Qian Jie, Chen Rongrong, Zhao Ruiying, Han Yuchen, Yu Yongfeng
Shanghai Lung Cancer Center, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai, China.
Department of Internal medicine, Huadong Hospital, Fudan University, Shanghai, China.
Front Oncol. 2020 Dec 10;10:607130. doi: 10.3389/fonc.2020.607130. eCollection 2020.
This study aims to profile integrative genomic spectra of Chinese patients with different subtypes of lung squamous cell carcinoma (LUSC) and explore potential molecular prognosis factors.
We retrospectively identified 204 surgically resected LUSC patients in Shanghai Chest Hospital who underwent capture-based targeted next-generation sequencing (NGS) with a panel of 68 lung cancer-related genes from September 2017 to January 2019. NGS was used to profile comprehensive molecular characterizations.
Of 204 cases, 114 (55.9%) were keratinizing squamous cell carcinoma (KSCC), 77 (37.7%) were non-keratinizing squamous cell carcinoma (NKSCC), 13 (6.4%) were basaloid squamous cell carcinoma (BSCC), respectively. All subtypes presented similarly high proportions of mutations, including TP53, CDKN2A, and NOTCH1. A comparable prevalence of FGFR1 amplifications was identified between KSCC and NKSCC (11.4 26.9%, p = 0.007). Compared with NKSCC, IGF1R amplifications were more frequent in BSCC (0 15.4%, p = 0.019). We found cases with TP53 alterations had less EGFR alterations in KSCC (P = 0.013, OR = 0.158). Compared with TCGA cohorts, our Chinese cohorts exhibited statistic differences in both somatic mutations and signaling pathways. We found that STK 11 alterations and TOP2A alterations were significantly associated with higher risk of recurrence in patients with LUSC.
Significant differences exist among three subtypes of LUSC in molecular characterizations.
本研究旨在剖析中国不同亚型肺鳞状细胞癌（LUSC）患者的综合基因组图谱，并探索潜在的分子预后因素。
我们回顾性纳入了2017年9月至2019年1月期间在上海胸科医院接受手术切除的204例LUSC患者，这些患者接受了基于捕获的靶向二代测序（NGS），检测了一组68个肺癌相关基因。NGS用于分析全面的分子特征。
204例病例中，分别有114例（55.9%）为角化性鳞状细胞癌（KSCC），77例（37.7%）为非角化性鳞状细胞癌（NKSCC），13例（6.4%）为基底样鳞状细胞癌（BSCC）。所有亚型的突变比例均较高，包括TP53、CDKN2A和NOTCH1。KSCC和NKSCC之间FGFR1扩增的发生率相当（11.4%对26.9% , p = 0.007）。与NKSCC相比，IGF1R扩增在BSCC中更常见（0对15.4% , p = 0.019）。我们发现，KSCC中TP53改变的病例EGFR改变较少（P = 0.013，OR = 0.158）。与TCGA队列相比，我们的中国队列在体细胞突变和信号通路方面均表现出统计学差异。我们发现，STK11改变和TOP2A改变与LUSC患者的复发风险显著相关。
LUSC的三种亚型在分子特征上存在显著差异。
