Molecular Cytology Applications in Metastases

  • Francisco Beca
  • Fernando C. SchmittEmail author


Metastatic disease is the main cause of death by cancer. Metastases are frequently diagnosed using cytology specimens, either using fine-needle aspiration (FNA) or effusion specimens. Over the last couple of decades, several molecular techniques have been successfully applied to cytological specimens. In situ hybridization and sequencing can nowadays be routinely performed in cytological specimens, and the application of these techniques in the metastatic cancer setting has the potential to change the landscape of patient care with advanced cancer. Additionally, as concepts like tumor clonal evolution are being translated to clinical trials and clinical care, the role and potential applications of molecular cytology are exponentially growing. Cytology, coupled with molecular techniques, has the potential to be the main source of specimens for longitudinal tracking of tumor metastasis and therefore have a central role in upcoming biomarker evaluation. In this chapter, we will review some the contemporary challenges that metastatic disease presents and how molecular cytology can help overcoming many of these, to ultimately improve patient diagnosis and care.


Metastasis Tumor heterogeneity Tumor evolution Clonal composition Next-generation sequencing Biomarkers 


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of PathologyStanford University School of MedicineStanfordUSA
  2. 2.Department of PathologyMedical Faculty of Porto UniversityPortoPortugal
  3. 3.I3S, Instituto de Investigação e Inovação em Saúde, Universidade do PortoPortoPortugal
  4. 4.IPATIMUP, Institute of Molecular Pathology and Immunology of Porto UniversityPortoPortugal

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