Medullary Carcinoma - Symptoms, Types, Causes & Diagnosis

Medullary Carcinoma - Symptoms, Types, Causes & Diagnosis

The thyroid gland can develop a malignancy called medullary carcinoma. Less than 5% of thyroid tumours occur in this uncommon subtype, which is unusual. The parafollicular cells, also known as C-cells, which are in charge of...

The thyroid gland can develop a malignancy called medullary carcinoma. Less than 5% of thyroid tumours occur in this uncommon subtype, which is unusual. The parafollicular cells, also known as C-cells, which are in charge of manufacturing the hormone calcitonin, which aids in controlling the body's calcium levels, give rise to medullary cancer.

Medullary carcinoma, in contrast to other forms of thyroid cancer, is frequently inherited and has been linked to RET proto-oncogene mutations. Medullary carcinoma is more likely to affect those with genetic abnormalities such as multiple endocrine neoplasia type 2 (MEN2).

Possible reasons for its occurrence

  • The unrestricted division of the parafollicular or C-cells in the thyroid gland results in medullary cancer of the thyroid.
  • In some instances, genetic abnormalities, particularly those affecting the RET proto-oncogene, are the root cause of this aberrant cell proliferation. Both spontaneous and hereditary mutations might take place during a person's lifetime.
  • Medullary carcinoma is more likely to affect those with genetic abnormalities such multiple endocrine neoplasia type 2 (MEN2).
  • A history of goitre, radiation exposure, and certain genetic diseases including neurofibromatosis type 1 are additional risk factors.
  • It's important to note that the precise cause of medullary cancer in situations without genetic alterations is not well understood. However, it is believed to be caused by a confluence of hereditary and environmental variables, as is the case with many malignancies.

Hyperthyroidism and medullary cancer relationship

The thyroid gland may be impacted by two distinct conditions:

Hyperthyroidism and medullary carcinoma. While medullary carcinoma is a form of cancer that affects the C-cells in the thyroid gland, hyperthyroidism is a condition where the thyroid gland generates excessive amounts of thyroid hormone.

Although both medullary cancer and hyperthyroidism can have an impact on the thyroid gland, there is no direct connection between the two. The risk of developing other thyroid diseases, such as hyperthyroidism, may also be higher in those with specific genetic abnormalities that enhance the risk of medullary carcinoma.

The majority of cases of hyperthyroidism are not caused by cancer, and medullary cancer is an uncommon type of thyroid cancer. if you have thyroid health concerns so they can help you identify the root of your symptoms and suggest the best course of action.

Dietary relationship

There is no conclusive evidence linking a particular diet to medullary carcinoma. As a general precaution for overall health and cancer prevention, it's crucial to keep a healthy and balanced diet.

According to several studies, a diet rich in fruits, vegetables, and whole grains may reduce the chance of developing some cancers, such as thyroid cancer. Additionally, some studies indicate that ingesting too much iodine from dietary supplements or iodized salt may raise the chance of developing thyroid cancer, though further study is needed to confirm this.

A qualified dietician or another healthcare provider can offer advice on leading a healthy lifestyle and diet to people who have been diagnosed with medullary cancer or who have a higher risk of getting the disease due to genetic abnormalities. As part of the overall therapy strategy, specific dietary restrictions or alterations may occasionally be advised.

Who is more prone to medullary carcinoma:

  • Medullary carcinoma is more likely to affect those with genetic abnormalities such as multiple endocrine neoplasia type 2 (MEN2).
  • Mutations in the RET proto-oncogene are the root cause of the uncommon genetic disorder MEN2. MEN2A, MEN2B, and familial medullary thyroid cancer are the three subtypes of MEN2. (FMTC). Medullary carcinoma and other endocrine tumours are both very susceptible to MEN2A and MEN2B mutations. FMTC, a milder variation of MEN2, is mostly linked to medullary cancer.
  • Besides genetics, other risk factors for medullary cancer development include radiation exposure, a history of goitre, and specific genetic abnormalities such neurofibromatosis type 1.
  • Medullary carcinoma is an uncommon type of thyroid cancer, and the majority of cases are not inherited, it is crucial to mention. if you are concerned about your risk for medullary carcinoma or other thyroid disorders. They can help you identify your own risk factors and suggest suitable screening and prevention methods.

Genetic/ familial Relationship

  • Medullary carcinoma of the thyroid is often hereditary and can be related to genetic abnormalities in the RET proto-oncogene. These mutations can be inherited from a parent or can occur spontaneously during a person's lifespan. 
  • Multiple endocrine neoplasia type 2A (MEN2A) and multiple endocrine neoplasia type 2B are the two main kinds of hereditary medullary thyroid carcinoma (MTC). (MEN2B). Both MEN2A and MEN2B are inherited in an autosomal dominant way and are brought on by mutations in the RET gene.
  • As a result, a person only has to inherit one copy of the mutant gene from one parent to experience the symptoms of the disease.
  • Medullary carcinoma is more likely to affect those with genetic disorders like MEN2A or MEN2B as well as those with a family history of the disease. A person's chance of having medullary cancer can be determined through genetic testing, which can also detect RET gene alterations.
  • It's crucial for people with a family history of medullary carcinoma to discuss genetic counselling and testing with a healthcare practitioner in order to understand their risk and create a screening schedule to find any potential cancer early.

Risk for goitre patient

  • Although the majority of goitre instances do not result in cancer, people with goitre, an enlarged thyroid gland, may have a slightly elevated chance of developing medullary carcinoma of the thyroid.
  • Iodine deficiency is the most frequent cause of goitre, however the condition can also be brought on by autoimmune diseases, thyroid nodules, and thyroiditis. Medullary carcinoma is one of these disorders that may make you more likely to get thyroid cancer.
  • Working with a healthcare practitioner to identify the underlying cause of your goitre and keeping an eye out for any changes in the condition is crucial. A biopsy or other imaging tests could be suggested in some circumstances to help find any potential malignant or precancerous abnormalities in the thyroid gland.
  • It's important to remember that while goitre may be linked to a higher risk of thyroid cancer, the majority of instances do not progress to cancer. In order to manage the disease and lower the risk of consequences, a healthcare professional may advise regular monitoring and the proper course of therapy.

Risk of Radiation Exposure

  • Radiation exposure is a biggest risk factor for developing thyroid medullary cancer, particularly during infancy or adolescence. Longer exposure times and greater radiation doses increase the danger.
  • Medical radiation (such as radiation therapy for childhood malignancies), occupational radiation (such as workers in nuclear power plants), and environmental radiation are only a few of the sources of radiation exposure. (such as nuclear accidents or weapons testing).
  • Although the risk of medullary cancer from radiation exposure is often minimal, it can be serious in those who have received a lot of radiation. For advice on suitable screening and preventative methods, those who have a history of radiation exposure and are worried about their risk for thyroid cancer should consult with a healthcare provider.
  • The vast majority of thyroid malignancies are not caused by radiation exposure, despite the fact that it is a risk factor for thyroid medullary carcinoma. In order to manage the disease and lower the risk of consequences, a healthcare professional may advise regular monitoring and the proper course of therapy.

Preventive measures one Should take

The effectiveness of preventive strategies for thyroid medullary cancer depends on each person's unique risk factors:

  • Understand your ancestry: Talk to your healthcare provider about genetic counselling and testing if you have a family history of medullary carcinoma or multiple endocrine neoplasia type 2 (MEN2). Your chance of having medullary carcinoma can be determined with the use of a genetic mutation, which can also help guide screening and prevention methods.
  • Control other risk factors: Medullary carcinoma risk may be decreased by avoiding radiation exposure and treating illnesses like goitre or autoimmune disorders.
  • Regular screening: People who have a family history of medullary carcinoma or genetic syndromes like MEN2 ought to go through regular screening, which may entail blood testing, imaging exams, and biopsies.
  • A healthy lifestyle can help lower the chance of getting several cancers, including thyroid cancer. This includes eating nutritious food, keeping a healthy weight, and abstaining from tobacco use.

If you have questions regarding your risk for medullary carcinoma of the thyroid or other thyroid problems. They can assist in identifying your unique risk factors and suggest suitable screening and prevention measures.

Symptoms patient encounters with

many different indications, some of which include:

  • Neck lump or swelling: A neck lump or swelling, including medullary carcinoma, is the most typical symptom of thyroid cancer.
  • Esophageal or tracheal compression brought on by a big thyroid tumour might make it difficult to breathe or swallow.
  • Hoarseness: The thyroid gland is in close proximity to the recurrent laryngeal nerve, which regulates the vocal cords. Hoarseness may result from the nerve being compressed by a thyroid tumour.
  • Rarely, thyroid medullary carcinoma can result in neck pain, particularly if the malignancy has spread to adjacent lymph nodes or tissues.
  • Flushing or diarrhoea: In rare instances, medullary thyroid cancer might releases hormones that lead to these symptoms or other "carcinoid syndrome" signs and symptoms.
  • It's vital to keep in mind that some thyroid medullary carcinoma patients may not exhibit any symptoms at first, and the disease may be discovered by chance during a normal physical examination or imaging test.

Diagnostic Test for medullary cancer

The following simple to sophisticated diagnostic procedures may be performed to identify thyroid medullary carcinoma:

  • Physical examination: To look for nodes in the neck, a medical expert may conduct a physical examination. They might examine any additional symptoms, like trouble breathing or swallowing.
  • Blood tests: calcitonin, a protein that is made by medullary thyroid cancer cells. Calcitonin levels that are elevated may indicate medullary cancer. To evaluate thyroid and parathyroid function, further blood tests may also be carried out, such as those for thyroid function and parathyroid hormone levels.
  • Ultrasound: An ultrasound produces images of the thyroid gland and its surroundings by using high-frequency sound waves. It can identify the number, size, and shape of thyroid nodules as well as whether or not they are filled with fluid.
  • A biopsy includes taking a small tissue sample from the thyroid gland or a neck lymph node and studying it under a microscope. This procedure is known as a fine-needle aspiration (FNA) biopsy. If the nodule is malignant or benign, this test can assist in determining that.
  • Imaging studies: CT, MRI, or PET scans, in addition to ultrasound, may be performed to visualise the thyroid gland and its surrounding tissues and find any abnormal growths or nodules. These examinations can also be used to evaluate malignancy.
  • Genetic testing: Individuals with a family history of medullary carcinoma or multiple endocrine neoplasia type 2 (MEN2), an inherited disorder that raises the risk of developing medullary carcinoma, may be advised to undergo genetic testing.


  • Surgery to remove the thyroid gland and any afflicted lymph nodes is frequently used to treat thyroid medullary cancer. other treatment choices can include radiation therapy, chemotherapy, or targeted therapy.
  • Prophylactic thyroidectomy may be advised in those with MEN2 or a genetic mutation linked to medullary carcinoma to stop the growth of malignancy.
  • The best course of action for your particular case. A multidisciplinary team of healthcare experts, including endocrinologists, surgeons, oncologists, and radiation therapists, often oversees the treatment of thyroid medullary cancer.

In conclusion, medullary thyroid carcinoma is an uncommon form of cancer that develops from the thyroid's C-cells. It can be aggressive and negatively affect a person's health and well-being.

Individualised treatment plans and prompt and precise diagnosis can help people with thyroid medullary cancer have better outcomes. Even though medullary carcinoma of the thyroid can be difficult to detect and cure, current research and improvements in medical technology provide those who are impacted by this disease hope for better treatment options and a higher quality of life. We may work towards better medullary cancer of thyroid prevention, diagnosis, and treatment by promoting awareness and assisting research efforts.