Medullary cancer – a genetic pathology of the thyroid gland or a disease of the endocrine system?

Medullary thyroid cancer is a rare disease. It characterizes itself as an aggressive form of mutation and often proceeds without pronounced symptoms. Therefore, it is quite difficult to diagnose the disease. Symptoms appear at the stage of metastasis, and treatment is operational.

Signs of pathology

There are several symptoms that indicate that a patient has medullary thyroid cancer:

  • the appearance of a tumor in the anterior surface of the neck;
  • swelling is formed in the area of the lymph nodes;
  • the timbre of the voice changes, hoarseness appears;
  • there is a sore throat;
  • the person has trouble swallowing food.

The first sign of cancer is the appearance of a seal in the neck. It does not cause much discomfort to a person, since at an early stage of the development of the disease, the seal is painless.

There is also swelling in the area of the lymph nodes, which lose their mobility, and on palpation a person may feel unpleasant, painful sensations.

Pain and swelling of the lymph nodes is a sign of an inflammatory or infectious disease. But in certain cases, a similar symptom may indicate that a person develops an oncological disease.

Sore throat, problems with swallowing food are symptoms that develop at a late stage, when a malignant tumor grows into the larynx and leads to problems with breathing and eating.

Separate metastasis occurs in 20-25% of patients with medullary thyroid cancer. Metastases penetrate into organs and tissues, most often affecting the lungs, bone tissue and liver. In this case, the patient may experience non-specific symptoms.

Diagnosis and classification

The pathological process has several stages of development. If the mutation is aggressive, then the disease can proceed quickly.

Common classification:

  1. If the disease develops for no apparent reason, then we are talking about a sporadic form of cancer.
  2. The cause of cell mutation can also be a hereditary predisposition to this type of disease. A variant of this medullary thyroid cancer is classified as MEN II-A syndrome.
  3. MEN II-B syndrome is a fairly aggressive form of cancer. Pathology is diagnosed in children and has an unfavorable prognosis.
  4. The hereditary form of medullary cancer develops when the patient has a hereditary predisposition. At the same time, oncology has no connection with the development of pathologies of the endocrine system.

The hereditary form of cancer develops due to the mutation of DNA cells. This mutation can be detected by a blood test. In this case, it is possible to prevent the development of the disease even before the first symptoms of the pathology appear.

In most cases, medullary cancer is diagnosed in people of mature age. At risk are people older than 35-40 years.

List of diagnostic procedures:

  • Ultrasound of the thyroid gland and lymph nodes;
  • blood test for tumor markers ;
  • blood test for calcitonin levels;
  • biopsy of lymph node tissue followed by histological examination.

With medullary cancer, the level of calcitonin in the blood increases. Cancer can be diagnosed with a single blood test.

Often, thyroid cancer develops against the background of prolonged and persistent diarrhea. An upset stomach occurs due to the fact that calcitonin affects the enzymes of the gastrointestinal tract (gastrointestinal tract).

Treatment and prognosis

Therapy for medullary thyroid cancer does not have a conservative approach. If a tumor formation is detected, surgical intervention and complete removal of the malignant formation are recommended. Treatment with radioactive iodine is not used: the reason is that in medullary cancer, C-cells do not accumulate iodine.

If a cell mutation in DNA is detected, removal of the thyroid gland is recommended. The operation is performed in the absence of signs of pathology and with a normal level of calcitonin in the blood.

The effectiveness of surgical intervention is due to the complete removal of the malignant neoplasm. But after the operation, it is necessary to regularly visit the endocrinologist, donate blood to determine the level of calcitonin in the blood.

The prognosis directly depends on the form of the disease and the presence of metastases in the patient.

  1. A survival rate of 20% is observed in patients with isolated metastasis to distant organs.
  2. A survival rate of 70-90% is observed in MEN II-A syndrome. This forecast is considered the most favorable.
  3. In MEN II-B syndrome, the prognosis is conditionally unfavorable; the reason is that this form of medullary thyroid cancer is extremely aggressive and has a high tendency to form metastases.

The genetic predisposition to the development of medullary thyroid cancer is due to the mutation of DNA cells. To identify such a pathology is simple, it is enough to donate blood for analysis. Children and adults are at risk. Signs of cancer in children are more often diagnosed at the age of 5 years. In this case, the disease can manifest itself at a very advanced age.

If a person has a hereditary predisposition to the development of this form of cancer, then it is easier to prevent it. Therefore, if one of the family members has been diagnosed with a similar disease, it is worth checking all the next of kin for the presence of a mutation in them.

Medullary thyroid cancer is a pathology that develops rapidly. In the early stages, it is extremely difficult to suspect the presence of a tumor formation, so it is worth having an examination once a year and donating blood to determine the level of calcitonin in the blood.

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