Fine-Needle Aspiration (FNAB) Molecular Analysis for the Diagnosis of Papillary Thyroid Carcinoma through BRAFv600E mutation and RET/PTC rearrangement

Marco Calogero Amato, Vito Rodolico, Carla Giordano, Daniela Cabibi, Roberto Citarrella, Giuseppe Pizzolanti, Aldo Galluzzo, Gaspare Gulotta, Mario Latteri, Carla Giordano, Renato Lo Coco, Francesco Frasca, Alessandra Bommarito, Lucia Smeraldi, Miriam Nucera, Pasqua Sandra Sisto, Vincenzo Bronte

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78 Citations (Scopus)

Abstract

Objective: To evaluate BRAFV600E mutation on consecutive fine-needle aspiration biopsy (FNAB) specimens in order to assess FNAB’s usefulness in preoperative papillary thyroid carcinoma (PTC) diagnosis with the contemporaneousanalysis of RET=PTC1 and RET=PTC3 rearrangements obtained from ex vivo thyroid nodules.Design: Thyroid FNABs from 156 subjects with nodules and 49 corresponding surgical samples were examinedfor the presence of BRAF mutation by real-time allele-specific polymerase chain reaction, confirmed with the use of a laser pressure catapulting system. Samples were also examined for RET=PTC rearrangements. The resultswere compared with the cytological diagnosis and histopathology. Main outcomes: 13=156 cytological examinations were diagnostic for PTC and 19=156 showed suspicious=indeterminate FNAB (12.2%). FNAB-BRAFV600Emutation was detected in 11=16 (69%) cases with histological confirmation of PTC. In our series, RET=PTCrearrangement was detected in only one case of PTC, whereas it was not present in any case of adenoma, goiter, or Hashimoto’s thyroiditis. No PTC case was found positive at the same time for BRAF mutation and RET=PTC rearrangements. Conclusion: BRAFV600E mutation detected on FNAB specimens, more than RET=PTC rearrangerangements, is highly specific for PTC and its routine research might well be an adjunctive and integrative diagnostic tool for the preoperative diagnostic iter.
Original languageEnglish
Pages (from-to)1109-1115
Number of pages7
JournalThyroid
Volume17
Publication statusPublished - 2007

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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