Thyroid nodules on chest CT of patients with tuberous sclerosis complex

Am J Med Genet A. 2015 Dec;167A(12):2992-7. doi: 10.1002/ajmg.a.37339. Epub 2015 Aug 29.

Abstract

A few cases of thyroid disease have been reported in tuberous sclerosis complex (TSC); however, studies on prevalence and characterization of lesions have not been done. Patients with TSC are routinely screened using chest CT for assessment of lung disease. Incidental thyroid findings on chest CT have been reported in large studies of the general population. The purpose of this study is to evaluate the frequency and type of thyroid anomalies in a cohort of TSC patients. We performed a retrospective review of 93 patients with a definite diagnosis of TSC, who had a chest CT. Images of the thyroid gland and final radiological report were reviewed. Reports of additional thyroid studies performed in some patients were also reviewed. Thyroid abnormalities were present in 19 of 93 (20.4%) patients. They consisted mainly of hypodense lesions categorized as nodules. Multiple nodules were found in 10 patients (52.6%). There was one papillary carcinoma. Thyroid gland lesions may be part of the clinical spectrum of TSC. They are usually asymptomatic. As some cases of thyroid carcinoma have been described in TSC, ultrasound exams are recommended, given that CT is not the gold standard technique for thyroid evaluation.

Keywords: TSC; computed tomography; endocrine; incidentaloma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Carcinoma / diagnosis
  • Carcinoma / diagnostic imaging
  • Carcinoma / pathology
  • Carcinoma, Papillary
  • Child
  • Female
  • Humans
  • Incidental Findings
  • Male
  • Middle Aged
  • Retrospective Studies
  • Thyroid Cancer, Papillary
  • Thyroid Neoplasms / diagnosis
  • Thyroid Neoplasms / diagnostic imaging
  • Thyroid Neoplasms / pathology
  • Thyroid Nodule / diagnostic imaging
  • Thyroid Nodule / pathology*
  • Tomography, X-Ray Computed / methods*
  • Tuberous Sclerosis / diagnostic imaging*
  • Tuberous Sclerosis / genetics*
  • Tuberous Sclerosis / pathology
  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins / genetics
  • Young Adult

Substances

  • Tuberous Sclerosis Complex 1 Protein
  • Tuberous Sclerosis Complex 2 Protein
  • Tumor Suppressor Proteins