Molecular Tests Use in Cytological Material (Analytical Phase)

  • Zsofia BaloghEmail author
  • Philippe Vielh


In the era of precision medicine, the (cyto)pathologist has a pivotal role in the management of cancer patients. Molecular techniques and genomic applications are rapidly penetrating the daily practice as the list of actionable genetic alterations in solid and hematologic malignancies continues to expand, and pathologists are in charge of selecting appropriate areas for performing these techniques. This chapter provides a comprehensive resource of genomic applications and encompasses a review of the scientific principles underlying current and emerging technologies from real-time polymerase chain reaction, fluorescent or chromogenic in situ hybridization, and classical DNA and RNA sequencing methods to high-throughput next-generation sequencing approaches and other molecular techniques, such as comparative genomic hybridization, single-nucleotide polymorphism arrays, and NanoString method. In this fast-evolving field, the (cyto)pathologist’s central involvement is essential for the proper implementation of molecular tools, and they should know the basic principles, main applications, and pitfalls of molecular methods in order to use them appropriately.


Genome instability Drug resistance Precision medicine Cancer evolution Intra-tumor heterogeneity In situ single-cell analysis Quantitative real-time polymerase chain reaction Fluorescent in situ hybridization Chromogenic in situ hybridization Next-generation sequencing Comparative genome hybridization Single-nucleotide polymorphism NanoString Emulsion PCR Droplet digital PCR 


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Gustave RoussyVillejuifFrance
  2. 2.Laboratoire National de SantéDudelangeLuxembourg

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