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medullary thyroid carcinoma

Causes

Cancer of the thyroid gland originates from parafollicular cells (C cells), which produce calcitonin. MTC can occur sporadically or as part of a genetic syndrome.

  • About 75% of cases of MTC are sporadic, occurring without a family history.

  • MTC associated with genetic conditions such as Multiple Endocrine Neoplasia type 2 (MEN 2) and mutations in the RET proto-oncogene constitute about 25% of cases.

Symptoms

There are a variety of symptoms associated with medullary thyroid carcinoma, including:

  • Nodule or lump in the neck that is noticeable.

  • An ache in the neck, sometimes radiating to the ears.

  • Voice changes, including hoarseness.

  • A feeling of something stuck in the throat or difficulty swallowing.

  • A shortness of breath or difficulty breathing is a breathing difficulty.

  • Unexplained diarrhea, which can be caused by elevated calcitonin levels.

  • An episode of flushing of the skin.

Diagnosis

There are several steps involved in diagnosing medullary thyroid carcinoma:

  • Assessing symptoms and any family history of thyroid or endocrine disorders.

  • MTC patients often have elevated blood levels of calcitonin and carcinoembryonic antigen (CEA).

  • Nodules are identified through ultrasound imaging of the thyroid gland.

  • The Fine Needle Aspiration Biopsy (FNAB) is used to detect cancerous changes in thyroid nodules.

  • Patients with a family history of MTC or other endocrine tumors should be tested for mutations of the RET gene.

  • Checking for cancer spread with CT scans, MRIs, or PET scans.

Treatment

The treatment for medullary thyroid carcinoma involves removing the cancer and managing the symptoms:

  • Thyroidectomy (removal of the thyroid gland) is the primary treatment, often accompanied by lymph node removal.

  • Cancer cells can be targeted and killed with external beam radiation.

  • Medications like tyrosine kinase inhibitors (e.g., vandetanib, cabozantinib) are used in advanced cases to target specific cancer cell pathways.

  • In cases of advanced or metastatic MTC, chemotherapy may be considered.

  • Follow-up appointments are scheduled regularly to monitor calcitonin and CEA levels, and to detect recurrences.

Prevention

The following measures can be taken to prevent medullary thyroid carcinoma, particularly hereditary forms:

  • In individuals with a family history of MTC or MEN 2, genetic testing for RET mutations is crucial.

  • MTC can be significantly reduced by preventive thyroidectomy in individuals with known RET mutations.

  • Those at risk who do not undergo prophylactic surgery can benefit from regular blood tests and ultrasounds to detect thyroid changes early.

Conclusion

A thyroid cancer arising from the thyroid gland's C cells is called medullary thyroid carcinoma. In order to effectively manage the condition, it is essential to understand its causes, recognize symptoms early, obtain a precise diagnosis, and follow appropriate treatment protocols. Individuals at risk of MTC can significantly reduce their risk and improve their outcomes with preventative measures, particularly for hereditary forms. In order to detect and address any recurrence or progression of the disease, regular follow-up and monitoring are crucial.

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