelportion of the digestive system that digests food (small bowel) and absorbs salts and water (large bowel); also called intestines) every two years starting at age 20.
- MRI of the thymus gland every two years starting at age 20.
- Baseline MRI of the pituitary gland at age 10, which may be combined with adrenal and/or chest imagingtests that create detailed images of areas inside the body. After 20 years old, this should be repeated every four years.
- MRI or CT scan of the adrenal glands every two years starting at age 20.
- MRI or CT scan of the chest every two years starting at age 30.
Screening options for MEN1 may evolve as new technologies are developed and our understanding of the condition grows. It is essential to discuss your individual circumstances with your healthcare team to determine the most appropriate screening plan for you.
Risk factors
MEN1 is caused by a genetic mutation in the MEN1 tumour suppressor gene located on chromosome 11. In rare cases, MEN1 can develop sporadically (randomly), but in most cases it is inherited.
MEN1 is an autosomal dominant disease, which means you have a 50% chance of developing the condition if one of your parents carries the genetic mutation.
Symptoms
The symptoms of MEN1 often vary by the type(s) of tumours present. General symptoms of MEN1 may include:
- Hyperparathyroidism.
- Hormonea chemical substance produced by glands in the endocrine system that regulates various functions in the body abnormalities.
- General weakness.
- Fatiguea state of extreme tiredness or exhaustion, can be physical or mental.
- Nauseato feel sick or likely to vomit and/or vomiting.
- Unexplained weight loss/loss of appetite.
- Diarrhoeafrequent discharge of watery or loose stools from the body.
- Persistent abdominal, side, and/or back pain.
- Polyuriafrequent urination.
- Constipationa condition where a person has difficulty passing faeces/stools.
- Difficulties concentrating.
- Bone pain.
- Headaches.
Symptoms related to specific tumours can be found on our knowledgebase.
Not everyone with the symptoms above will have cancer, but see your general practitioner (GP) if you are concerned.
Diagnosis
If your doctor suspects you have tumours associated with MEN1, they may order some of the following tests to confirm the diagnosis and refer you to a specialist for treatment. The tests required for diagnosis will often vary based on the symptoms present, and where the tumour(s) are suspected to be located.
- Physical examination.
- Genetic testing.
- Endocrine studiesstudies that involve blood, urine and/or imaging tests to analyse hormone levels.
- Imaging tests, potentially including:
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- MRI (magnetic resonance imaging)a type of medical imaging that uses radiowaves, a strong magnet and computer technology to create detailed images of the body.
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- CT (computed tomography) scana type of medical imaging that uses x-rays and computer technology to create detailed images of the body.
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- PET (positron emission tomography) scana type of medical imaging that uses radioactive tracers to create detailed images of the body.
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- Ultrasounda type of medical imaging that uses soundwaves to create detailed images of the body .
- Exploratory procedures, such as an endoscopya procedure that involves inserting a long, flexible tube with a light and small camera (endoscope) into the body to view internal organs.
- Biopsyremoval of a section of tissue to analyse for cancer cells.