BRAF mutation analysis of fine-needle aspiration biopsies of papillary thyroid carcinoma: Impact on diagnosis and prognosis

Agnes Colanta, Oscar Lin, Laura Tafe, Ronald Ghossein, Khedoudja Nafa, Talia Mitchell, Marc Ladanyi, Maria Arcila

Research output: Contribution to journalArticlepeer-review

36 Scopus citations

Abstract

Objective: The BRAF V600E mutation has been associated with aggressive disease in papillary thyroid carcinoma (PTC). Molecular testing has been proposed as a useful adjunct to cytology in the diagnosis of malignancy and for tailoring clinical management. The aims of our study were to evaluate the BRAF mutational status using archived fine-needle aspiration biopsy (FNAB) material from patients with long-term follow-up and to correlate it with the original cytology diagnosis, clinicopathological stage at surgery, and prognosis. Study Design: FNAB material from 52 cases of PTC, with a mean follow-up of 8.4 years, was used in this study. DNA was extracted from archival cytology slides. Mutation analysis was performed by standard sequencing and locked nucleic acid-PCR/sequencing. Results: The BRAF V600E mutation was present in 46% of cases, but it was absent in all FNABs diagnosed originally as atypical and in 14 of 17 suspicious cases. Recurrence was significantly more frequent (p = 0.006) in cases with BRAF mutations and 54% of these cases presented with stage 2 or higher. Conclusion: The BRAF V600E mutation is associated with a higher pathological stage at surgery and a higher rate of recurrence. BRAF mutation analysis did not provide a significant increase in the accuracy of thyroid FNABs diagnosed as suspicious or atypical in our institution.

Original languageEnglish (US)
Pages (from-to)563-569
Number of pages7
JournalActa cytologica
Volume55
Issue number6
DOIs
StatePublished - Dec 2011
Externally publishedYes

Keywords

  • BRAF
  • Papillary carcinoma
  • Prognosis
  • Thyroid

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology

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