Massively parallel DNA sequencing from routinely processed cytological smears

Cancer Cytopathol. 2016 Apr;124(4):241-53. doi: 10.1002/cncy.21639. Epub 2015 Oct 27.

Abstract

Background: Data generated by next-generation sequencing technologies have a pivotal role in precision medicine. These high-throughput techniques are preferentially performed on fresh tissue, but there is an increasing need for protocols adapted to materials derived from formalin-fixed, paraffin-embedded tissue and cytology specimens.

Methods: The aim of this work was to show that cytological material collected from archival smears processed for routine diagnoses could be used for massively parallel sequencing and array-based genomic analysis for further studies.

Results: As a proof of concept, data obtained from May-Grünwald Giemsa- and Diff-Quik-stained archival smears were shown to be in keeping with those obtained from matched frozen controls.

Conclusions: The quality of DNA extracted from routinely processed smears is compatible with the multitargeted sequencing of a large series of genes of interest with methods such as array-based genomic analysis and whole-exome sequencing.

Keywords: cytological smear; macrodissection; next-generation sequencing; precision medicine; single-nucleotide polymorphism array; whole-exome sequencing.

Publication types

  • Validation Study

MeSH terms

  • Cohort Studies
  • Cytodiagnosis / methods
  • DNA, Neoplasm / genetics*
  • Diagnostic Tests, Routine
  • Humans
  • Neoplasms / genetics*
  • Neoplasms / pathology
  • Oligonucleotide Array Sequence Analysis / methods*
  • Paraffin Embedding
  • Polymerase Chain Reaction / methods
  • Polymorphism, Single Nucleotide / genetics*
  • Precision Medicine*
  • Retrospective Studies
  • Sensitivity and Specificity
  • Sequence Analysis, DNA / methods*

Substances

  • DNA, Neoplasm