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Pediatric Multiple Endocrine Neoplasia - Types, Symptoms, Diagnosis, and Treatment

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Multiple endocrine neoplasia (MEN) is a genetic condition resulting in tumor cells of the endocrine organs. The article explains pediatric MEN syndrome.

Medically reviewed by

Dr. Rajdeep Haribhai Rathod

Published At December 15, 2022
Reviewed AtMay 8, 2023

Introduction:

Multiple endocrine neoplasia is an inherited genetic disorder resulting in the growth of tumor cells in the endocrine glands. The endocrine system is a complex network of glands and tissues producing hormones that are released into the bloodstream. Multiple endocrine neoplasia was first reported in 1963 by Wermer, who noticed this condition in children and adults. In multiple endocrine neoplasia, there is an abnormal growth of the cells called the hyperplasia of the gland that can either be benign (non-cancerous) or malignant (cancerous) in nature. In children, the tumors commonly arise from the pituitary, thyroid, and adrenal glands. It can also arise from the germ cell layers and the neural crest cells called neuroendocrine tumors.

What Are the Types of Multiple Endocrine Neoplasia?

Multiple endocrine neoplasias are classified into two main types:

  • Multiple Endocrine Neoplasia 1 (MEN 1): It is the most common variant, followed by familial medullary thyroid carcinoma. In addition, type 1 has an increased risk for medullary thyroid cancers, pheochromocytoma, or parathyroid cancers.

  • Multiple Endocrine Neoplasia 2 (MEN 2): The Type 2 multiple endocrine neoplasias are further subdivided into 2A, 2B, and FMTC. Type 2B is formerly called type 3, and it is relatively uncommon. The other variant is FMTC, or familial medullary thyroid carcinoma, which develops into adulthood.

What Are the Other Names for Multiple Endocrine Neoplasia?

  • Adenomatosis.

  • Familial endocrine neoplasia.

  • Multiple endocrine adenomatosis.

What Is the Inheritance Pattern of Multiple Endocrine Neoplasia?

All the subtypes of multiple endocrine neoplasia are autosomal dominant conditions. In an autosomal dominant condition, a single copy of the mutated or defective gene is sufficient to cause the defect in the individual. As it is an inherited condition, the parents affected by this condition can pass on the defect to their children. So, there is a 50 % chance for the child to acquire the disease.

What Is the Incidence of MEN Syndrome?

  • Multiple endocrine neoplasia type 1 has an incidence of 1 in 30,000 people.

  • The type 2 variant is rarely seen in 1 in 35,000 individuals.

  • Males are more commonly affected than females.

  • Although it is rare in children, it may also be seen in children less than ten years of age.

What Are the Glands Affected?

The affected body parts may vary in each type of MEN syndrome.

  • In type 1, any one of the endocrine glands may be affected, such as the pancreas, parathyroid, and pituitary.

  • In type 2 multiple endocrine neoplasia, more than two glandular involvements are seen.

  • The thyroid gland is the most commonly affected and seen in almost all cases, followed by the adrenal glands in 50 % of the cases and the parathyroid in 20 % of the conditions.

What Causes Multiple Endocrine Neoplasia?

Multiple endocrine neoplasia type 1 is caused due to any gene mutations in chromosome 11q13. This gene is responsible for producing a protein called menin, a tumor suppressor gene. The tumor suppressor gene checks the growth and regulates the abnormal growth and multiplication of the cells. MEN type 1 is generally associated with tumors of the parathyroid, pituitary, and islets of the pancreas.

Multiple endocrine neoplasia type 2 is caused due to the mutations of the RET (Rearranged during transfection) gene. The RET gene provides information for protein production and is also involved in cell signaling. Any mutations of the RET gene result in the hyperactivity of the signaling process causing abnormal cell growth and division even in the absence of cell signals for cell division. It leads to the formation of tumor cells.

What Are the Signs and Symptoms of Multiple Endocrine Neoplasia?

The clinical presentation may vary slightly according to the type and severity of the syndrome.

MEN Type1:

MEN type 1 is also called Werner syndrome. Generally, for any child diagnosed with MEN -1, there are chances for cancer development, and they have to be assessed regularly, starting from the age of five until the end of their lives. In addition, they have a chance of developing hyperparathyroidism and are hence highly susceptible to kidney stone formations. The other common signs are:

MEN Type 2:

Type 2 multiple endocrine neoplasia is also called Sipple syndrome. The symptoms are specific to the condition.

Medullary Thyroid Cancer:

  • Trouble swallowing.

  • Difficulty in breathing.

  • Change in the voice and hoarseness is noticed.

  • Presence of lumps in the throat and front of the neck.

Pheochromocytoma:

  • Pain in the chest.

  • Rapid and irregular heartbeats

  • Headaches and dizziness.

  • Increased sweating.

  • Tremors.

Hyperparathyroidism:

  • Increased blood calcium levels.

  • Persistent pain in the abdomen.

  • Weak, brittle, and painful bones.

  • Trouble swallowing and change in the voice.

  • Swelling or lump noticed in the neck.

  • Recurrent kidney stone formation.

  • Increased blood pressure.

What Are the Other Similar Conditions?

  • Von- Hippel Lindau syndrome.

  • Neurofibromatosis type 1.

  • Tuberous sclerosis complex.

How to Diagnose Multiple Endocrine Neoplasia?

Multiple endocrine neoplasia is diagnosed based on the medical history and any known family history. Hence an accurate diagnosis should be made. They are most often diagnosed if the child is suspected of having any cancers, etc. If known family history is present, the child should be monitored right from the age of five, as they have a high chance of cancer development.

Other diagnostic procedures followed are:

  • Biopsies: A fine needle aspiration or surgical biopsy is performed. A very thin needle is inserted into the abnormal growths, and the cells are examined under the microscope. This method rules out if there is any cancerous activity present in the cells.

  • Magnetic Resonance Imaging Test: The imaging test helps in assessing the abnormalities present in the body.

  • PET (Positron Emission Tomography) Scan: A special diagnostic imaging test performed to identify malignant cells. Radioactive glucose is given through an intravenous route. The malignant cells tend to take up more amount of glucose than the normal, healthy cells. It helps in identifying the presence of tumor cells in the body.

  • Radioactive Iodine Scan: This scan rules out the presence of thyroid cancer cells and their growth. The thyroid cells take up the radioactive iodine, thus traveling through the bloodstream and getting deposited wherever the thyroid cells are seen in the body. Generally, the amount of iodine taken up by the abnormal thyroid cells is more compared to the normal cells. The areas that lack iodine content are referred to as cold spots.

  • Venous Sampling of Parathyroid: Blood samples are collected from the vein near the parathyroid gland and checked for hormone levels. Elevated hormone levels in the blood are suggestive of hyperactive parathyroids.

  • Urine Test: The urine test is performed to assess the levels of catecholamines. Higher levels of catecholamines are indicative of any organ damage or dysfunction. Very high levels suggest pheochromocytoma (a small adrenal gland tumor causing irregular secretion of hormones).

How Is Multiple Endocrine Neoplasia Treated?

  • MEN Type 1: Surgery may be indicated to remove the hyperactive parathyroid glands since hyperparathyroidism is the main sign of MEN type 1. At least three parathyroid glands are removed along with the thymus.

  • MEN Type 2: In children with type 2 multiple endocrine neoplasia, surgery of the thyroid gland may be necessary before the age of five to prevent the formation of cancers or to prevent the spread of cancers to other parts of the body.

  • Targeted Therapy: This therapy identifies the cancer cells and destroys only them, and the healthy cells are unaffected. Generally, targeted therapy is preferred over chemotherapy or radiation therapy. It uses certain drugs or substances to kill cancer cells and prevent their growth.

  • Pharmacological Therapy: Medications such as tyrosine kinase inhibitors are used to treat multiple endocrine neoplasia. The tyrosine kinase inhibitors block the signals required for the growth of the tumor cells.

Conclusion:

Educating the parents about the disease condition is very important. Generally, it is an inherited condition. Hence, proper genetic testing should be made mandatory for a positive medical history. It helps to assess the health of the child, thus preventing further complications. If there is no family history of multiple endocrine neoplasia, periodic check-ups may be required to reduce the risk of cancer in children suspected of having MEN syndrome.

Frequently Asked Questions

1.

What Is a Pediatric MEN?

Pediatric MEN (multiple endocrine neoplasia) is an inherited genetic disorder affecting the child’s endocrine system that controls and creates hormones. This results in the formation of tumor cells in at least two of the endocrine glands, and it can be cancerous or noncancerous. The tumor cells are commonly formed in the thyroid, pituitary, and adrenal glands.

2.

What Are Tumors Arising from Three PS of Multiple Endocrine Neoplasia?

 
Multiple endocrine neoplasia (MEN) is an autosomal dominant (a mutated gene from one parent can cause the disorder) inherited genetic disorder. MEN type 1 occurs due to mutation in the MEN1 gene, and the tumors that arise from the three Ps refer to the pituitary, parathyroid, and pancreas. The pituitary adenomas (PA), primary hyperparathyroidism (pHPT), and neuroendocrine tumors of the pancreas (PanNET) are considered as three Ps because these are the cardinal manifestations of MEN1.

3.

What Is the Age of Onset of Multiple Endocrine Neoplasia?

The age of onset of multiple endocrine neoplasias is during the teenage years or in the twenties. MEN can affect any age group. In the case of MEN1, 50 percent of patients develop signs and symptoms by the age of 20 years, and more than 95 percent develop symptoms by 40 years.  MEN2, which involves medullary thyroid carcinoma, commonly develops between the ages of 5 and 18.  With the help of genetic testing, early diagnosis can be made, and symptoms can be treated before they become serious. Genetic testing in a known familial mutation can be done at the age of 5 years.

4.

What Is the Difference between MEN1 and MEN2?

MEN1 is an autosomal dominant inherited disorder that causes the formation of tumor cells in the pituitary, pancreas, and parathyroid glands; it occurs due to a mutation in the MEN1 gene, which is located at chromosome 11q13, whereas MEN2 is a genetic disorder that causes the formation of tumor cells in the adrenal, thyroid, and parathyroid glands, it occurs due to mutations in RET gene (ret proto-oncogene). MEN2 is further classified into MEN 2A, 2B, and familial medullary thyroid carcinoma (FMTC).

5.

What Is the Diagnostic Procedure for MEN1?

The diagnostic procedure for MEN1 includes medical and family history. Other diagnostic procedures include a biopsy to examine the presence of cancerous cells, a magnetic resonance imaging (MRI) test to examine the body, a positron emission tomography (PET) scan to read the malignant cells, a radioactive iodine scan to identify the presence of cancer cells in the thyroid gland, venous sampling of parathyroid to check its hormone levels and urine test to examine the levels of catecholamines, which are increased in case of organ damage.

6.

What Is the Age Range of the Pediatric Population?

Pediatrics involves children’s psychosocial, physical, developmental, and mental health. This ranges from infancy to young adulthood through childhood and adolescence. Infancy is between birth and two years of age, childhood is between 2 and 12, and adolescence is between 12 and 21

7.

Can Endocrine Tumors Be Treated?

Endocrine tumors are tumors that are formed in the hormone-producing glands. Endocrine tumors that are benign, non-cancerous, and do not spread to other parts of the body can be treated with the help of surgery, but malignant tumors that spread to other parts cannot be cured completely; it requires multiple modes such as surgery, chemotherapy, targeted therapy which identifies the cancer cells and kills them, radiation therapy and peptide receptor radionuclide therapy (PRRT), which identifies the cancer cells and destroys it with the help of a drug and a radioactive substance.

8.

What Medications Are Used in the Treatment of Multiple Endocrine Neoplasia?

Medications that are used in the treatment of multiple endocrine neoplasia are somatostatin analogs such as octreotide, which are a class of drugs that inhibit the peptide secretion from gastroenteropancreatic tumors, and also relieve pain, proton pump inhibitors such as Omeprazole, Esomeprazole, and Pantoprazole which inhibit gastric secretion and dopamine agonists such as Bromocriptine and Cabergoline which are used to suppress growth hormone produced pituitary tumors.

9.

What Are the Organs That Are Involved by Multiple Endocrine Neoplasia?

Multiple endocrine neoplasia involves hormone-producing glands. MEN1 involves the pituitary, parathyroid, and pancreas, and MEN2 involves the thyroid and adrenal glands. Other organs involved are the hypothalamus, pineal gland, thymus, and reproductive organs (testes in males and ovaries in females).

10.

What Is the Most Common Type of Multiple Endocrine Neoplasia?

There are three types of multiple endocrine neoplasia: types 1, 2, and 4. MEN1 and MEN2 are the most common forms, and MEN4 is rare. MEN1 includes tumor cells in the pituitary, pancreas, and parathyroid. MEN2 includes tumor cells in the thyroid called medullary thyroid carcinoma.

11.

What Is the Treatment of Multiple Endocrine Neoplasia?

Surgery is the main treatment. In the case of MEN 1, surgical removal of hyperactive parathyroid glands is done. In the case of MEN2, surgical removal of the thyroid gland is done to avoid the spread of cancer to other parts of the body. Other treatment modalities include targeted therapy, which identifies the cancer cells and destroys them, and pharmacological therapy, which includes tyrosine kinase inhibitors that stop tumor cell growth.

12.

What Are the Other Names of MEN Syndrome?

Multiple endocrine neoplasia (MEN) is a disorder affecting the hormone-producing glands. It is also called adenomatosis, familial endocrine adenomatosis, multiple endocrine neoplasms (MEN), multiple endocrine adenomatoses (MEA), and familial endocrine adenomatosis.

13.

What are the methods for diagnosing hamartoma?

The methods for diagnosing hamartoma are through 
- Laboratory analysis 
- Radiographs 
- Computed Tomography 
- Magnetic Resonance Imaging 
- Ultrasound 
- Bronchoscopy 

14.

What Are the Imaging Methods Used for Diagnosing a Lung Lesion?

The diagnostic tests used for diagnosing lung lesions are:
- Chest radiographs 
- Computed Tomography or the chest 
- Fluorodeoxyglucose-positron Emission Tomography  (FDG-PET)

15.

What Is Called a Hamartoma? What Is It Otherwise Called As?

Hamartoma Is Benign Growth appearing like a cancerous tumor. The hamartoma is a localized group of abnormally coordinated cells and tissues present in the growth sites of the body.

16.

How Does Pulmonary Hamartoma Appear in the Microscope?

Histologically, hamartoma appears as a mixture of two mesenchymal cells, predominantly cartilage, fat, and muscle cells (like smooth or fibrous muscles) and epithelial of the bronchus.

17.

Which Is the Gold Standard Test Recommend for Lung Imaging?

Although various imaging methods are used, Computed Tomography remains the gold standard test for lung imaging and confirmation.

18.

What Is a Lung Hamartoma and What Are Its Types?

Lung Hamartoma is a Benign Growth of the lungs characterized by abnormal coordination of fat, muscle, and cartilage cells. 
 
The types of lung hamartoma are:
- Chondromatous hamartoma.
- Leiomyomatous hamartoma.
- Mixed hamartoma.

19.

What Is the Size, Shape, and Site of Presentation of a Lung Hamartoma?

Pulmonary hamartomas are small, round, slow-growing tumors that are of the size of 4 to 10 centimeters. Pulmonary hamartoma is usually present in the periphery of lung parenchyma and rarely in the central chest wall.

20.

What Are the Clinical Features of Lung Hamartoma?

Pulmonary hamartoma clinically appears as a well-defined coin-like mass in the periphery of the lungs. The lesion can be Slightly tender when palpated with visible deformity.
Source Article IclonSourcesSource Article Arrow
Dr. Rajdeep Haribhai Rathod
Dr. Rajdeep Haribhai Rathod

Pediatrics

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genetic inheritancemultiple endocrine neoplasia
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