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:

新鲜冷冻的组织是用于下一代测序（NGS）的“金标准”生物样本类型。但是，收集冷冻组织通常是不可行的，因为临床工作流程会提供福尔马林固定，石蜡包埋（FFPE）的组织块。一些临床医生和研究人员不愿将FFPE组织用于NGS，因为FFPE组织可以产生少量的降解DNA，其中包含福尔马林诱导的突变。我们描述了福尔马林诱导的脱氨作用可导致人为的胞嘧啶（C）生成胸腺嘧啶（T）和鸟嘌呤（G）生成腺嘌呤（A）（C：G> T：A）突变的过程，并进行了文献综述17个出版物比较了来自患者匹配的新鲜冷冻和FFPE组织块的NGS数据。