Flexible lab-tailored cut-offs for suitability of formalin-fixed tumor samples for diagnostic mutational analyses

PLoS One. 2015 Apr 6;10(4):e0121815. doi: 10.1371/journal.pone.0121815. eCollection 2015.

Abstract

The selection of proper tissues from formalin-fixed and paraffin-embedded tumors before diagnostic molecular testing is responsibility of the pathologist and represents a crucial step to produce reliable test results. The international guidelines suggest two cut-offs, one for the percentage and one for the number of tumor cells, in order to enrich the tumor content before DNA extraction. The aim of the present work was two-fold: to evaluate to what extent a low percentage or absolute number of tumor cells can be qualified for somatic mutation testing; and to determine how assay sensitivities can guide pathologists towards a better definition of morphology-based adequacy cut-offs. We tested 1797 tumor specimens from melanomas, colorectal and lung adenocarcinomas. Respectively, their BRAF, K-RAS and EGFR genes were analyzed at specific exons by mutation-enriched PCR, pyrosequencing, direct sequencing and real-time PCR methods. We demonstrate that poorly cellular specimens do not modify the frequency distribution of either mutated or wild-type DNA samples nor that of specific mutations. This observation suggests that currently recommended cut-offs for adequacy of specimens to be processed for molecular assays seem to be too much stringent in a laboratory context that performs highly sensitive routine analytical methods. In conclusion, new cut-offs are needed based on test sensitivities and documented tumor heterogeneity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Colorectal Neoplasms / genetics
  • Colorectal Neoplasms / pathology*
  • DNA Mutational Analysis / methods*
  • ErbB Receptors / genetics
  • Fixatives / chemistry
  • Formaldehyde / chemistry
  • Humans
  • Lung Neoplasms / genetics
  • Lung Neoplasms / pathology*
  • Melanoma / genetics
  • Melanoma / pathology*
  • Paraffin Embedding / methods
  • Paraffin Embedding / standards*
  • Proto-Oncogene Proteins B-raf / genetics
  • Proto-Oncogene Proteins p21(ras) / genetics

Substances

  • Fixatives
  • KRAS protein, human
  • Formaldehyde
  • EGFR protein, human
  • ErbB Receptors
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf
  • Proto-Oncogene Proteins p21(ras)

Grants and funding

This study was supported by the Lanzavecchia-Lastretti Foundation for "Progetto Melanoma." The funder had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.