ty -jour a2 -bocci,guido au -chen,xinyu au -bu,bu,qing au -yan,xuexin au -li -li,ye au -yu -yu,yu,Qian au -Zheng -Zheng,haiping au -khao -Zhao -Zhao,liang au -Zeng au -Zeng au -Zeng -yanwu au -yanwu au -yanwu au-Lu,Leilei au -lan,Dong Au -MA,Jie Py -2020 DA -2020/12/08 Ti-中国患者原发性和转移性肺腺癌的基因组突变SP -6615575 VL -2020 AB -2020 AB-肺癌仍然是领先的。全球与癌症有关的死亡原因。肺癌,肺腺癌(LUAD)是最常见的亚型。大多数LUAD患者会发展为转移,这限制了可用的治疗。靶向疗法和免疫疗法为那些晚期患者提供了选择。但是他们也提出了挑战以识别合适的患者。这项研究旨在揭示原发性和转移性LUAD及其可行性中基因组突变的景观。这项研究招募了636例LUAD患者,其中85和551例分别来自有和没有转移的患者。下一代测序技术用于检索其基因组信息。 Genomic mutations including short nucleotide variation, long variation, copy number variations, and fusions were called. The corresponding actionability was revealed. A comparison of genomic mutations and actionability between primary and metastatic LUAD was performed. In primary tumors, BRCA2 and FAT3 were significantly mutated in older patients; while in metastases, ALK and NOTCH2 were significantly mutated in younger patients. Primary tumors in male patients were significantly mutated in LRP1B and KRAS. Compared to primary tumors, metastases harbored less short nucleotide variations but more copy number variations and fusions. In metastases, chromosome 1 and chromosome 9 had less short nucleotide variations and more CNV than in primary tumors. Genomic variations of activated dendritic cells were more frequently mutated in metastases. EGFR genomic variations were negatively associated with PD-L1 and TMB. Patients with EGFR inhibitor treatment tend to have lower PD-L1 expression. The revealed discrepancy between primary and metastatic lung cancer could help guide the treatment strategies and the development of novel drugs. SN - 1687-8450 UR - https://doi.org/10.1155/2020/6615575 DO - 10.1155/2020/6615575 JF - Journal of Oncology PB - Hindawi KW - ER -