ECE2006 Poster Presentations Thyroid (174 abstracts)
Usefulness of molecular analysis of BRAF mutation and RET/PTC rearrangements in fine needle aspiration (FNA) of thyroid nodules with nondiagnostic cytology
C Romei 1 , T Rago 1 , M Scutari 1 , V Bottici 1 , G Di Coscio 2 , F Basolo 2 , P Berti 3 , A Pinchera 1 , P Vitti 1 & R Elisei 1
1Department of Endocrinology and metabolism, Pisa, Italy; 2Department of Oncology, Pisa, Italy; 3Department of Surgery, Pisa, Italy.
About 10–15% of FNA cytologies are nondiagnostic, because of inadequate material or indeterminate (i.e. follicular neoplasms). Aim of this study was to analyse the practical usefulness of the analysis of BRAF mutations and RET/PTC rearrangements, known to be associated to papillary thyroid carcinoma (PTC), in FNA-material.
We analysed 100 thyroid nodules with a nondiagnostic cytology: 75 follicular nodules and 25 cases with inadequate material. Fifteen cases with a cytological diagnosis of PTC were used as controls. Thyroid aspirates were used for cytology and the needle was then washed in the solution for the extraction of RNA. A housekeeping gene (GAPDH) and a thyroid specific gene (PAX-8) were amplified by RT-PCR to assess the follicular origin of the RNA. BRAF V600E mutation was analysed by direct sequence analysis of PCR products. RET/PTC rearrangements were analysed by RT-PCR using specific primers and southern blot analysis with specific oligoprobes.
In 17/100 (17%) nodules with nondiagnostic cytology, we found BRAF mutation, TRK and/or RET/PTC rearrangements. In particular, 7 BRAF mutations, 6 RET/PTC3 and 3 RET/PTC1 rearrangements and 1 TRK rearrangement were revealed. In 1 of these cases both BRAF mutation and RET/PTC3 rearrangement were present. The histology revealed 33/100 (33%) PTC, 11 of whom were positive for BRAF (n=6) mutation, RET/PTC rearrangements (n=4), both BRAF mutation and RET/PTC rearrangement (n=1) and TRK rearrangement (n=1). Four benign thyroid nodules (4/67, 5.9%) were positive for RET/PTC rearrangements (3 RET/PTC3, 1 RET/PTC1). No BRAF mutations were found in benign nodules. In agreement with the literature, we also found 8/15 (53.3%) PTC harboured a BRAF mutation [6/15 (40%)] or RET/PTC1 [3/15 (20%)] rearrangement.
Our data confirm that the molecular analysis of BRAF mutation and RET/PTC rearrangements in fine needle aspirates is feasible and may be useful in improving the presurgical diagnosis in those cases with a nondiagnostic cytology.
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ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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