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Dtsch Med Wochenschr. 2014 Mar;139(10):476-80. doi: 10.1055/s-0034-1369883. Epub 2014 Feb 25.

[Fine-needle aspiration cytology of thyroid nodules: molecular diagnostics in a routine diagnostic setting].

[Article in German]

Author information

1
Klinik für Endokrinologie und Nephrologie, Universität Leipzig.
2
MVZ wagnerstibbe für Gynäkologie, Reproduktionsmedizin, Zytologie, Pathologie u. Innere Medizin GmbH, Einbeck.
3
Amedes Medizinisches Versorgungszentrum für Laboratoriumsmedizin, Mikrobiologie u. Genetik GmbH, Hannover.
4
Zentrum für Nuklearmedizin und PET/CT, Bremen.
5
Radiologie Hoheluft, Nuklearmedizin, Hamburg.
6
Praxis Endokrinologie und Diabetologie im Zentrum, Stuttgart.
7
Institut für Radiologie und Nuklearmedizin Bremerhaven, Bremerhaven.
8
Schilddrüsenpraxis Kantstraße, Berlin.
9
Praxis für Nuklearmedizin und PET/CT-Zentrum in der Deutschen Klinik für Diagnostik, Wiesbaden.
10
Klinik Dr. Hancken, Stade.

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.

PMID:
24570192
DOI:
10.1055/s-0034-1369883
[Indexed for MEDLINE]
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