Multiple endocrine neoplasia syndromes (MEN) refer to various diseases that impact the endocrine system, a network of endocrine glands responsible for synthesizing hormones. Hormones are chemicals that control the activity of cells and tissues via the circulatory system. Tumors (neoplasia) can form in any organ or tissue; however, in the case of multiple endocrine neoplasia, the condition is most commonly associated with endocrine glands. These tumors can be benign or malignant and are considered genetic disorders. The illness might be fatal if the tumors develop into a malignancy.
Type 1 and Type 2 are the most common multiple endocrine neoplasia syndromes. Each type has a unique set of genes, hormones, and symptoms.
Multiple Endocrine Neoplasia Type 1 Syndrome
The parathyroid gland, the pituitary gland, or the pancreatic islet cells are the most common sites of tumor development in people with MEN 1 syndrome. Symptoms of the disease may be brought on by the excess hormones that these tumors produce. The MEN 1 syndrome is also known as Wermer syndrome. Generally, the prognosis (chances of recovery) is rather good.
In patients with MEN 1 syndrome, hyperparathyroidism is the most prevalent complication. The following are some of the symptoms that may indicate that you have hyperparathyroidism (high levels of parathyroid hormone):
- State of extreme fatigue and weakness
- Painful sensation in the bones
- Dealing with kidney stone issues
Additional medical diseases and their typical symptoms that are linked to MEN1 syndrome include:
- Adenoma of the pituitary gland (lack of menstrual cycle during and after adolescence, breast milk production for no apparent reason, headaches)
- Tumors of the neuroendocrine (islet) cells of the pancreas (abdominal pain, low blood sugar, extreme weakness, diarrhea, vomiting)
- Adrenal, bronchial, thymic, fibrous tissue, and adipose (fat) cell malignancies
In children with primary hyperparathyroidism, MEN1-associated malignancies, or a family history of MEN 1 syndrome or hypercalcemia, genetic testing to look for a mutation in the MEN1 gene may be recommended.
Genetic testing should not be performed without first providing parents with genetic counseling (conversation with an expert about the possibility of inherited disorders). The probability of MEN 1 syndrome and how it can affect the kid and their family is also part of the genetic counseling discussion.
Cancer screenings for children with MEN 1 syndrome begin at age five and continue throughout the patient’s life.
Multiple Endocrine Neoplasia Type 2 Syndrome
RET gene mutations are the root cause of multiple endocrine neoplasia type 2 syndrome. There is a 95% risk that those with MEN syndrome type 2 will get medullary thyroid carcinoma. There are three subtypes of multiple endocrine neoplasia type 2 syndrome, namely MEN2A, MEN2B, and FMTC.
Pheochromocytoma, parathyroid gland disease, and medullary thyroid cancer are all possible outcomes of MEN2A syndrome. This type of MEN syndrome is sometimes referred to by another name: Sipple syndrome. When the patient or a close relative (parents, siblings, or offspring) has two or more of the following characteristics, it’s possible to diagnose MEN2A:
- Medullary thyroid cancer, often accompanied by throat/neck lumps, hoarse voice, and issues with breathing and swallowing.
- Pheochromocytoma (adrenal gland tumor), with common symptoms such as feeling shaky and dizzy, nervousness, sweating, abdominal or chest pain, erratic heartbeat, headaches, high blood pressure, etc.
- Parathyroid gland disease (a benign parathyroid gland tumor/gland’s growth), often with symptoms such as painful sensation in the bones and the back/sides/abdomen, issues with swallowing and speaking, hypercalcemia, neck lump, etc.
The outlook, in general, is rather good.
Many health issues can result from MEN2B syndrome. Patients with the MEN2B condition often have an extremely slim figure with long, slender limbs. Sometimes, benign tumors in the mucous membranes can cause the lips to swell and become lumpy. As a result of MEN2B syndrome, patients may experience the following:
- Aggressive medullary thyroid cancer
- Parathyroid hyperplasia
- Mucosal and other cancers affecting the nerve cells
- Pheochromocytoma
- Adenoma
Because medullary thyroid carcinoma is so aggressive, the outlook for MEN2B syndrome is not as optimistic as it is for MEN1 and MEN2A syndromes.
Multiple cases of medullary thyroid cancer in the same family without pheochromocytoma and/or hyperparathyroidism are considered to be FMTC or familial medullary thyroid cancer. Estimating the severity and course of the disease is feasible to some degree based on the exact RET mutation. It’s possible to confirm a MEN2 diagnosis and identify at-risk family members by genetic blood sample analysis.
The Diagnosis of Multiple Endocrine Neoplasia Syndromes
The symptoms and patient’s family history are utilized to determine which tests to perform in diagnosing and staging malignancies associated with MEN syndrome types.
Cancer can be diagnosed with the help of diagnostic tests. Staging tests are performed after a cancer diagnosis to see if the disease has spread to other sections of the body or the immediate vicinity.
The procedure and test range may incude the following:
- Studies of blood chemistry and hormones
- Health history and physical exam
- Genetic testing
- Urine tests
- Ultrasound, MRI, CT scan, PET scan
- Thyroid scan
- Sestamibi scan
- MIBG scan
- Venous sampling
- Somatostatin receptor scintigraphy
- Pentagastrin stimulation test
- Biopsy
Cancer can potentially metastasize (spread to other areas) through the lymphatic system, the blood, or tissue.
The lymphatic system: When cancer cells invade the lymphatic system, they can spread to other body parts far from the original tumor.
Blood: When cancer cells enter the bloodstream, they can travel to other body parts. The malignant cells spread throughout the body via the circulatory system.
Tissue: The tumor grows and invades neighboring tissues, quickly spreading the disease.
The Treatment of the MEN Syndromes
MEN syndromes in children can be treated in many ways. There are two types of treatments: the already used, standard therapy, and experimental treatments studied in clinical trials. Cancer patients can benefit from participating in clinical trials of new and improved treatments, as well as studies to evaluate the effectiveness of existing therapies. A new medicine can replace the current gold standard if clinical trials prove its efficacy.
Participating in a clinical study should be taken into consideration due to the rarity of this kind of pediatric cancer. To participate in certain clinical trials, patients must wait to begin treatment.
Treatment plans for kids with MEN syndromes should be developed by a group of clinicians with experience in dealing with pediatric cancer. The treatment will be determined by the specific type of MEN syndrome that the child has.
Remember, though, that most cases of multiple endocrine neoplasia have no specific cure at this time. Doctors typically address alterations in each of the endocrine glands separately. When possible, a tumor gets removed surgically.
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The study of endocrinology is rapidly growing, and our experts keep on top of all the most recent research and breakthroughs in the field. If your kid has been diagnosed with an endocrine or metabolic disorder, the Pediatric Endocrine and Metabolic Center of Florida is a great place to get treatment. We offer cutting-edge medical technology and a staff of highly trained medical professionals ready to assist you. Don’t wait to get in touch with us if you’re interested in our assistance.