Medullary Thyroid Carcinoma Clinical Presentation

Updated: Feb 09, 2017
  • Author: Anastasios K Konstantakos, MD; Chief Editor: Neetu Radhakrishnan, MD  more...
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Presentation

History

A specific constellation of symptoms of medullary thyroid carcinoma (MTC) is not usually noted; however, one or more of the following symptoms may be observed:

  • Patients may describe a lump at the base of the neck, which may interfere with or become more prominent during swallowing

  • Patients with locally advanced disease may present with hoarseness, dysphagia, and respiratory difficulty

  • Although uncommon, patients may present with various paraneoplastic syndromes, including Cushing or carcinoid syndrome

  • Diarrhea may occur from increased intestinal electrolyte secretion secondary to high plasma calcitonin levels

  • Distant metastases (eg, lung, liver, bone) may result in weight loss, lethargy, and bone pain

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Physical

See the list below:

  • Physical examination may demonstrate a dominant thyroid nodule at the base of the neck.

  • Palpable cervical lymphadenopathy signifies disease that has progressed locally.

  • Abdominal pain, jaundice, and rarely, bone tenderness may occur in patients with systemic metastases.

  • Men2B may have a marfanoid habitus with mucosal neuromas

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Causes

Medullary carcinoma of the thyroid (MTC) has a genetic association with multiple endocrine neoplasia (MEN) 2A and 2B; however, it can also be inherited by a non-MEN mode of transmission. Sporadic MTC occurs in 75% of patients, and familial MTC constitutes the other 25%. Mutations in RET can lead to MTC development in cells derived from neural crest tissue situated in the thyroid gland.

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Physical Examination

See the list below:

  • Physical examination may demonstrate a dominant thyroid nodule at the base of the neck.

  • Palpable cervical lymphadenopathy signifies disease that has progressed locally.

  • Icterus, and rarely, bone tenderness may occur in patients with systemic metastases.

  • Men2B patients may have a marfanoid habitus with mucosal neuromas

  • Labile hypertension may be seen in those with an associated pheochromocytoma

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