TY - JOUR
T1 - Invited review—next-generation sequencing
T2 - a modern tool in cytopathology
AU - Roy-Chowdhuri, Sinchita
AU - Pisapia, Pasquale
AU - Salto-Tellez, Manuel
AU - Savic, Spasenija
AU - Nacchio, Mariantonia
AU - de Biase, Dario
AU - Tallini, Giovanni
AU - Troncone, Giancarlo
AU - Schmitt, Fernando
N1 - Publisher Copyright:
© 2019, Springer-Verlag GmbH Germany, part of Springer Nature.
PY - 2019/7/1
Y1 - 2019/7/1
N2 - 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.
AB - 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.
KW - Cell block
KW - Direct smears
KW - Fine-needle aspiration
KW - Liquid-based cytology
KW - Molecular cytopathology
KW - Next-generation sequencing
UR - http://www.scopus.com/inward/record.url?scp=85063054737&partnerID=8YFLogxK
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U2 - 10.1007/s00428-019-02559-z
DO - 10.1007/s00428-019-02559-z
M3 - Review article
C2 - 30877381
AN - SCOPUS:85063054737
SN - 0945-6317
VL - 475
SP - 3
EP - 11
JO - Virchows Archiv
JF - Virchows Archiv
IS - 1
ER -