How to Prepare Cytological Samples for Molecular Testing

  • Claudio Bellevicine
  • Umberto Malapelle
  • Elena Vigliar
  • Pasquale Pisapia
  • Carlo Ruosi
  • Giancarlo TronconeEmail author


This chapter is focused on the challenges in standardizing and optimizing molecular testing workflow in cytopathology. Although cytological samples yield optimal quality DNA, whose minimal amounts in most cases suffice even for multigene mutational profiling, the success of molecular testing is strongly dependent on standardized pre-analytical protocols for maximizing DNA yield and quality. Sample cytopreparation influences, even more, the quality of RNA and consequently the potential success of reverse transcription-polymerase chain reaction (RT-PCR). Here, the educational and technical involvement of the cytopathologist in the issues related to test request, specimen collection, fixation, processing, staining, tumour fraction enrichment, DNA quality/quantity assessment and storage conditions are discussed. In addition, the specific sample requirements related to more recent technological developments are examined, underlining the modern role of the cytopathologist, whose continuous education is crucial to meet the opportunities of molecular medicine.


Personalized medicine Cancer Cytopathology Fine-needle aspiration Molecular cytopathology Polymerase chain reaction Next-generation sequencing Mutational analysis Pre-analytic Direct smear Cell block 


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Claudio Bellevicine
    • 1
  • Umberto Malapelle
    • 1
  • Elena Vigliar
    • 1
  • Pasquale Pisapia
    • 1
  • Carlo Ruosi
    • 1
  • Giancarlo Troncone
    • 1
    Email author
  1. 1.Department of Public HealthUniversity of Napoli Federico II, School of MedicineNaplesItaly

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