Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada.
Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
J Mol Diagn. 2019 Jul;21(4):705-717. doi: 10.1016/j.jmoldx.2019.03.005. Epub 2019 May 2.
Formalin fixation is the standard method for the preservation of tissue for diagnostic purposes, including pathologic review and molecular assays. However, this method is known to cause artifacts that can affect the accuracy of molecular genetic test results. We assessed the applicability of alternative fixatives to determine whether these perform significantly better on next-generation sequencing assays, and whether adequate morphology is retained for primary diagnosis, in a prospective study using a clinical-grade, laboratory-developed targeted resequencing assay. Several parameters relating to sequencing quality and variant calling were examined and quantified in tumor and normal colon epithelial tissues. We identified an alternative fixative that suppresses many formalin-related artifacts while retaining adequate morphology for pathologic review.
福尔马林固定是用于诊断目的的组织保存的标准方法，包括病理复查和分子检测。然而，这种方法会导致人为假象，影响分子遗传检测结果的准确性。我们评估了替代固定剂的适用性，以确定它们在下一代测序检测中是否表现得更好，以及在使用临床级别的实验室开发的靶向重测序检测的前瞻性研究中，是否保留了足够的形态用于初始诊断。我们检查和量化了与测序质量和变异调用相关的几个参数，在肿瘤和正常结肠上皮组织中。我们确定了一种替代固定剂，它可以抑制许多与福尔马林相关的人为假象，同时保留足够的形态用于病理复查。
