Zheng Ruifang, Yin Zhiwei, Alhatem Albert, Lyle Derek, You Bei, Jiang Andrew S, Liu Dongfang, Jobbagy Zsolt, Wang Qing, Aisner Seena, Jiang Jie-Gen
Department of Pathology, Immunology & Laboratory Medicine, Rutgers New Jersey Medicine School, Newark, NJ 07103, USA.
Genoptix Medical Laboratory, 2110 Rutherford Road, Carlsbad, CA 92008, USA.
Cancers (Basel). 2020 Nov 24;12(12):3492. doi: 10.3390/cancers12123492.
Targeted therapy has changed the paradigm of advanced NSCLC management by improving the survival rate of patients carrying actionable gene alterations using specific inhibitors. The epidemiologic features of these alterations vary among races. Understanding the racial differences benefits drug development, clinical trial design, and health resource allocation. Compared to Caucasian and Asian populations, current knowledge on Hispanic patients is less and no data of Hispanic patients from Puerto Rico have been reported. We retrieved and analyzed the demographic, clinical, and molecular data of Hispanic NSCLC patients from Puerto Rico with molecular tests performed in the Genoptix Medical Laboratory in Carlsbad, CA, USA between 2011 and 2018. The majority of the NSCLC patients in our study had either adenocarcinoma (75.4%) or squamous cell carcinoma (15.1%). The incidence of mutations was 24%. They were more common in female and younger patients (<60 years). The deletion of Exon 19 and Exon 21 L858R comprised 55.1% and 31.0% of all mutations, respectively. The frequency of the T790M mutation was lower compared to that of Hispanic patients reported in the literature (0.5% vs. 2.1%). In addition, 18.7% of the patients were positive for mutations, which was at the high end of that reported in Hispanic patients. Other driver gene alterations, , , , , , , etc., demonstrated similar incidences, as well as gender and age distributions to those previously reported. The and co-mutations were of very low frequencies (3.6%), which could potentially affect the responsiveness to PD1/PD-L1 immunotherapy. Our study demonstrated that the prevalence of NSCLC gene alterations in Hispanic patients from Puerto Rico was comparable to the reported average prevalence in Latin American countries, supporting the intermediate NSCLC gene alteration rate of Hispanic patients between Asian and Caucasian patients. Novel information of the frequencies of mutation subtypes, driver gene alterations in , , and , and passenger gene alterations including a rare case with the translocation in Hispanic NSCLC patients from Puerto Rico were also described.
靶向治疗通过使用特定抑制剂提高携带可操作基因改变患者的生存率,改变了晚期非小细胞肺癌(NSCLC)的治疗模式。这些改变的流行病学特征因种族而异。了解种族差异有助于药物研发、临床试验设计和卫生资源分配。与白种人和亚洲人群相比,目前对西班牙裔患者的了解较少,且尚未有来自波多黎各的西班牙裔患者的数据报道。我们检索并分析了2011年至2018年期间在美国加利福尼亚州卡尔斯巴德的Genoptix医学实验室进行分子检测的波多黎各西班牙裔NSCLC患者的人口统计学、临床和分子数据。我们研究中的大多数NSCLC患者患有腺癌(75.4%)或鳞状细胞癌(15.1%)。突变的发生率为24%。它们在女性和年轻患者(<60岁)中更为常见。外显子19缺失和外显子21 L858R分别占所有突变的55.1%和31.0%。与文献报道的西班牙裔患者相比,T790M突变的频率较低(0.5%对2.1%)。此外,18.7%的患者 突变呈阳性,这处于西班牙裔患者报道的较高水平。其他驱动基因改变,如 、 、 、 、 、 、 等,其发生率以及性别和年龄分布与先前报道的相似。 和 共突变的频率非常低(3.6%),这可能会影响对PD1/PD-L1免疫治疗的反应性。我们的研究表明,来自波多黎各的西班牙裔患者中NSCLC基因改变的患病率与拉丁美洲国家报道的平均患病率相当,支持了西班牙裔患者的NSCLC基因改变率介于亚洲和白种人患者之间。还描述了波多黎各西班牙裔NSCLC患者中 突变亚型的频率、 、 和 中的驱动基因改变以及包括罕见的 易位病例在内的乘客基因改变的新信息。