A rapid and simple detection method for the BRAF(T1796A) mutation in fine-needle aspirated thyroid carcinoma cells

Thyroid. 2004 Nov;14(11):910-5. doi: 10.1089/thy.2004.14.910.

Abstract

Fine-needle aspiration biopsy (FNAB) samples from thyroid tumor tissues were analyzed for the presence of the BRAF(T1796A) mutation by polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) analysis. This assay utilized a specific mismatched primer and has proved to be a relatively simple, accurate, and highly sensitive method. The analysis of 130 aspirated samples from thyroid tumors (18 follicular adenomas, 72 papillary carcinomas [PTCs], 8 follicular carcinomas, 2 undifferentiated carcinomas, 1 medullary carcinoma, 2 malignant lymphomas, and 27 adenomatous goiters) revealed BRAF(T1796A) mutations in 37 (51.4%) of 72 PTCs, supporting the usefulness of this method. We examined BRAF(T1796A) in 21 patients with thyroid tumors using leftover cells in the needle at the preoperative FNAB. BRAF(T1796A) was detected in 4 patients, of which 3 cases were diagnosed as positive and 1 case as suspicious by cytologic examination. Furthermore, BRAF(T1796A) mutations were found to occur more often in tumors of 3 cm or larger in size. Our results indicate that the preoperative determination of the presence of a BRAF(T1796A) mutation by conventional PCR-RFLP may be potentially useful in the diagnosis of the most common thyroid malignancies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenine
  • Base Sequence
  • Biopsy, Fine-Needle*
  • Genetic Techniques*
  • Humans
  • Mutation*
  • Neoplasm Staging
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Proto-Oncogene Proteins B-raf / genetics*
  • Thymine
  • Thyroid Neoplasms / genetics*
  • Thyroid Neoplasms / pathology*

Substances

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