Thoracic Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Thoracic Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA; Center for Molecular Oncology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Cancer Cell. 2023 May 8;41(5):970-985.e3. doi: 10.1016/j.ccell.2023.03.018. Epub 2023 Apr 20.
We analyzed 2,532 lung adenocarcinomas (LUAD) to identify the clinicopathological and genomic features associated with metastasis, metastatic burden, organotropism, and metastasis-free survival. Patients who develop metastasis are younger and male, with primary tumors enriched in micropapillary or solid histological subtypes and with a higher mutational burden, chromosomal instability, and fraction of genome doublings. Inactivation of TP53, SMARCA4, and CDKN2A are correlated with a site-specific shorter time to metastasis. The APOBEC mutational signature is more prevalent among metastases, particularly liver lesions. Analyses of matched specimens show that oncogenic and actionable alterations are frequently shared between primary tumors and metastases, whereas copy number alterations of unknown significance are more often private to metastases. Only 4% of metastases harbor therapeutically actionable alterations undetected in their matched primaries. Key clinicopathological and genomic alterations in our cohort were externally validated. In summary, our analysis highlights the complexity of clinicopathological features and tumor genomics in LUAD organotropism.
我们分析了 2532 例肺腺癌 (LUAD),以确定与转移、转移负担、器官倾向性和无转移生存相关的临床病理和基因组特征。发生转移的患者更年轻、更男性化,其原发肿瘤富含微乳头状或实性组织学亚型,且具有更高的突变负担、染色体不稳定性和基因组倍增分数。TP53、SMARCA4 和 CDKN2A 的失活与特定部位转移时间较短相关。APOBEC 突变特征在转移中更为普遍,特别是肝病变。配对标本的分析表明,原发肿瘤和转移瘤之间经常共享致癌和可操作的改变,而意义不明的拷贝数改变则更常是转移瘤所特有的。只有 4%的转移瘤携带其配对原发肿瘤中未检测到的治疗性可操作改变。本队列中的关键临床病理和基因组改变在外部得到了验证。总之,我们的分析强调了 LUAD 器官倾向性中临床病理特征和肿瘤基因组学的复杂性。