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

Authors :
Roy-Chowdhuri, Sinchita
Pisapia, Pasquale
Salto-Tellez, Manuel
Savic, Spasenija
Nacchio, Mariantonia
de Biase, Dario
Tallini, Giovanni
Troncone, Giancarlo
Schmitt, Fernando
Source :
Virchows Archiv: European Journal of Pathology; Jul2019, Vol. 475 Issue 1, p3-11, 9p
Publication Year :
2019

Abstract

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
09456317
Volume :
475
Issue :
1
Database :
Complementary Index
Journal :
Virchows Archiv: European Journal of Pathology
Publication Type :
Academic Journal
Accession number :
137339388
Full Text :
https://doi.org/10.1007/s00428-019-02559-z