Department of Pharmacy and Biotechnology, Molecular Diagnostic Unit, University of Bologna, Bologna, Italy
Division of Molecular Pathology Laboratory, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
J Clin Pathol. 2022 Jul;75(7):488-492. doi: 10.1136/jclinpath-2021-207468. Epub 2021 Apr 5.
In metastatic colorectal carcinomas (mCRC), / genes mutations are first tested to determine the eligibility for anti-EGFR (Epidermal Growth Factor Receptor) therapy in combination with conventional cytotoxic agents. Recent advancements in next-generation sequencing (NGS) have highlighted the potential of multi-gene panels. This multi-gene analysis may provide useful information for the molecular characterisation of mCRC, other than the status of genes. Aim of this study was to evaluate the feasibility of two NGS custom multi-gene panels in the characterisation of CRC cases and evaluating the relevance of mutation in a routine cohort of consecutive CRC cases.
A total of 961 formalin-fixed and paraffin-embedded specimens from two medical centres (Bologna and Naples) were analysed using two lab-developed NGS multi-gene panels.
mutations (56.2%) were the more frequent alterations observed in our cohort. Intriguingly, mutations were more frequent (16.8%) than variants observed in the other two genes nowadays analysed in CRC clinical practice ( and , 4.2% and 9.6%, respectively). Moreover, in more than 10% of samples, coexistent mutations were detected in our cohort of CRC.
Our study demonstrates the feasibility and efficacy of lab-developed targeted multi-gene NGS panels in the clinical practice of CRC. Moreover, the data lead to hypothesise that mutations, together with those of /, worth to be further investigated in clinical CRC specimens.
在转移性结直肠癌（mCRC）中，首先检测基因突变，以确定是否有资格接受抗表皮生长因子受体（EGFR）治疗与传统细胞毒药物联合治疗。下一代测序（NGS）的最新进展突出了多基因面板的潜力。这种多基因分析除了基因状态外，还可能为 mCRC 的分子特征提供有用信息。本研究旨在评估两种 NGS 定制多基因面板在 CRC 病例特征分析中的可行性，并评估常规连续 CRC 病例中突变的相关性。
共分析了来自两个医学中心（博洛尼亚和那不勒斯）的 961 例福尔马林固定石蜡包埋标本，使用两种实验室开发的 NGS 多基因面板进行分析。
在我们的队列中，观察到最常见的改变是突变（56.2%）。有趣的是，在其他两个目前在 CRC 临床实践中分析的基因（和，分别为 4.2%和 9.6%）中观察到的变体中，突变更为常见（16.8%）。此外，在我们 CRC 队列的超过 10%的样本中，检测到共存的突变。
我们的研究证明了实验室开发的靶向多基因 NGS 面板在 CRC 临床实践中的可行性和有效性。此外，这些数据使我们假设突变，以及/和，值得在临床 CRC 标本中进一步研究。
