From the Guidelines
Parents of individuals with Multiple Endocrine Neoplasia (MEN) syndrome may or may not have the disease themselves, as MEN syndromes are autosomal dominant genetic disorders with a 50% chance of passing the mutation to each child, but approximately 10-25% of MEN cases occur due to new (de novo) mutations. MEN syndromes are characterized by the presence of neuroendocrine tumors, and each syndrome has a slightly different tumor spectrum with specific surveillance recommendations based on tumor penetrance, including the age and location for which specific tumor types most commonly present 1. The disease is inherited in an autosomal dominant fashion, meaning that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition.
- Key points to consider:
- If a parent has MEN syndrome, they have a 50% chance of passing the mutation to each child.
- Approximately 10-25% of MEN cases occur due to new (de novo) mutations, meaning neither parent has the disease.
- Genetic testing is recommended to determine if one parent carries the mutation or if it occurred spontaneously.
- Early detection through genetic testing allows for appropriate screening and management of potential tumors associated with MEN syndromes.
- The prevalence of MEN2 is estimated at 1:35,000 to 1:40,000, and MEN2A accounts for 91% of MEN2 patients, while MEN2B accounts for the remaining 9% 1.
- MEN1 is associated with pathogenic variants in the MEN1 tumor-suppressor gene on 11q13, which encodes the Menin protein, and comprehensive MEN1 genetic testing is indicated in certain individuals, such as those with two or more constituent MEN1 tumors or a first-degree relative with MEN1 1. Genetic testing is crucial for family planning and for monitoring other family members who might be at risk, and early detection through genetic testing allows for appropriate screening and management of potential tumors associated with MEN syndromes.
From the Research
MEN Syndrome Inheritance
- The MEN syndromes are rare inherited cancer syndromes, which express a variety of endocrine and nonendocrine tumors 2.
- These conditions are autosomal dominant, meaning a single copy of the mutated gene is enough to increase the risk of developing the condition 3.
Parental Involvement
- The fact that MEN syndromes are inherited in an autosomal dominant pattern means that a parent with the condition has a 50% chance of passing the mutated gene to each child 3.
- However, it is not explicitly stated that parents of individuals with MEN syndrome necessarily have the disease themselves, but rather they may be carriers of the mutated gene 2, 4.
Genetic Testing
- Genetic testing has become crucial in identifying those at risk in affected kindreds and directing timely surveillance and surgical therapy to those at greatest risk of potentially life-threatening neoplasia 4.
- Genetic testing can detect asymptomatic patients harbouring mutations responsible for these syndromes, allowing for early and tailored intervention with a positive impact on the course of disease 2.