Abstract
The rapid integration of molecular diagnostic assays into pathology has revolutionized the practice of diagnostic cytopathology by providing a genomic dimension to morphologic diagnoses while providing predictive, prognostic, and therapeutic information for patient care. The versatility of cytology specimen preparations provides a variety of options for performing molecular assays, as long as the pre-analytic aspects of specimen processing and handling are optimized and the tests are appropriately validated. With the increasing use of liquid biopsy assays, several investigators are exploring molecular testing using tumor-derived cell-free DNA (cfDNA) in cytology samples. In addition, cytopathologists are discovering ways to better utilize cytology specimens by repurposing previously discarded samples to provide additional genomic information in cases that would otherwise warrant an additional biopsy. These novel applications of molecular assays in cytology have expanded the role of cytopathology in routine patient care. Cytopathologists will need to continue to evolve with the changing landscape of molecular medicine, to adopt and optimize new technology, and to integrate molecular methods into routine cytopathology practice.
| Original language | English (US) |
|---|---|
| Title of host publication | Molecular Diagnostics in Cytopathology |
| Subtitle of host publication | A Practical Handbook for the Practicing Pathologist |
| Publisher | Springer International Publishing |
| Pages | 517-528 |
| Number of pages | 12 |
| ISBN (Electronic) | 9783319973975 |
| ISBN (Print) | 9783319973968 |
| DOIs | |
| State | Published - Jan 1 2018 |
Keywords
- Cell-free DNA
- Droplet digital PCR
- Mutation analysis
- Needle rinse
- Next-generation sequencing
- Residual liquid-based cytology
- Supernatant
ASJC Scopus subject areas
- General Medicine