Affiliated Foshan Maternity and Child Healthcare Hospital, Southern Medical University (Foshan Maternity & Child Healthcare Hospital), Foshan, China.
Department of Bioinformatics, Fujian Key Laboratory of Medical Bioinformatics, School of Basic Medical Sciences, Fujian Medical University, Fuzhou, China.
J Cell Mol Med. 2021 Apr;25(7):3622-3633. doi: 10.1111/jcmm.16467. Epub 2021 Mar 14.
Currently, due to the low quality of RNA caused by degradation or low abundance, the accuracy of gene expression measurements by transcriptome sequencing (RNA-seq) is very challenging for non-research-oriented clinical samples, majority of which are preserved in hospitals or tissue banks worldwide with complete pathological information and follow-up data. Molecular signatures consisting of several genes are rarely applied to such samples. To utilize these resources effectively, 45 stage II non-research-oriented samples which were formalin-fixed paraffin-embedded (FFPE) colorectal carcinoma samples (CRC) using RNA-seq have been analysed. Our results showed that although gene expression measurements were significantly affected, most cancer features, based on the relative expression orderings (REOs) of gene pairs, were well preserved. We then developed two REO-based signatures, which consisted of 136 gene pairs for early diagnosis of CRC, and 4500 gene pairs for predicting post-surgery relapse risk of stage II and III CRC. The performance of our signatures, which included hundreds or thousands of gene pairs, was more robust for non-research-oriented clinical samples, compared to that of two published concise REO-based signatures. In conclusion, REO-based signatures with relatively more gene pairs could be robustly applied to non-research-oriented CRC samples.
目前,由于降解或低丰度导致的 RNA 质量低,对于非研究导向的临床样本,通过转录组测序(RNA-seq)进行基因表达测量的准确性非常具有挑战性,这些样本大多数保存在世界各地的医院或组织库中,具有完整的病理信息和随访数据。由几个基因组成的分子特征很少应用于此类样本。为了有效利用这些资源,我们对 45 个 II 期非研究导向的福尔马林固定石蜡包埋(FFPE)结直肠癌样本(CRC)进行了 RNA-seq 分析。结果表明,尽管基因表达测量受到显著影响,但大多数癌症特征(基于基因对的相对表达顺序(REO))都得到了很好的保留。然后,我们开发了两个基于 REO 的签名,其中包括用于 CRC 早期诊断的 136 个基因对和用于预测 II 期和 III 期 CRC 手术后复发风险的 4500 个基因对。与两个已发表的简洁 REO 签名相比,我们的签名(包含数百或数千个基因对)对非研究导向的临床样本的性能更稳健。总之,具有相对更多基因对的基于 REO 的签名可以稳健地应用于非研究导向的 CRC 样本。