PDF(Pubmed)
Abstract：
The identification of anticancer therapies using next-generation sequencing (NGS) is necessary for the treatment of cholangiocarcinoma. NGS can be easily performed when cell blocks (CB) are obtained from bile stored overnight. We compared NGS results of paired CB and surgically resected specimens (SRS) from the same cholangiocarcinoma cases. Of the prospectively collected 64 bile CBs from 2018 to 2023, NGS was performed for three cases of cholangiocarcinoma that could be compared with the SRS results. The median numbers of DNA and RNA reads were 95,077,806 [CB] vs. 93,161,788 [SRS] and 22,101,328 [CB] vs. 24,806,180 [SRS], respectively. We evaluated 588 genes and found that almost all genetic alterations were attributed to single-nucleotide variants, insertions/deletions, and multi-nucleotide variants. The coverage rate of variants in SRS by those found in CB was 97.9-99.2%, and the coverage rate of SRS genes by CB genes was 99.6-99.7%. The NGS results of CB fully covered the variants and genetic alterations observed in paired SRS samples. As bile CB is easy to prepare in general hospitals, our results suggest the potential use of bile CB as a novel method for NGS-based evaluation of cholangiocarcinoma.
摘要：
使用下一代测序（NGS）鉴定抗癌疗法对于治疗胆管癌是必要的。当从储存过夜的胆汁中获得细胞块(CB)时,可以容易地进行NGS。我们比较了来自相同胆管癌病例的配对CB和手术切除标本（SRS）的NGS结果。在2018年至2023年前瞻性收集的64例胆汁CBs中，对3例胆管癌进行了NGS，可与SRS结果进行比较。DNA和RNA读数的中位数为95,077,806[CB]vs.93,161,788[SRS]和22,101,328[CB]vs.24,806,180[SRS]，分别。我们评估了588个基因，发现几乎所有的遗传变异都归因于单核苷酸变异，插入/删除，和多核苷酸变体。CB中发现的SRS变体的覆盖率为97.9-99.2％，CB基因对SRS基因的覆盖率为99.6-99.7%。CB的NGS结果完全涵盖了配对SRS样品中观察到的变体和遗传改变。由于胆汁CB在综合医院很容易制备，我们的结果表明,胆汁CB作为一种基于NGS的胆管癌评估新方法的潜在用途.
