Shang Xueqian, Qi Kang, Liu Xiangzheng, Liu Qinghao, Zhang Xining, Wang Dongliang, Huang Weiming
Department of Thoracic Surgery, Peking University First Hospital, Beijing, China.
ChosenMed Technology Co., Ltd., Beijing, China.
Front Oncol. 2022 Sep 30;12:854999. doi: 10.3389/fonc.2022.854999. eCollection 2022.
PARP inhibitors can be used to treat solid tumors that often have mutations in important homologous recombination (HR) genes, such as BRCA1/2. While other kinds of tumors could also experience HR deficiencies, including those associated with lung cancer, there is little information on the frequency of these occurrences. Homologous recombination deficiency (HRD) was used to induce particular DNA aberration profiles and related transcriptome alterations. Their presence can identify whether an HR deficiency is present or absent in a particular tumor sample, even without observed HR gene changes. From whole-exome sequencing data in lung adenocarcinoma obtained from TCGA, we obtained several mutational signatures associated with HRD and determined that these HRD-associated mutational signatures are related to genomic installability. We then constructed a prediction model, which found that 11 genes associated with HRD scores could be used as predictors of survival outcomes in LUAD patients. These genes are related to PI3K-Akt, T cell receptors, and the Chemokine pathway. Other GEO datasets validated the survival prediction, which was independent of the PD1/PDL1 treatment. Collectively, our study provides transcriptome biomarkers of lung adenocarcinoma complementary to the HRD score and introduces a novel method of identifying prognostic biomarkers of immunotherapy.
聚(ADP-核糖)聚合酶(PARP)抑制剂可用于治疗实体瘤,这类肿瘤通常在重要的同源重组(HR)基因(如BRCA1/2)中存在突变。虽然其他类型的肿瘤也可能存在HR缺陷,包括与肺癌相关的肿瘤,但关于这些情况发生频率的信息很少。同源重组缺陷(HRD)被用于诱导特定的DNA畸变谱和相关的转录组改变。它们的存在可以确定特定肿瘤样本中是否存在HR缺陷,即使没有观察到HR基因的变化。从癌症基因组图谱(TCGA)获得的肺腺癌全外显子测序数据中,我们获得了几个与HRD相关的突变特征,并确定这些与HRD相关的突变特征与基因组可安装性有关。然后我们构建了一个预测模型,发现11个与HRD评分相关的基因可以作为肺腺癌(LUAD)患者生存结果的预测指标。这些基因与磷脂酰肌醇-3-激酶-蛋白激酶B(PI3K-Akt)、T细胞受体和趋化因子途径有关。其他基因表达综合数据库(GEO)数据集验证了生存预测,该预测独立于程序性死亡蛋白1(PD1)/程序性死亡受体配体1(PDL1)治疗。总的来说,我们的研究提供了与HRD评分互补的肺腺癌转录组生物标志物,并引入了一种识别免疫治疗预后生物标志物的新方法。