Familial medullary thyroid carcinoma

Familial medullary thyroid cancer (FMTC) causes thyroid cancer because of the changes in the RET or the NTRK1 genes. The RET gene makes the RET protein which is used to help cells survive and make new cells. If there is a change in the RET gene, this can cause the RET protein to signal cells to continue to grow and create new cells. These signals can lead to tumor formation in the thyroid leading to FMTC.

The NTRK1 gene makes the NTRK1 protein, which is involved in cell growth and can also lead to death in some cells. When there is a change in the NTRK1 gene, there can be too much of the NTRK1 protein being made. Because of this, cells are signaled to continue to grow and may not undergo cell death. This excess cell growth can lead to tumor formation and cancer in the body like the thyroid.

If you are diagnosed with familial medullary thyroid cancer (FMTC), your family members may also be at risk to develop FMTC. If you are a parent, your children are at a 50% risk of inheriting a gene variant that may cause FMTC. Your first-degree relatives like your siblings are also at a 50% risk as they may have inherited the gene variant as well.

A genetic counselor can consult with you and create a family history pedigree to review affected family members. By reviewing this pedigree, at risk relatives can be identified and can also visit a genetic counselor to review the possibility of genetic testing. If you have genetic testing results, you can share them with your family members so that a genetic counselor can review the results and test other family members, as well. You can Find a Genetic Counselor from the National Society of Genetic Counselors within your area of the United States who can review this information.

To find other people with familial medullary thyroid cancer (FMTC) you can visit support groups and groups on facebook. The American Multiple Endocrine Neoplasia Support Group (AMENSupport) is a support group for people with FMTC and Multiple Endocrine Neoplasia. This group provides more information about the disorder along with medical centers you can visit with specialists.

The ThyCa: Thyroid Cancer Survivors’ Association, Inc. is a support group for individuals with FMTC. This group provides both local areas of support along with email support to affected individuals. Additionally, this support group gives more information on FMTC and video webinars.

The typical abbreviation for familial medullary thyroid carcinoma is FMTC.

Familial medullary thyroid carcinoma (FMTC) is a cancer predisposition condition that greatly increases the risk to develop thyroid cancer as an adult and somewhat increases the risk (less than 5%) of developing the other specific endocrine tumors. FTMC is caused by changes (mutations) in the RET gene or the NTRK1 gene. These gene change can be passed down from a parent or occur in a specific individual for the first time. FTMC is considered a type of multiple endocrine neoplasia type 2A (MEN2) a hereditary endocrine cancer syndrome.

Familial medullary thyroid carcinoma is considered a cancer syndrome as it it is associated with a significantly increased risk for thyroid cancer and a moderately increased risk (~5%) of developing the other specific endocrine tumors.

Familial medullary thyroid cancer (FMTC) genetic testing can usually be completed on blood or saliva. Genetic testing typically includes analyzing the RET and/or the NTRK1 genes for mutations. Genetic testing on these 2 genes can be done individually, along with other genes in a multigene panel, or select exon sequence analysis testing looking for known family mtuation. Testing for these genes usually uses sequence analysis along with gene deletion/duplication analysis. A genetic counselor can review different genetic testing options along with the necessary samples needed for these genetic tests. You can Find a Genetic Counselor from the National Society of Genetic Counselors within your area of the United States who can review this information.

Individuals diagnosed with familial medullary thyroid cancer (FMTC) should visit an endocrinologist and/or and oncologist for evaluations and management of the cancer. A consultation with a geneticist and/or a genetic counselor is also recommended in order to complete genetic testing for FMTC. Your doctor or a genetic counselor can help find endocrinologists or FMTC specialists in your area. A genetic counselor near to you can be found at the Find a Genetic Counselor from the National Society of Genetic Counselors.

For familial medullary thyroid cancer (FMTC), the outlook is very good, particularly when individuals are diagnosed before they develop cancer. The lifetime risk of developing medullary thyroid cancer is ~80%. It will usually develop at age 40-50 years of age. FMTC also somewhat increases the risk (less than 5%) of developing the other specific endocrine tumors. Remaining on top of all necessary screenings and following all of your doctors recommendations is a good way to detect thyroid cancer in early stages and/or other endocrine tumors.

Increased levels of calcitonin in the blood (hypercalcitoninemia) can be seen in people living with familial medullary thyroid cancer (FMTC). Calcitonin is a protein hormone made by the thyroid and individuals with high levels may have medullary thyroid cancer (MTC). Accordingly, hypercalcitoninemia is a tumor marker for MTC. Consistent high blood levels of calcitonin can also lead to diarrhea, which may be the first symptom for some people affected with MTC.

Doctors most often call familial medullary thyroid carcinoma by its full name "familial medullary thyroid carcinoma" or "familial medullary thyroid cancer." Doctors may refer to familial medullary thyroid carcinoma as part of the multiple endocrine neoplasia type 2 (MEN2) spectrum.

If an individual is diagnosed with familial medullary thyroid cancer (FMTC), they should watch for signs of endocrine cancer such as increased in diarrhea, elevated blood pressure, or a mass in the neck. Hormone levels should be screened to determine if an individual has increased levels of calcitonin, calcium, and phosphorus levels.

Familial medullary thyroid carcinoma (FMTC) can be caused by changes in one of two genes. These two genes are the RET gene and the NTRK1gene. The RET gene makes the RET protein that is used throughout the nervous system and in the development of kidneys and sperm in males. The RET protein is also important because it tells other cells to respond to environments and can tell other cells to grow and divide. A change in the RET gene can lead to the RET protein overworking and signaling cells to divide leading to tumor formation.

The NTRK1 gene makes a protein, the NTRK1 protein, that is also important for the neurons within the nervous system. The NTRK1 protein is used by neurons for growth and development and helps to send sensory signals such as temperature or pain throughout the body. Changes in the NTRK1 gene may lead to excess NTRK1 protein and overgrowth of cells. This overgrowth can lead to tumor formations and cancers in various parts of the body.

Familial medullary thyroid carcinoma is also called "familial medullary thyroid cancer" and is abbreviated "FMTC." FTMC is considered a type of multiple endocrine neoplasia type 2A (MEN2) a hereditary endocrine cancer syndrome.

A variant of uncertain significance, or a VUS, can be found in the RET gene or NTRK1 gene. If a VUS is found, this means that there is a change in one of these genes but that there may not be an increased risk for medullary thyroid cancer and is not a diagnosis.

To review genetic testing results, you can Find a Genetic Counselor from the National Society of Genetic Counselors within your area of the United States. A genetic counselor will be able to explain your genetic testing results to you.

The main symptoms of familial medullary thyroid cancer (FMTC) include neck pain, a palpable neck mass, and/or diarrhea which is due to high levels of calcitonin, which is made by the thyroid, in the blood. There can also be swelling or a nodule in the neck if the cancer spreads to surrounding areas such as the lymph nodes, liver, lungs, or bones. A nodule in the neck may also lead to some neck discomfort, as well.

The age of onset of these symptoms in FMTC is between 40 and 50 years of age which is earlier compared to non-familial medullary thyroid cancer, but later than other forms of multiple endocrine neoplasia type 2A (MEN2).

The biggest life-impacting implications of being diagnosed with familial medullary thyroid cancer (FMTC) are understand the risks to other family members and being monitoring and treated for thyroid cancer and other endocrine tumors. This can mean multiple doctors visits and tests on a regular basis. For some individuals it also includes decisions about removing the thyroid prior to any evidence of cancer and taking medications to replace the needed thyroid hormones.

For an individual who has medullary thyroid cancer caused by FMTC, there are different types of surgeries that may impact them in different ways in the long-term. Complications of thyroid surgery may include damage to the nearby parathyroid glands, which help regulate blood calcium levels; excessive bleeding; or wound infections. If the nerves to the larynx are damaged during surgery, this may cause temporary or permanent hoarseness.

Additionally, without the thyroid gland, the body stops producing thyroid hormone. Hormone replacement, usually in the form of a daily pill, can produce the hormones the thyroid used to secrete. Individuals may also have to take vitamin D and calcium supplements if the parathyroid gland’s function is reduced after surgery.

After a diagnosis of familial medullary thyroid cancer (FMTC) is made, a referral to an endocrinologist, oncologist, and a clinical geneticist and/or a genetic counselor should be made. The geneticist and/or genetic counselor can review possible genetic tests and genetic testing results. Biochemical test evaluations should be completed to review the plasma calcitonin levels, plasma catecholamines and metanephrines, and serum calcium and parathyroid hormone levels. It is also important to evaluate the FMTC to see if the cancer has metastasized. To do this, a computed tomography (CT) with contrast exam is done on the chest and the abdomen. An MRI should also be completed of the liver with nodal disease or in cases of high calcitonin levels.

You can visit a center of excellence, which is a genetic center that specializes in the treatment of people with FMTC. These centers provide individuals affected with FMTC with visits to oncologists, endocrinologists, geneticists, genetic counselors, nurses, and other specialists that work as a team to answer questions about FMTC, discuss testing of the affected individual and at-risk family members, and to develop a comprehensive evaluation and treatment plan. These centers of excellence can work with your current doctors to organize treatments, tests, and necessary specialists.

The palpable neck masses seen in familial medullary thyroid cancer (FMTC) are growths inside the neck or the lymph node that you can easily feel. These masses can be caused by the thyroid cancer or a spread of the cancer to surrounding lymph nodes. The neck masses may cause discomfort, neck pain, and difficulty swallowing.

Individuals with Familial medullary thyroid cancer (FMTC) are at high risk to develop thyroid cancer and the option may be suggested to have prophylactic removal of their thyroid. Typically, you can make the decision as to how much of your thyroid to have removed along with your doctor. Your doctor may recommend having the whole thing removed. More information about a total thyroidectomy can be found here. You may also wish to consult with a center of excellence in the monitoring and treatment of FMTC as a second opinion related to treatment options.

To find an expert, experienced doctor, or a team who takes care of familial medullary thyroid cancer (FMTC), you can speak to your primary care doctor for referrals to endocrinologists and/or specialists in FMTC. You can also visit support groups like AMENsupport or centers of excellence for FMTC to find doctors that specialize in FMTC.

Because familial medullary thyroid carcinoma is inherited in an autosomal dominant inheritance pattern, it means that every first degree relative of an affected individual has a 50% chance of also having it. First degree relatives are siblings, children, and parents. Second degree relatives should have testing after first degree relatives are all tested.

in a specific example, let’s say 27-year-old Andrea has been diagnosed with familial medullary thyroid carcinoma. Andrea has 3 children. EACH of her children has an individual 50% chance to also have it. Andrea has 2 siblings: one brother and one sister. EACH of her siblings has an individual 50% chance to also have it. Andrea’s mother has testing and is negative. This means that Andrea’s mothers side of the family does NOT need to have any more testing. Andrea’s father has testing and is positive. Each of Andrea’s father’s siblings should have testing as well, because they have an individual 50% chance of being positive as well.

You can also Find a Genetic Counselor from the National Society of Genetic Counselors within your area of the United States, who can review your family history and genetic testing results with you.

The main treatment for familial medullary thyroid cancer (FMTC) focuses on detecting, avoiding, and treating medullary thyroid cancer (MTC). Individuals with positive RET or NTRK1 gene variants for familial medullary thyroid cancer (FMTC) that do not have MTC can consider a prophylactic thyroidectomy. If a preventative thyroidectomy is not preformed, individuals can do annual biochemical calcitonin level screening to make sure serum calcitonin levels remain normal.

If an individual has MTC, the standard treatment for medullary thyroid cancer (MTC) is to surgically remove the thyroid (thyroidectomy) and surrounding lymph node dissection. Prior to the surgery, an ultrasound evaluation of the nodes can be done to see which node dissections are necessary to complete. After the operation, a biochemical test should be completed to review the plasma calcitonin levels because elevated levels may indicate that some of the MTC is still in the neck or a lymph node.

Therapeutic external beam radiation therapy (EBRT) or intensity-modulated radiation therapy (IMRT) may also be used. These therapies are used in cases that the tumor is not fully surgically removed. After the thyroidectomy, two kinase inhibitors known as vandetanib and cabozantinib can also be taken. These kinase inhibitors help to improve survival without progression of MTC and may help regression in some cases of metastatic MTC. Any person affected with MTC that has a thyroidectomy should also undergo thyroid replacement therapy.

You can visit a center of excellence, which is a cancer treatment center that specializes in the treatment of people with FMTC. These centers provide individuals affected with FMTC with visits to oncologists, endocrinologists, geneticists, genetic counselors, nurses, and other specialists that work as a team to answer questions about FMTC, discuss testing of the affected individual and at-risk family members, and to develop a comprehensive evaluation and treatment plan. These centers of excellence can work with your current doctors to organize treatments, tests, and necessary specialists.

There are various tests for FMTC. Initially, a biochemical test can be completed to indicate if a person may have medullary thyroid cancer (MTC). The biochemical test is a blood test that looks at levels of plasma calcitonin to see if it is elevated. Elevated levels of plasma calcitonin are a marker for MTC. A biopsy of the thyroid gland or of a nodule in the neck can also be done to diagnosis a person with MTC. The biopsied sample then gets stained in order to look at the cells to diagnose a person with MTC.

Genetic testing can also be done to diagnose an individual with familial medullary thyroid cancer. After reviewing clinical criteria, genetic testing can be completed to see if an individual has a variant in a gene that predisposes oneself to familial medullary thyroid cancer (FMTC). Various genetic tests can be completed such as single gene testing of the RET and NTRK1 genes using sequencing and deletion/duplication analysis. Other genetic tests that can be completed at multigene panels which tests multiple genes through sequencing or select exon testing which uses sequence analysis of specific exons in the genome to fine disease causing variants. A genetic counselor can review the different testing options available for FMTC. You can Find a Genetic Counselor from the National Society of Genetic Counselors within your area of the United States who can review this information. If you have any questions or concerns about these tests, consult with your doctor.

As of January 16, 2020, there are ongoing clinical trials researching familial medullary thyroid cancer (FMTC). You can visit [link url="clinicaltrials.gov” target=”_blank”>Clinicaltrials.gov for more information on clinical trails related to FMTC.

Testing for familial medullary thyroid carcinoma is not currently a part of standard newborn testing in any state.

Familial medullary thyroid carcinoma (FMTC) is not, as a syndrome, more common in certain ethnicities or populations; however, there are gene mutations in the RET gene seen more frequently in Portugal, Brazil, and Greece.

Individuals with a RET gene or NTRK1 gene change may not have symptoms until there is a tumor in the thyroid. If the tumor is removed through surgery, the symptoms caused by familial medullary thyroid cancer (FMTC) can be treated. FMTC symptoms can be different between family members and some family members may not even exhibit symptoms at all.

FMTC is within the Multiple Endocrine Neoplasia Type 2 spectrum but has lower risk for pheochromocytoma (an adrenal gland tumor) and other endocrine tumors that other MEN2 types.

Individuals who have been diagnosed with familial medullary thyroid cancer (FMTC) and are working with a primary care physician, should be referred to genetics to further understand the implications of the diagnosis to their family as well as an endocrinologist and oncologist to monitor and manage the FMTC. They can also provide more information about other specialists that you might need to see to provide appropriate management and care for FMTC. To find an expert, experienced doctor, or a team who takes care of familial medullary thyroid cancer (FMTC), you can speak to your primary care doctor for referrals to endocrinologists and/or specialists in FMTC. You can also visit support groups like AMENsupport or centers of excellence for FMTC to find doctors that specialize in FMTC.

Cancer is not guaranteed to occur in everyone who has familial medullary thyroid carcinoma (FMTC). It is possible to go a lifetime without developing thyroid cancer. However, individuals living with FMTC have an approximately 80% chance to develop medullary thyroid cancer at some point in their lives. Remaining on top of all necessary screenings and following all of your doctors recommendations is a good way to detect thyroid cancer in early stages and/or other endocrine tumors.

Families with familial medullary thyroid cancer (FMTC) caused by a gene change in the RET gene or the NTRK1 gene have a 50% risk to pass FMTC to their children. In fact, every first degree relative (child, parent, or sibling) has a 50% risk to have FMTC.

In order to learn more about their risk and genetic testing, family members can Find a Genetic Counselor from the National Society of Genetic Counselors within their area of the United States.

Individuals with Familial medullary thyroid cancer (FMTC) who develop and are treated for medullary thyroid cancer will experience some life changes. After treatment is over, you may have to make some adjustments to your life. Individuals may have to take a daily hormone replacement pill, and depending on the function of your parathyroid glands, you may also have to take vitamin D and calcium supplements. Other side effects related to the therapy may impact other aspects of life as well. There is also a different schedule of assessments and monitoring that will be directed by endocrinology and oncology.

Familial medullary thyroid cancer (FMTC) is inherited in an autosomal dominant manner. This means that a person who is found to have a change in the RET gene or the NTRK1 gene has a 50% chance of passing that nonworking gene on to future children. Because there is a 50% chance of inheriting a non-working gene and being diagnosed with FMTC, However, not all family members with FMTC may develop medullary thyroid cancer (MTC) or the medullary thyroid cancer can develop at different ages. Knowing that a person has FMTC can help their doctors develop the best plan for monitoring and treating individuals at such a high risk for thyroid cancer.

Familial medullary thyroid cancer (FMTC) is a rare form of thyroid cancer accounting for less than 1% of all thyroid cancers. FTMC is considered a type of multiple endocrine neoplasia type 2 (MEN2) a hereditary endocrine cancer syndrome. The total prevalence of MEN2 variants is approximately 1/35,000 and FMTC accounts for 10-20% of that total.

Familial medullary thyroid cancer (FMTC) is inherited in an autosomal dominant manner. This means that a person who is found to have a change in the RET gene or the NTRK1 gene has a 50% chance of passing that nonworking gene on to future children. Because there is a 50% chance of inheriting a non-working gene and being diagnosed with FMTC, However, not all family members with FMTC may develop medullary thyroid cancer (MTC) or the medullary thyroid cancer can develop at different ages.

There are various methods of testing for familial medullary thyroid cancer (FMTC). Typically to diagnosis an individual with FMTC, there are clinical tests combined with molecular genetic testing.

Initially, a biochemical test can be completed to indicate if a person may have medullary thyroid cancer (MTC). The biochemical test is a blood test that looks at levels of plasma calcitonin to see if it is elevated. Elevated levels of plasma calcitonin are a marker for MTC. A biopsy of the thyroid gland or of a nodule in the neck can also be done to diagnosis a person with MTC. The biopsied sample then gets stained in order to look at the cells to diagnose a person with MTC.

Additional clinical criteria that suggest an individual has FMTC include having medullary thyroid cancer (MTC) without a diagnosis of pheochromocytoma (adrenal gland tumors) or parathyroid adenoma/hyperplasia. To be diagnosed with FMTC clinically, an individual must also have four or more family members diagnosed with MTC.

Molecular genetic testing can also be done in cases of MTC that may suggest FMTC but with no or limited family history of the disorder. Molecular testing can be done on the RET gene and the NTRK1 gene, on these genes and multiple other genes of interest, or on specific exons within the genome. Molecular genetic testing can be done by a genetic counselor. An individual diagnosed with FMTC can Find a Genetic Counselor from the National Society of Genetic Counselors within your area of the United States, who can review your family history and appropriate molecular genetic tests.

Individuals with Familial medullary thyroid cancer (FMTC) are often tasked with telling their family about their risk to also be affected. If you are put in this position, speaking with a genetic counselor is a great place to start. Genetic counselors can help provide resources and ways to tell your family, whether it be through a letter or advice on how to start the conversation. To find a genetic counselor in your area, visit findageneticcounselor.com.

To help research in familial medullary thyroid cancer (FMTC), you can donate money to support groups for FMTC, foundations, and to research academic centers of excellence doing research. A support group for FMTC is AMENSupport . Additionally, you can find more information at the National Organization of Rare Diseases (NORD), [link url="www.cancer.org” target=”_blank”>American Cancer Society , and the [link url="www.cancer.org” target=”_blank”>National Cancer Institute .

There are various methods of testing for familial medullary thyroid cancer (FMTC). Typically to diagnosis an individual with FMTC, there is clinical criteria combined with molecular genetic testing. Clinical criteria that suggest an individual has FMTC include having medullary thyroid cancer (MTC) without a diagnosis of pheochromocytoma (adrenal gland tumors) or parathyroid adenoma/hyperplasia. To be diagnosed with FMTC clinically, an individual must also have four or more family members diagnosed with MTC.

Molecular genetic testing can also be done in cases of MTC that may suggest FMTC but with no or limited family history of the disorder. Molecular testing can be done on the RET gene and the NTRK1 gene, on these genes and multiple other genes of interest, or on specific exons within the genome. Molecular genetic testing can be done by a genetic counselor. An individual diagnosed with FMTC can Find a Genetic Counselor from the National Society of Genetic Counselors within your area of the United States, who can review your family history and appropriate molecular genetic tests.

To find ongoing research in familial medullary thyroid cancer (FMTC), you can visit [link url="clinicaltrials.gov” target=”_blank”>clinicaltrials.gov which outlines current clinical trials for FMTC. If you are interested in being a part of a clinical trial, consult with your doctor and family and friends to ensure you are right for the clinical trial. Your doctor should be able to contact the research team on a studies page to see if you are eligible to participate in a study.

There are also support groups that may have information on clinical trials and medical centers for FMTC. The American Multiple Endocrine Neoplasia Support (AMENSupport), The National Cancer Institute , and the [link url="www.cancer.org” target=”_blank”>American Cancer Society may also provide more information on future clinical trials and studies.

To find an expert, experienced doctor, or a team who takes care of familial medullary thyroid cancer (FMTC), you can speak to your primary care doctor for referrals to endocrinologists and/or specialists in FMTC. You can also visit support groups like AMENsupport or centers of excellence for FMTC to find doctors that specialize in FMTC.

Not all cases of medullary thyroid cancer are caused by gene mutations; however, cases of familial medullary thyroid cancer (FMTC) are caused by a gene change in either the RET gene or the NTRK1 gene.

If someone tests negative for a change in the RET gene or the NTRK1 gene, they are at a decreased risk for medullary thyroid cancer (MTC) compared to family members. In these cases, individuals would be at general population risk for MTC.

To review genetic testing results and risk for MTC, you can Find a Genetic Counselor from the National Society of Genetic Counselors within your area of the United States. A genetic counselor will be able to explain your genetic testing results to you.

Prenatal testing for pregnancies at increased risk is possible if the mutation or pathogenic variant in the RET gene or the NTRK1gene present in the family has been identified in an affected family member. PGD is performed on embryos produced through IVF. PGD allows for parents to only implant embryos into the mother’s uterus that do not have the RET gene mutation.

In prenatal testing, the baby’s DNA is tested during the pregnancy to determine whether the baby has the RET gene mutation. The procedures available to obtain the baby’s DNA during a pregnancy include chorionic villus sampling (CVS) or amniocentesis.

If you have questions about PGD or prenatal testing for FMTC, contact your doctor and ask for a referral to a genetic counselor. Genetic counselors can help explain prenatal genetic testing options. In the US, a genetic counselor can be located at the Find a Genetic Counselor website on the National Society of Genetic Counselor website.

Familial medullary thyroid cancer (FMTC) is a part of the Multiple Endocrine Neoplasia Type 2 (MEN2) spectrum. The three types of MEN2 in this spectrum are: FMTC, MEN 2A, and MEN 2 B. All three disorders on the spectrum are associated with medullary thyroid cancer (MTC); however, MEN 2A and MEN 2B have other features that help to distinguish between the three disorders. Individuals with MEN 2A and MEN 2B have a high risk to develop pheochromocytoma (adrenal tumors), and hyperparathyroidism. People living with MEN 2B may also have associated facial features and childhood onset of endocrine tumors.. Because MTC is found in all three disorders, prior to diagnosing FMTC, these other features must be ruled out and familial criteria must be met.

There are other diseases that may look similar to FMTC. Individuals with Sporadic MTC are also found to have cancer of the thyroid without a family history of MTC. C-cell hyperplasia can lead to high levels of calcitonin in the blood along with neuroendocrine lung or gastrointestinal tumors, sepsis, chronic renal failure, autoimmune thyroid disease and type 1A pseudohypoparathyroidism.

Multiple endocrine neoplasia type 1 (MEN 1) and multiple endocrine neoplasia type 4 (MEN 4) are other disorders associated with the endocrine system. MEN 1 is associated with tumors of the pituitary gland, the pancreatic islet cells, along with parathyroid hyperplasia or adenomas. Other features include tumors of the adrenal cortex, carcinoid tumors, and non-cancerous tumors of the fatty tissue called lipomas. MEN 4 is also associated with pituitary tumors and hyperparathyroidism.

Familial medullary thyroid carcinoma is considered a cancer syndrome as it it is associated with a significantly increased risk for thyroid cancer. However, there is also a lower probability (less than 5%) of developing the other specific endocrine tumours usually associated with multiple endocrine neoplasia Type 2 (MEN2). These tumors include: pheochromocytoma (rare tumor of adrenal gland), and parathyroid adenoma (noncancerous tumor in the parathyroid a gland that makes a hormone that helps control the amount of calcium and phosphorus in the blood).

The American Multiple Endocrine Neoplasia Support group (AMENSupport) is a support group for people with Multiple Endocrine Neoplasia and familial medullary thyroid cancer (FMTC). The group provides more information on the various types of Multiple Endocrine Neoplasia along with medical centers with specialists in Multiple Endocrine Neoplasia. AMENSupport and participating medical centers host information seminars, guest speakers, and bring awareness to Multiple Endocrine Neoplasia and FMTC.

The ThyCa: Thyroid Cancer Survivors’ Association, Inc. also provides information about thyroid cancer, research, and FMTC physicians. In addition, they provide an email to a support group and have local support groups throughout the United States.

An individual can be diagnosed with medullary thyroid cancer (MTC) and not have familial medullary thyroid cancer (FMTC). 75% of MTC cases are sporadic and may have no genetic change that caused the cancer formation. If you are concerned with your diagnosis, discuss any concerns with your doctor. You can also Find a Genetic Counselor from the National Society of Genetic Counselors within your area of the United States, who can review your family history and genetic testing results with you.

Familial Medullary Thyroid Cancer (FMTC) is a subtype of Multiple Endocrine Neoplasia Type 2 or MEN2 that is caused by a change in the RET gene. The other two subtypes within Multiple Endocrine Neoplasia Type 2 are MEN 2A and MEN 2B. All three subtypes affect the body’s endocrine system which is involved in hormone production within the body. The common clinical features between the three subtypes is increased risk for an medullary thyroid cancer (MTC).

MEN 2A is commonly found to have one or more tumors within the endocrine system. Individuals with MEN 2A are at an increased risk for MTC in their early adulthood. Common features of MEN 2A include MTC, pheochromocytoma, or parathyroid adenoma/hyperplasia. Pheochromocytoma is a tumor in the adrenal glands located on top of the kidneys. Parathyroid adenomas are non-cancerous tumors in the parathyroid glands, which are small glands located near the thyroid gland. Similar to the thyroid, the parathyroid produces hormones to help control levels of calcium and phosphorus in the blood. A parathyroid adenoma can lead to there being high levels of calcium and phosphors in the blood. Additionally, MEN 2A can be associated with other parathyroid diseases such as hyperparathyroidism with high blood calcium levels and renal stones.

MEN 2B is similar to MEN 2A in that individuals are at an increased risk for endocrine tumors. Individuals with MEN 2B are at an increased risk for MTC in their early childhood and for pheochromocytomas, a tumor of the adrenal glands. About 50% of individuals with MEN 2B have pheochromocytomas and half of those individuals have tumors in both adrenal glands. Unlike MEN 2A, individuals with MEN 2B do not have parathyroid disease. They may also have mucosal neuromas that can be found on the surface of the tongue, lips, palate, or pharynx and can appear in infancy of early childhood. These mucosal neuromas lead to specific facial features including prominent or "blubbery" lips with submucosal nodules on the vermilion border or the outside of the lips. Neuromas can also be found on the eyelids which can cause thickening and eversion of the upper eyelids. Other facial features include an elongated face, a high arched palate, prominent and large eyebrows, and a protruding jaw. Under an eye slit lamp examination, an individual can also be found to have thickened corneal nerves. In about 75% of individuals with MEN 2B, marfanoid habitus can be unidentified which includes, joint laxity, decreased subcutaneous fat, kyphoscoliosis or lordosis, pes caves, and muscle wasting or weakness. Diffuse ganglioneuromatosis, or hamartomatous polyposis, within the gastrointestinal tract can be found in about 40% of individuals with MEN 2B. This can cause abdominal distension, constipation, diarrhea, and megacolon which may begin between infancy to early childhood.