Molecular Cytopathology

Abstract

In conjunction with our understanding of the disease, the role of pathologists has evolved from a pure morphologic assessment to a more active participation in triaging specimens for a host of ancillary studies and incorporating these results into the pathology report in order to refine diagnoses and/or guide therapeutic decisions. As molecular characterization of different types of cancer becomes standard of care, pathologists will continue to play a pivotal role in early diagnosis, monitoring of tumor response, and disease progression of cancer patients. The powerful combination of advanced molecular diagnostics and the minimally invasive nature of cytology specimens that define molecular cytopathology, amplifies our ability to do more with less and propels this new field to the forefront of personalized medicine. Given that many patients present with advanced-stage cancers in whom the diagnosis is made only based on cytology, optimizing and validating cytology specimens for molecular testing is critical. We review in this chapter, the range of cytology specimens and the different ways in which they can be utilized for various molecular tests.