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Multiple Endocrine Neoplasia Type 1 is a hereditary tumour/cancer syndrome.
Multiple Endocrine Neoplasia Type 1 (MEN1) is a hereditary condition associated with an increased risk of tumours of the endocrine (hormoneproducing) glands.
These glands are located in different parts of the body and control the production of hormones that direct many body processes, including growth, digestion and sexual function.
MEN1 is caused by a fault (i.e., mutation) in the
MEN1 gene. The gene provides instructions for producing a protein called menin which is known to play a role in keeping cells from growing and dividing too fast.
It is estimated that about
one in 30,000 people have MEN1.
Hereditary tumours and cancers develop because of the presence of a faulty gene. Some genes function to protect us from tumour/cancer growth. When they are not working well, it causes an increased risk for tumours/cancers to grow. We refer to genes that are not working well as faulty genes.
Individuals who carry a faulty tumour/cancer gene(s) have a higher chance of developing certain tumours/cancers over their lifetime compared to the general population. The types of tumours/cancer that they may be at increased risk of will depend on the gene(s) involved.
If you have a faulty tumour/cancergene, you may be at increased risk of developing certain tumours/cancers. As genes are shared among family, other family members may have inherited the faulty gene and may be at increased risk of tumours/cancer too.
Genetic testing is offered to individuals where a hereditary cause of their personal and/or family history of tumours/cancer is suspected.
Genes contain the instructions that our body reads to carry out different functions. Genetic testing involves analysing your genes to understand if there are faults (i.e., mutations) that may increase the risk of tumours/cancer.
There are 3 types of results you may receive:
MEN1 is typically characterised by tumours in the following locations of the body:
1. Parathyroid glandsAbout 95% of people with MEN1 develop tumours in the parathyroid glands by age 50.These four pea-sized glands produce the
parathyroid hormone, which helps to maintain the right balance of calcium and phosphate in your body. Over time, MEN1 can affect all four glands.MEN1-related tumours cause the parathyroid glands to become overactive, producing too much parathyroid hormone. This condition, called
hyperparathyroidism, is the most common complication associated with MEN1.
The parathyroid glands are located near the thyroid gland in the neck
Excess parathyroid hormone can cause calcium levels in your blood to rise too high. Complications may include:
2. Pancreas and digestive tractAbout 40% of people with MEN1 develop tumours in the pancreas, duodenum (small intestine), or other parts of the digestive tract.Many different types of tumours may develop at the same time. Many of these tumours produce hormones while others do not. Some tumours may be cancerous.In people with MEN1, the two most common tumours of the
digestive tract are:
Other rare pancreatic tumours include:
3. Pituitary glandNearly one in three people with MEN1 develop tumours in the front part of the pituitary gland called the anterior lobe. Like other pituitary tumours, these growths are often small in size and are almost always noncancerous.
The pituitary gland sits at the base of the brain
In people with MEN1, the two most common
pituitary tumours are:
Prolactinomas. These tumours are the most common, and produce the hormone
prolactin. Normally, this hormone signals women’s breasts to produce milk during pregnancy and breastfeeding. Women with a prolactinoma may notice milk discharge from their breast(s) (galactorrhea) when they are not pregnant or breastfeeding. In both men and women, high prolactin levels can lead to infertility and bone loss.
Growth hormone (GH) tumours. These tumours are the second most common, and produce excess GH which causes bones and other vital organs to grow larger in size. This condition is called acromegaly. Health problems caused by excessive GH include hypertension, diabetes, heart disease, stroke, arthritis, carpal tunnel syndrome and tumours of the colon or rectum.Pituitary tumours that grow large in size may prevent the pituitary gland from making enough hormones, leading to a condition called hypopituitarism.The tumours may also press against nearby brain tissues such as the eye nerve, causing vision problems and headaches.Hypopituitarism can usually be treated with oral hormone replacement pills.
Other tumoursMEN1 can also cause tumours to develop in other parts of the body. Examples include:
Note: The conditions associated with MEN1 and their risk estimates may change as more information is available.
While individuals with MEN1 have an increased risk of the tumours listed above, it does not mean that they will definitely develop tumours associated with MEN1.
MEN1 follows a dominant inheritance pattern. This means that having one faulty copy of the MEN1 gene can result in an increased risk of tumours. It affects both males and females.
Everyone has 2 copies of each gene in their body’s cells:
You may be clinically diagnosed with MEN1 if you meet one of these three criteria:
You should consider genetic testing if you or your family members meet one or more of the following criteria:
Personalised managementYour genetic test result may confirm whether your personal and/or family history is due to a hereditary condition like MEN1, and clarify what your lifetime tumour/cancer risks may be.As MEN1 may present similarly to other conditions, undergoing genetic testing can help you confirm your diagnosis of MEN1, which can help to direct your medical management.Understanding if you have MEN1 provides you with options for managing your increased risk of tumours/cancer. For example, screening options (blood tests/imaging) may be recommended to you which can help to detect tumours/cancer at its earliest, most treatable and manageable stage.In some cases, you may choose to undergo surgery that can help to reduce your risk of developing tumours/cancer. For individuals planning a family, reproductive options may also be available.
Familial implicationsYour genetic test result can also help you understand if other family members are at risk of MEN1. They can subsequently consider their own testing (predictive testing) to clarify their carrier status to determine tumour and cancer risks.Family members who have inherited the same faulty MEN1 gene may be at increased risk of tumours and cancer and can benefit from management options such as screening (to detect tumours and cancer at an early and manageable stage) or surgery (to reduce their risk of cancer).Family members who did not inherit the faulty MEN1 gene can avoid unnecessary screening and worry. Their children will also not be at risk.
Screening helps to detect (and in some cases treat) tumours at an early and manageable stage.
* Computed tomography (CT) scans can be considered if MRI is unavailable
Your managing doctor(s) will discuss screening recommendations with you in greater detail. The onset and frequency of screening would be personalised according to your needs, personal and family history. Screening guidelines may change as more information is known.
In some cases, risk-reducing surgery may be offered to help reduce the risk of tumours developing.
For example, in thymic NETs, concurrent surgery to remove the thymus can be considered along with surgery to remove the parathyroid.
However, do note that this is not standard management and this option will be discussed in detail with you by your managing doctor(s).
Lifestyle adjustments such as avoiding smoking can help manage this risk.