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  • Title: [Fine-needle aspiration cytology of thyroid nodules: molecular diagnostics in a routine diagnostic setting].
    Author: Eszlinger M, Neustadt M, Ruschenburg I, Neumann A, Franzius C, Adam S, Bacher K, Hach A, Hammoser R, Langvogt C, Molwitz T, Paschke R.
    Journal: Dtsch Med Wochenschr; 2014 Mar; 139(10):476-80. PubMed ID: 24570192.
    Abstract:
    BACKGROUND AND OBJECTIVE: Results for the detection of point mutations and rearrangements have thus far been obtained by fresh material of fine needle aspiration cytology (FNAC). After a first retrospective study we report on the diagnostic detection in routinely obtained, consecutive air-dried FNAC smears. METHODS: RNA and DNA was extracted from 154 consecutive routine air-dried FNAC smears: 80 with microfollicular proliferation (MFP), 45 with follicular neoplasia (FN), 26 with the cytological diagnosis of papillary carcinomas (PTC) and 3 which were suspicious for malignancy. PAX8/PPARG and RET/PTC3 rearrangements were detected by qPCR, while BRAF and RAS point mutations were detected by pyrosequencing. RESULTS: Only 0.7 % and 5.3 % of the routine air-dried FNAC samples did not allow analysis of a point mutation or rearrangements, respectively. NRAS mutations could be detected in 7 MFP smears, and in one of FN and PTC samples, respectively. HRAS mutations were detected in one MPF and one FN sample. A KRAS mutation was only detected in one FN sample, whereas BRAF mutations were detected in 20 samples with PTC (but in no other sample). PAX8/PPARG was detected in 2 MFP samples, while RET/PTC was detected in only one MFP sample. In total, 13.8 % MFP-FNAC, 6.7 % FN-FNAC, and 80.8 % PTC-FNAC samples harbored a mutation. CONCLUSION: These results demonstrate that rearrangements and point mutations can be detected in routinely obtained air-dried FNAC samples.
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