Papillary thyroid carcinoma with BRAFV600E mutation: sonographic prediction

AJR Am J Roentgenol. 2010 May;194(5):W425-30. doi: 10.2214/AJR.09.3512.

Abstract

Objective: The purpose of this article is to assess the clinical and sonographic findings that can predict the presence of the BRAF(V600E) mutation of a papillary thyroid carcinoma.

Materials and methods: The study included 135 consecutive patients with surgically confirmed papillary thyroid carcinoma. All patients underwent ultrasound and ultrasound-guided fine-needle aspiration. The BRAF(V600E) mutation was determined using allelespecific polymerase chain reaction and direct DNA sequencing from fine-needle aspiration samples. We retrospectively compared the clinical and ultrasound findings of nodules with and without the mutation, including size, margin, shape, calcifications, echogenicity, and ultrasound diagnosis.

Results: Of 135 patients, results were positive for the mutation for 106 patients (79%) and negative for 29 (21%). Among the patients with the BRAF(V600E) mutation, the ratio of men to women was 1:5.2 (p = 0.156), and the mean age was 47 years (range, 26-73 years; p = 0.326). The mean tumor size was 0.9 cm (range, 0.3-4.0 cm; p = 0.099). On ultrasound, papillary thyroid carcinomas with the BRAF(V600E) mutation tended to show a taller-than-wide shape, but this finding was not statistically significant (p = 0.055). The BRAF(V600E) mutation was not associated with the presence of calcifications (54% vs 71%; p = 0.032), although it was not an independent predictor. There were no significant differences in tumor echogenicity, tumor margin, and ultrasound diagnosis between the two groups.

Conclusion: Papillary thyroid carcinoma with the BRAF(V600E) mutation tends to be taller than wide and is not associated with the presence of calcifications on ultrasound. However, these findings are not specific enough to predict the presence or absence of the BRAF(V600E) mutation of a papillary thyroid carcinoma.

MeSH terms

  • Adult
  • Aged
  • Carcinoma, Papillary / diagnostic imaging*
  • Carcinoma, Papillary / epidemiology
  • Carcinoma, Papillary / genetics*
  • Female
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Incidence
  • Korea / epidemiology
  • Male
  • Middle Aged
  • Mutation
  • Proto-Oncogene Proteins B-raf / genetics*
  • Reproducibility of Results
  • Risk Assessment
  • Risk Factors
  • Sensitivity and Specificity
  • Thyroid Neoplasms / diagnostic imaging*
  • Thyroid Neoplasms / epidemiology
  • Thyroid Neoplasms / genetics*
  • Ultrasonography / statistics & numerical data*

Substances

  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf