Robust gene expression and mutation analyses of RNA-sequencing of formalin-fixed diagnostic tumor samples

Sci Rep. 2015 Jul 23:5:12335. doi: 10.1038/srep12335.

Abstract

Current genomic studies are limited by the availability of fresh tissue samples. Here, we show that Illumina RNA sequencing of formalin-fixed diagnostic tumor samples produces gene expression that is strongly correlated with matched frozen tumor samples (r > 0.89). In addition, sequence variations identified from FFPE RNA show 99.67% concordance with that from exome sequencing of matched frozen tumor samples. Because FFPE is a routine diagnostic sample preparation, the feasibility results reported here will facilitate the setup of large-scale research and clinical studies in medical genomics that are currently limited by the availability of fresh frozen samples.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Base Sequence
  • DNA Mutational Analysis / methods*
  • Female
  • Fixatives / chemistry
  • Formaldehyde / chemistry
  • Gene Expression Profiling / methods*
  • Genes, Neoplasm / genetics*
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Molecular Sequence Data
  • Mutation / genetics
  • Ovarian Neoplasms / diagnosis
  • Ovarian Neoplasms / genetics*
  • RNA, Neoplasm / genetics*
  • Reproducibility of Results
  • Sensitivity and Specificity
  • Sequence Analysis, RNA / methods*
  • Tissue Preservation / methods

Substances

  • Fixatives
  • RNA, Neoplasm
  • Formaldehyde