What is multiple endocrine neoplasia type 1?
Multiple endocrine neoplasia type 1 (MEN1, also called Wermer syndrome) is a genetic disease caused by mutations – or genetic changes – in the MEN1 gene. People suffering from MEN1 have a greatly increased risk of developing tumors of the parathyroid along with primary hyperparathyroidism (PHPT) and tumors of the islet cells of the pancreas and the anterior pituitary (anterior pituitary neuroendocrine tumors, PitNET). All in all, the MEN1 tumor spectrum includes more than 20 hormone-producing non-hormone-producing tumors, different combinations of which may occur.
How is multiple endocrine neoplasia type 1 diagnosed?
Genetic Diagnostics
Genetic testing is advised for the following people:
The diagnosis of “MEN1” is confirmed by the detection of a mutation – or genetic change – in the MEN1 gene.
Clinical Diagnostic Criteria
The following are typical MEN1 tumors:
What is the risk of cancer?
Tumors of the parathyroids and PHPT
Well-differentiated, hormone-producing tumors of the gastrointestinal tract and pancreas
Tumors of the adenohypophysis (anterior lobe of the hypophysis) = PitNET
Carcinoids
Parathyroid Tumors
Tumors of the skin
What causes multiple endocrine neoplasia type 1?
MEN1 is caused by a genetic change in the MEN1 gene. This gene encodes for the menin protein, which controls the amplification of genetic material during normal metabolism. Now if the MEN1 gene is altered, the protein menin can no longer function correctly, resulting in the development of a tumor.
MEN1 occurs in approx. one in 20.000-40.000 people and is usually passed on by parents to their children. In these cases, it is inherited as an autosomal dominant disease. The remaining cases (around 10%) are due to a spontaneous or new mutation, called a de novo mutation.
Is there a treatment?
Treatment recommendations for MEN1 depend on the existing disease:
Tumors of the parathyroids and PHPT
Pituitary Tumors
Well-differentiated, endocrine tumors of the gastrointestinal tract and pancreas
Carcinoids
Parathyroid Tumors
Surveillance Recommendations for the Early Detection of Cancer
Surveillance Recommendations
Different surveillance examinations are conducted with regard to the various diseases that can occur as part of MEN1:
Insulinoma
Neuroendocrine Tumors of Adenohypophysis (PitNET)
Parathyroid Adenoma and PHPT
Neuroendocrine tumors of the pancreas
Adrenocortical Adenomas
Thymic, bronchial, and gastric carcinoids
Gastrinoma
Self-Care and Support
What should I pay special attention to?
You should consult a doctor as soon as drowsiness, unconsciousness, a feeling of weakness, fatigue, or even ravenous hunger pangs and increased thirst occur. These may be signs of hyperglycemia or hypoglycemia or other hormonal disruptions. In addition, you should see a doctor if you have complaints of the gastrointestinal tract, such as diarrhea, nausea, vomiting, and abdominal pain. If you develop new anomalies or complaints, such as bone or back pain, headaches, or visual disturbances, they should likewise be evaluated as soon as possible.