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Updated: May 5, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
[Which samples for molecular biology analyses: Prerequisites and limits]
Delphine Poncet1, Fabienne Escande2
1Unité de biologie moléculaire somatique, service d'anatomo-cyto-pathologie, groupement hospitalier Est, hospices civils de Lyon, 69394 Bron, France; Team Chromatin Dynamics, Nuclear Domains, Virus, CNRS UMR 5261, Inserm U 1315, LabEx DEVweCAN, Institut NeuroMyoGène (INMG), Pathophysiology and Genetics of the Neuron and Muscle (PGNM) Laboratory, 69008 Lyon, France.
Abstract:
Molecular analyses performed on cell and tissue samples play a major diagnostic, prognostic, and theragnostic role. Their complexity and diversity, as well as that of the biological matrix involved (formalin-fixed paraffin-embedded tissue, frozen tissue, cytological sample, liquid biopsy), are increasing. The tumor cell content of the sample is an important limiting factor as well as the quality and quantity of nucleic acids extracted from the initial matrix. Therefore, it is crucial to understand and manage the conditions of sample preparation and storage, as those will directly impact the quality of the extracted material and constrain the types of analyses that will be performed. This article highlights the key pre-analytical steps as well as the limitations and interpretative biases that may result from mishandling of the samples.

