Precision cytopathology: expanding opportunities for biomarker testing in cytopathology

J Am Soc Cytopathol. 2019 Mar-Apr;8(2):95-115. doi: 10.1016/j.jasc.2018.12.003. Epub 2018 Dec 24.

Abstract

Precision cytopathology refers to therapeutically linked biomarker testing in cytopatology, a dynamically growing area of the discipline. This review describes basic steps to expand precision cytopathology services. Focusing exclusively on solid tumors, the review is divided into four sections: Section 1: Overview of precision pathology- opportunities and challenges; Section 2: Basic steps in establishing or expanding a precision cytopathology laboratory; Section 3: Cytopathology specimens suitable for next generation sequencing platforms; and Section 4: Summary. precision cytopathology continues to rapidly evolve in parallel with expanding targeted therapy options. Biomarker assays (companion diagnostics) comprise a multitude of test types including immunohistochemistry, in situ hybridization and molecular genetic tests such as PCR and next generation sequencing all of which are performable on cytology specimens. Best practices for precision cytopathology will incorporate traditional diagnostic approaches allied with careful specimen triage to enable successful biomarker analysis. Beyond triaging, cytopathologists knowledgeable about molecular test options and capabilities have the opportunity to refine diagnoses, prognoses and predictive information thereby assuming a lead role in precision oncology biomarker testing.

Keywords: Biomarkers in cytopathology; Cell blocks; Companion diagnostics and cytopathology; Cytopathology; Molecular genetic testing; Nucleic acid testing; Precision cytopathology; Precision oncology; Precision pathology; ROSE; Review.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor
  • Cytological Techniques / methods
  • Humans
  • Laboratories / standards
  • Laboratory Personnel / education
  • Molecular Targeted Therapy / methods
  • Neoplasms / diagnosis*
  • Neoplasms / pathology*
  • Pathologists / education
  • Precision Medicine / methods*
  • Sequence Analysis / methods

Substances

  • Biomarkers, Tumor