title: [Fine-needle aspiration cytology of thyroid nodules: molecular diagnostics in a routine diagnostic setting].
abstract: 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.
  
  
  CONCLUSIONS
  These results demonstrate that rearrangements and point mutations can be detected in routinely obtained air-dried FNAC samples.
authors.affiliation: Klinik für Endokrinologie und Nephrologie, Universität Leipzig.
authors.forename: M
authors.initials: M
authors.lastname: Eszlinger
authors.affiliation: Klinik für Endokrinologie und Nephrologie, Universität Leipzig.
authors.forename: M
authors.initials: M
authors.lastname: Neustadt
authors.affiliation: MVZ wagnerstibbe für Gynäkologie, Reproduktionsmedizin, Zytologie, Pathologie u. Innere Medizin GmbH, Einbeck.
authors.forename: I
authors.initials: I
authors.lastname: Ruschenburg
authors.affiliation: Amedes Medizinisches Versorgungszentrum für Laboratoriumsmedizin, Mikrobiologie u. Genetik GmbH, Hannover.
authors.forename: A
authors.initials: A
authors.lastname: Neumann
authors.affiliation: Zentrum für Nuklearmedizin und PET/CT, Bremen.
authors.forename: C
authors.initials: C
authors.lastname: Franzius
authors.affiliation: Radiologie Hoheluft, Nuklearmedizin, Hamburg.
authors.forename: S
authors.initials: S
authors.lastname: Adam
authors.affiliation: Praxis Endokrinologie und Diabetologie im Zentrum, Stuttgart.
authors.forename: K
authors.initials: K
authors.lastname: Bacher
authors.affiliation: Institut für Radiologie und Nuklearmedizin Bremerhaven, Bremerhaven.
authors.forename: A
authors.initials: A
authors.lastname: Hach
authors.affiliation: Schilddrüsenpraxis Kantstraße, Berlin.
authors.forename: R
authors.initials: R
authors.lastname: Hammoser
authors.affiliation: Praxis für Nuklearmedizin und PET/CT-Zentrum in der Deutschen Klinik für Diagnostik, Wiesbaden.
authors.forename: C
authors.initials: C
authors.lastname: Langvogt
authors.affiliation: Klinik Dr. Hancken, Stade.
authors.forename: T
authors.initials: T
authors.lastname: Molwitz
authors.affiliation: Klinik für Endokrinologie und Nephrologie, Universität Leipzig.
authors.forename: R
authors.initials: R
authors.lastname: Paschke
mesh_terms: D018263:Adenocarcinoma, Follicular / Q000235:genetics / Q000473:pathology / Q000601:surgery; D000231:Adenocarcinoma, Papillary / Q000235:genetics / Q000473:pathology / Q000601:surgery; D044963:Biopsy, Fine-Needle; D002471:Cell Transformation, Neoplastic / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D015321:Gene Rearrangement / Q000235:genetics; D006801:Humans; D025202:Molecular Diagnostic Techniques; D017354:Point Mutation / Q000235:genetics; D011237:Predictive Value of Tests; D011446:Prospective Studies; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D012189:Retrospective Studies; D013961:Thyroid Gland / Q000473:pathology*; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D016606:Thyroid Nodule / Q000235:genetics* / Q000473:pathology* / Q000601:surgery
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf