Preoperative BRAFV600E mutation detection in thyroid carcinoma by immunocytochemistry

Kristine Zøylner Swan*, Stine Horskaer Madsen, Steen Joop Bonnema, Viveque Egsgaard Nielsen, Marie Louise Jespersen

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

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Abstract

The BRAFV600E (BRAF) mutation is present in 40-50% of papillary thyroid carcinomas (PTC) and has been associated with more aggressive clinicopathological characteristics of PTC. The aim of this study was to evaluate different methods for preoperative identification of the BRAF mutation in PTC using cytological and histological specimens. Prospectively collected preoperative cytological clots from patients with suspected PTC were tested with BRAF immunocytochemistry (ICC) and the Cobas Test (PCR). In addition, histological specimens were tested with BRAF immunohistochemistry (IHC) and the Cobas Test. All nodules were histologically examined. Fifty-three patients were included in the study. Complete mutation testing was available in 32 patients. The main reason for exclusion was insufficient cell content in the cytological specimen. Twenty-seven nodules were histologically diagnosed as PTC, and 41% (n = 11) of PTCs were BRAF ICC positive. All non-PTC nodules were negative by BRAF ICC. In 26 nodules, all four BRAF tests were concordant, while discordant test results were found in six nodules. ICC was in accordance with the consensus BRAF status in five of these nodules, while BRAF status was undetermined in one nodule. BRAF ICC showed high concordance with the Cobas Test and a low rate of false negative stain. These results indicate that BRAF ICC may be a feasible method for preoperative detection of the BRAFV600E mutation in patients with PTC.

Original languageEnglish
JournalAPMIS
Volume130
Issue number11
Pages (from-to)627-636
ISSN0903-4641
DOIs
Publication statusPublished - Nov 2022

Keywords

  • BRAF
  • Thyroid
  • diagnosis
  • immunocytochemistry
  • thyroid carcinoma
  • Immunohistochemistry
  • Thyroid Cancer, Papillary/diagnosis
  • Thyroid Neoplasms/diagnosis
  • Humans
  • Proto-Oncogene Proteins B-raf/genetics
  • Mutation
  • DNA Mutational Analysis/methods

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