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

التفاصيل البيبلوغرافية
العنوان: Invited review—next-generation sequencing: a modern tool in cytopathology
المؤلفون: Spasenija Savic, Giancarlo Troncone, Dario de Biase, Sinchita Roy-Chowdhuri, Mariantonia Nacchio, Pasquale Pisapia, Fernando Schmitt, Giovanni Tallini, Manuel Salto-Tellez
المساهمون: Roy-Chowdhuri, S., Pisapia, P., Salto-Tellez, M., Savic, Nikola, Nacchio, M., de Biase, D., Tallini, G., Troncone, G., Schmitt, F., Roy-Chowdhuri S., Pisapia P., Salto-Tellez M., Savic S., Nacchio M., de Biase D., Tallini G., Troncone G., Schmitt F.
المصدر: Virchows Archiv. 475:3-11
بيانات النشر: Springer Science and Business Media LLC, 2019.
سنة النشر: 2019
مصطلحات موضوعية: Genetic Markers, 0301 basic medicine, Computer science, Molecular cytopathology, Reproducibility of Result, Predictive Value of Test, Computational biology, DNA sequencing, Patient care, Specimen Handling, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, Predictive Value of Tests, Liquid-based cytology, Humans, Genetic Predisposition to Disease, Pathology, Molecular, Precision Medicine, Molecular Biology, Cell block, Predictive biomarker, Fine-needle aspiration, Direct smear, Gene Expression Profiling, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Cell Biology, General Medicine, Congresses as Topic, Precision medicine, Phenotype, 030104 developmental biology, Cytopathology, 030220 oncology & carcinogenesis, Next-generation sequencing, Genomic information, Transcriptome, Human
الوصف: 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.
وصف الملف: STAMPA
تدمد: 1432-2307
0945-6317
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54cc2d34e631bf205f635fba254c2c3eTest
https://doi.org/10.1007/s00428-019-02559-zTest
حقوق: CLOSED
رقم الانضمام: edsair.doi.dedup.....54cc2d34e631bf205f635fba254c2c3e
قاعدة البيانات: OpenAIRE