Walter Julia, Tufman Amanda, Kumbrink Jörg, Neumann Jens, Kahnert Kathrin, Sellmer Laura, Jung Andreas, Behr Jürgen, Kauffmann-Guerrero Diego
Department of Medicine V, University Hospital, LMU Munich, Munich, Germany.
Comprehensive Pneumology Center Munich (CPC-M), Member of the German Center for Lung Research (DZL), Munich, Germany.
Transl Lung Cancer Res. 2024 Apr 29;13(4):799-810. doi: 10.21037/tlcr-23-751. Epub 2024 Apr 25.
Despite many advances in molecular procedures many lung cancer patients do not receive full panel testing. This can limit the comprehensive understanding of their disease and potentially hinder personalized treatment options.
In this retrospective analysis, we used results from next-generation sequencing (NGS) testing of 154 patients with adenocarcinoma (AC) or squamous cell carcinoma (SCC) of the lung treated at the University Hospital, Ludwig-Maximilians Universität (LMU) Munich between 2018 and 2021. We compared different clinicopathological features and patients' baseline characteristics with results of NGS testing. We used -test and analysis of variance (ANOVA) to compare metric- and χ-test and Fisher's exact test to compare categorical variables.
NGS testing found mutations in 107 (69.5%) patients; 44 patients (28.6%) had more than one mutation. The majority (79.2%) of patients had AC and 64.9% were metastasized at diagnosis. Patients with detected mutations had significantly higher expression than those without mutations (36.4% 19.2%, P=0.005). Mean expression also differed between different mutations ranging from 24.0% in to 56.8% in patients with alterations, and increased with the number of different mutations (P=0.07). mutations were significantly more common in females compared to males (22.9% 9.5%, P=0.04) and mutations significantly more common in SCC (21.9% 2.5%, P=0.004). We found 23 different mutations in AC and 13 different gene mutations in SCC.
Mutation profiles differed by histological type and metastases status and were significantly associated with expression. In the context of limited resources, our results may help prioritize patient for testing when tissue material and funding is limited.
尽管分子检测技术取得了许多进展,但许多肺癌患者并未接受全面检测。这可能会限制对其疾病的全面了解,并可能阻碍个性化治疗方案的制定。
在这项回顾性分析中,我们使用了2018年至2021年在慕尼黑路德维希 - 马克西米利安大学(LMU)大学医院接受治疗的154例肺腺癌(AC)或肺鳞状细胞癌(SCC)患者的下一代测序(NGS)检测结果。我们将不同的临床病理特征和患者的基线特征与NGS检测结果进行了比较。我们使用t检验和方差分析(ANOVA)来比较计量变量,使用χ²检验和Fisher精确检验来比较分类变量。
NGS检测在107例(69.5%)患者中发现了突变;44例(28.6%)患者有不止一种突变。大多数(79.2%)患者为AC,64.9%在诊断时已发生转移。检测到突变的患者的[某种蛋白或指标]表达明显高于未检测到突变的患者(36.4%对19.2%,P = 0.005)。不同突变之间的平均[某种蛋白或指标]表达也有所不同,从[具体突变类型1]患者中的24.0%到[具体突变类型2]患者中的56.8%,并且随着不同突变数量的增加而增加(P = 0.07)。[具体突变类型3]在女性中比男性更常见(22.9%对9.5%,P = 0.04),[具体突变类型4]在SCC中明显更常见(21.9%对2.5%,P = 0.004)。我们在AC中发现了23种不同的突变,在SCC中发现了13种不同的基因突变。
突变谱因组织学类型和转移状态而异,并且与[某种蛋白或指标]表达显著相关。在资源有限的情况下,我们的结果可能有助于在组织材料和资金有限时确定患者检测的优先级。