Why formalin-fixed, paraffin-embedded biospecimens must be used in genomic medicine: an evidence-based review and conclusion.
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Published version
OA Location
Author(s)
Mathieson, William
Thomas, Geraldine A
Type
Journal Article
Abstract
Fresh-frozen tissue is the "gold standard" biospecimen type for next-generation sequencing (NGS). However, collecting frozen tissue is usually not feasible because clinical workflows deliver formalin-fixed, paraffin-embedded (FFPE) tissue blocks. Some clinicians and researchers are reticent to embrace the use of FFPE tissue for NGS because FFPE tissue can yield low quantities of degraded DNA, containing formalin-induced mutations. We describe the process by which formalin-induced deamination can lead to artifactual cytosine (C) to thymine (T) and guanine (G) to adenine (A) (C:G > T:A) mutation calls and perform a literature review of 17 publications that compare NGS data from patient-matched fresh-frozen and FFPE tissue blocks. We conclude that although it is indeed true that sequencing data from FFPE tissue can be poorer than those from frozen tissue, any differences occur at an inconsequential magnitude, and FFPE biospecimens can be used in genomic medicine with confidence.
Date Issued
2020-07-22
Date Acceptance
2020-07-01
Citation
Journal of Histochemistry and Cytochemistry: imaging the spectrum of cell biology, 2020, 68 (8), pp.543-552
ISSN
0022-1554
Publisher
SAGE Publications
Start Page
543
End Page
552
Journal / Book Title
Journal of Histochemistry and Cytochemistry: imaging the spectrum of cell biology
Volume
68
Issue
8
Copyright Statement
© The Author(s) 2020. This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
Sponsor
Imperial College Healthcare NHS Trust- BRC Funding
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/32697619
Grant Number
RDF03
Subjects
UDG
cytosine
deamination
formaldehyde
uracil-DNA glycosylase
Publication Status
Published
Coverage Spatial
United States
Date Publish Online
2020-07-22