Hurthle Cell Carcinoma Clinical Presentation

Updated: Jan 29, 2018
  • Author: Serhat Aytug, MD; Chief Editor: Neetu Radhakrishnan, MD  more...
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Presentation

History

The history in patients with a thyroid nodule or a known follicular or Hürthle cell neoplasm is neither sensitive nor specific for a diagnosis of malignancy. However, the following clinical features are more suggestive of malignancy:

  • A palpable mass in the thyroid (most common clinical sign)

  • Symptoms of pressure (eg, dysphagia, dyspnea, coughing, choking spells, hoarseness)

  • Rapid growth or significant compressive symptoms

  • Pain

Other features of Hürthle cell carcinoma are as follows:

  • Hürthle cell carcinoma is more often multifocal and bilateral

  • Lymph node metastasis and symptoms confined to metastatic sites can be the first clinical presentation in a subgroup of cases

  • A history of head and neck external beam irradiation should alert the clinician to a possible malignancy; multifocal and bilateral disease is more common in such cases

  • A family history of thyroid cancer and endocrinopathies can also be present

  • Patients are usually euthyroid, but hyperthyroidism or hypothyroidism occurs in a small percentage of patients

Other benign thyroid and parathyroid disorders can be observed, as follows:

  • Graves disease

  • Colloid nodular disease

  • Lymphocytic thyroiditis

  • Thyroid hyperplasia

  • Parathyroid adenoma

  • Follicular adenomas

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Physical

The most common physical examination finding is a palpable single neck mass. (However, the contralateral lobe may harbor impalpable malignancy in such cases.) Less often, patients may have multiple palpable masses. Other findings on physical examination may include the following:

  • Regional lymph nodes may sometimes be felt in the neck and locoregionally, although this is not as common as in papillary carcinoma

  • The trachea can be compressed and deviated secondary to the mass effect of the tumor

  • Hoarseness can occur if vocal cord involvement is present

  • Horner syndrome can be present in patients with involvement of the cervical sympathetic ganglia

  • If the tumor extends into the upper mediastinum behind the sternum, the superior mediastinal syndrome may ensue, with facial swelling, and dilated veins can be observed

  • A hard, fixed thyroid nodule, cervical lymphadenopathy, and vocal cord paralysis are features that may indicate carcinoma

  • Physical findings of metastases and pathologic bone fractures may also be found in long and flat bones

  • Most patients with Hürthle cell cancer and Hürthle cell adenomas are euthyroid, but in rare cases, signs of thyrotoxicosis may be present; either massive tumor burden or functioning metastatic disease causes thyrotoxicosis

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Causes

Etiologic factors in Hürthle cell carcinomas include the following:

  • Radiation to the neck

  • Iodide deficiency

  • Overexpression of the p53 oncogene

  • Activating mutations of genes encoding the thyrotropin receptor and the alpha subunit of the stimulatory of G protein are reported in some follicular carcinomas

  • Somatic mutations of genes important in growth control

  • Oncogene activation, particularly by mutation or translocation of the ras oncogene

  • Mitochondrion-related alterations (eg, mutations in mitochondrial DNA) also are described.

A study by Maximo et al linked somatic and germline mutation in GRIM-19 (a dual-function gene involved in mitochondrial metabolism and cell death) to Hürthle cell tumors of the thyroid. This is the first nuclear gene mutation described for a subgroup of Hürthle cell carcinomas. [17]

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