The BRAF(V600E) mutation is associated with malignant ultrasonographic features in thyroid nodules

Clin Endocrinol (Oxf). 2011 Dec;75(6):844-50. doi: 10.1111/j.1365-2265.2011.04154.x.

Abstract

Context: Several ultrasonographic (US) features of thyroid nodules have been reported to predict malignancy. The BRAF(V600E) mutation is a useful diagnostic marker for differentiating papillary thyroid carcinoma from benign thyroid nodules, especially in BRAF(V600E) -prevalent populations such as in Korea.

Objective: To evaluate the association of BRAF(V600E) mutation with US features of thyroid nodules in predicting the malignancy of thyroid nodules in Korean patients.

Design: A total of 991 thyroid nodules from 823 patients in fine-needle aspiration biopsy (FNAB) specimens were investigated. The relationship between US features and the presence of BRAF(V600E) mutation by pyrosequencing method was prospectively analysed.

Results: The BRAF(V600E) mutation was associated with the following US features: solid composition [odds ratio (OR) 20·338; 95% confidence interval (CI): 4·952-83·532; P < 0·001], marked hypoechogenicity (OR 30·744; 95% CI: 15·951-59·255; P < 0·001), irregular margin (OR 9·889; 95% CI: 7·005-13·859; P < 0·001), taller-than-wide shape (OR 6·031; 95% CI: 4·343-8·376; P < 0·001) and the presence of microcalcifications (OR 6·664; 95% CI: 4·604-9·648; P < 0·001). The BRAF(V600E) mutation with malignant US features in FNAB enhanced the diagnostic accuracy compared with cytologic diagnosis alone (94·3%vs 69·7%).

Conclusion: The BRAF(V600E) mutation is significantly associated with malignant US features, such as solid composition, marked hypoechogenicity, irregular margin, taller-than-wide shape and the presence of microcalcifications. The application of BRAF(V600E) mutation analysis in US-guided FNAB can improve the diagnostic accuracy of thyroid nodules.

Publication types

  • Clinical Trial

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Amino Acid Substitution / genetics
  • Biopsy, Fine-Needle
  • Carcinoma
  • Carcinoma, Papillary
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Female
  • Genetic Predisposition to Disease
  • Glutamic Acid / genetics
  • Humans
  • Male
  • Middle Aged
  • Mutation* / physiology
  • Proto-Oncogene Proteins B-raf / genetics*
  • Sensitivity and Specificity
  • Thyroid Cancer, Papillary
  • Thyroid Neoplasms / diagnostic imaging*
  • Thyroid Neoplasms / genetics
  • Thyroid Neoplasms / pathology
  • Thyroid Nodule / diagnostic imaging*
  • Thyroid Nodule / genetics
  • Thyroid Nodule / pathology
  • Ultrasonography
  • Valine / genetics
  • Young Adult

Substances

  • Glutamic Acid
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf
  • Valine