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PubMed | University of Leipzig, Radiologie Hoheluft, Amedes Medizinisches Versorgungszentrum For Laboratoriumsmedizin, Schilddrusenpraxis Kantstrasse and 6 more.
Type: Journal Article | Journal: Deutsche medizinische Wochenschrift (1946) | Year: 2014

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.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.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.These results demonstrate that rearrangements and point mutations can be detected in routinely obtained air-dried FNAC samples.

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