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 TronconeEmail author
  • Fernando Schmitt
Review and Perspectives


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.


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


Author contribution

Sinchita Roy-Chowdhuri, Manuel Salto-Tellez, Spasenija Savic, Giovanni Tallini, Giancarlo Troncone, and Fernando Schmitt conceived the review; Sinchita Roy-Chowdhuri, Pasquale Pisapi, Manuel Salto-Tellez, Spasenija Savic, Mariantonia Nacchio, Dario de Biase, Giovanni Tallini, Giancarlo Troncone, and Fernando Schmitt wrote the manuscript and approved the final version.

Compliance with ethical standards

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. For this review, formal consent is not required.

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  • Sinchita Roy-Chowdhuri
    • 1
  • Pasquale Pisapia
    • 2
  • Manuel Salto-Tellez
    • 3
  • Spasenija Savic
    • 4
  • Mariantonia Nacchio
    • 2
  • Dario de Biase
    • 5
  • Giovanni Tallini
    • 6
  • Giancarlo Troncone
    • 2
    Email author
  • Fernando Schmitt
    • 7
    • 8
  1. 1.Department of PathologyThe University of Texas MD Anderson Cancer CenterHoustonUSA
  2. 2.Department of Public HealthUniversity of Naples Federico IINaplesItaly
  3. 3.Northern Ireland Molecular Pathology Laboratory, Centre for Cancer Research and Cell BiologyQueen’s University BelfastBelfastUK
  4. 4.Institute of PathologyUniversity Hospital BaselBaselSwitzerland
  5. 5.Department of Pharmacy and BiotechnologyUniversity of BolognaBolognaItaly
  6. 6.Anatomic PathologyUniversity of Bologna Medical CenterBolognaItaly
  7. 7.Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)PortoPortugal
  8. 8.Department of PathologyMedical Faculty of Porto UniversityPortoPortugal

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