Peña Karla Beatríz, Riu Francesc, Hernandez Anna, Guilarte Carmen, Elizalde-Horcada Marcos, Parada David
Molecular Pathology Unit, Department of Pathology, Hospital Universitari de Sant Joan, 43202 Reus, Tarragona, Spain.
Institut d'Investigació Sanitària Pere Virgili, 43202 Reus, Tarragona, Spain.
Biomedicines. 2023 May 29;11(6):1578. doi: 10.3390/biomedicines11061578.
In patients with advanced cancer, it is necessary to detect driver mutations and genetic arrangements. If a mutation is found, targeted therapy may become an option. However, in most patients with advanced cancer, obtaining material can be challenging, and these determinations must be made based on small biopsies or cytologic samples. We analyzed the ability of liquid-based cytology to determine the mutational status in patients with advanced cancer by next-generation sequencing. We studied cytologic samples from 28 patients between 1 January 2018 and 31 December 2022. All samples were processed by next-generation sequencing using the Oncomine Precision and Comprehensive Assay Panels for Solid Tumors. Eleven male and 17 female patients with a median age of 63.75 years were included. Clinical stage IV was predominant in 21 patients. Eleven patients died, and 17 survived. The DNA and RNA concentrations were 10.53 ng/µL and 13 ng/µL, respectively. Eleven patients showed actionable mutations, and 17 showed other genomic alterations. Liquid-based cytology can be used as a component of liquid biopsy, as it allows the identification of actionable mutations in patients with advanced oncological disease. Our findings expand the utility of liquid biopsy from different body fluids or cell aspirates.
对于晚期癌症患者，检测驱动突变和基因重排很有必要。如果发现突变，靶向治疗可能成为一种选择。然而，在大多数晚期癌症患者中，获取样本材料可能具有挑战性，这些检测必须基于小活检或细胞学样本进行。我们分析了液基细胞学通过下一代测序确定晚期癌症患者突变状态的能力。我们研究了2018年1月1日至2022年12月31日期间28例患者的细胞学样本。所有样本均使用实体瘤的Oncomine Precision和综合检测面板通过下一代测序进行处理。纳入了11名男性和17名女性患者，中位年龄为63.75岁。21例患者以临床IV期为主。11例患者死亡，17例存活。DNA和RNA浓度分别为10.53 ng/µL和13 ng/µL。11例患者显示有可操作的突变，17例显示有其他基因组改变。液基细胞学可作为液体活检的一个组成部分，因为它能够识别晚期肿瘤疾病患者的可操作突变。我们的研究结果扩展了来自不同体液或细胞抽吸物的液体活检的应用范围。
