Drejeriene Ieva, Cicenas Saulius, Stanciute Diana, Krasauskas Arnoldas, Gruode Jurate
Faculty of Medicine, Vilnius University, 03101 Vilnius, Lithuania.
Klaipeda University Hospital, 92288 Klaipeda, Lithuania.
Cancers (Basel). 2024 May 3;16(9):1770. doi: 10.3390/cancers16091770.
Non-small-cell lung cancer (NSCLC) is the most prevalent type of lung cancer, with extensively characterized mutational spectra. Several biomarkers (such as , , gene mutations, etc.) have emerged as predictive and prognostic markers for NSCLC. Unfortunately, the quality of the available tumor biopsy and/or cytology material is not always adequate to perform the necessary molecular testing, prompting the search for alternatives. Cell-free DNA (cfDNA) found in plasma is emerging as a highly promising avenue or a supplementary method for assessing the efficacy of cancer treatments. This is especially valuable in instances where conventional biopsy specimens, like formalin-fixed, paraffin-embedded (FFPE), or freshly frozen tumor tissues prove inadequate for conducting molecular pathology analyses subsequent to the initial diagnostic procedures. By leveraging cfDNA from plasma, clinicians gain an additional tool to gauge the effectiveness of cancer therapies, thereby enhancing their ability to optimize tailored treatment strategies. In this study, 51 Lithuanian females with NSCLC were analyzed, with adenocarcinoma being the predominant pathology diagnosis in 40 cases (78%). Target mutations were identified in 38 out of 51 patients (74.5%) in tumor tissue samples, while in plasma samples, they were identified in only 10 patients' samples (19.6%). Even though we did not have enough voluminous plasma samples in our study, gene mutations were detected in plasma from ten women, three of whom were diagnosed with early stages of lung cancer (stages I and II). For these patients, the following mutations were detected: deletion in exon 19 of the gene and single nucleotide polymorphisms in the and genes. All other women were diagnosed with stages III or IV of lung cancer. This indicates that the later stages of cancer contribute more cfDNA in plasma, making extraction less complicated.
非小细胞肺癌（NSCLC）是最常见的肺癌类型，其突变谱已得到广泛表征。几种生物标志物（如 、 、 基因突变等）已成为NSCLC的预测和预后标志物。不幸的是，现有的肿瘤活检和/或细胞学材料的质量并不总是足以进行必要的分子检测，这促使人们寻找替代方法。血浆中发现的游离DNA（cfDNA）正成为评估癌症治疗疗效的极有前景的途径或补充方法。这在传统活检标本（如福尔马林固定、石蜡包埋（FFPE）或新鲜冷冻的肿瘤组织）在初始诊断程序后不足以进行分子病理学分析的情况下尤其有价值。通过利用血浆中的cfDNA，临床医生获得了一种额外的工具来评估癌症治疗的效果，从而增强了他们优化个性化治疗策略的能力。在本研究中，对51名立陶宛女性非小细胞肺癌患者进行了分析，其中40例（78%）的主要病理诊断为腺癌。在51例患者的肿瘤组织样本中，有38例（74.5%）检测到目标突变，而在血浆样本中，仅在10例患者样本中检测到（19.6%）。尽管我们的研究中没有足够大量的血浆样本，但在10名女性的血浆中检测到了基因突变，其中3名被诊断为肺癌早期（I期和II期）。对于这些患者，检测到以下突变： 基因外显子19缺失以及 基因和 基因中的单核苷酸多态性。所有其他女性被诊断为肺癌III期或IV期。这表明癌症晚期在血浆中贡献的cfDNA更多，使得提取更简单。
