Invited review—next-generation sequencing: a modern tool in cytopathology

Sinchita Roy-Chowdhuri, Pasquale Pisapia, Manuel Salto-Tellez, Spasenija Savic, Mariantonia Nacchio, Dario de Biase, Giovanni Tallini, Giancarlo Troncone*, Fernando Schmitt

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

16 Citations (Scopus)


In recent years, cytopathology has established itself as an independent diagnostic modality to guide clinical management in many different settings. The application of molecular techniques to cytological samples to identify prognostic and predictive biomarkers has played a crucial role in achieving this goal. While earlier studies have demonstrated that single biomarker testing is feasible on cytological samples, currently, this provides only limited and increasingly insufficient information in an era where an increasing number of biomarkers are required to guide patient care. More recently, multigene mutational assays, such as next-generation sequencing (NGS), have gained popularity because of their ability to provide genomic information on multiple genes. The cytopathologist plays a key role in ensuring success of NGS in cytological samples by influencing the pre-analytical steps, optimizing preparation types and adequacy requirement in terms of cellularity and tumor fraction, and ensuring optimal nucleic acid extraction for DNA input requirements. General principles of the role and potential of NGS in molecular cytopathology in the universal healthcare (UHC) European environment and examples of principal clinical applications were discussed in the workshop that took place at the 30th European Congress of Pathology in Bilbao, European Society of Pathology, whose content is here comprehensively described.

Original languageEnglish
Pages (from-to)3-11
Number of pages9
JournalVirchows Archiv
Early online date15 Mar 2019
Publication statusPublished - 01 Jul 2019

Bibliographical note

Publisher Copyright:
© 2019, Springer-Verlag GmbH Germany, part of Springer Nature.


  • Cell block
  • Direct smears
  • Fine-needle aspiration
  • Liquid-based cytology
  • Molecular cytopathology
  • Next-generation sequencing

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Biology
  • Cell Biology


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