Lin Huamao M, Yin Yu, Crossland Victoria, Wu Yanyu, Ou Sai-Hong Ignatius
Global Evidence and Outcome Research, Takeda Development Center Americas, Inc., Lexington, Massachusetts.
Irvine School of Medicine, The University of California, Irvine, California.
JTO Clin Res Rep. 2022 Jan 25;3(3):100285. doi: 10.1016/j.jtocrr.2022.100285. eCollection 2022 Mar.
exon 20 insertions () are a diverse set of mutations in NSCLC that are refractory to tyrosine kinase inhibitors. We describe real-world detection patterns in patients with advanced NSCLC in the United States.
Data from 2011 to 2020 were extracted from the Flatiron Health electronic health record-derived deidentified database.
Among 67,281 patients with advanced NSCLC and at least two clinic visits, 66.8% were tested for mutations, of whom 13.9% tested positive. Of these, 4.9% had . The median time from NSCLC diagnosis to the first positive test result was 23 days, including 9 days of laboratory testing time. The were reported in 0.6% to 1.0% of all patients with advanced NSCLC and account for 3.9% to 5.3% of all mutations. During the study period, reverse transcription-polymerase chain reaction testing rates decreased whereas next-generation sequencing rates increased both in overall and among patients with tumors positive for . Tissue was the most common sample type used for and detection (81.1% and 84.9%, respectively), whereas blood sampling for detection increased from 0% (2011) to 37.2% (2020). For 23.7% of patients with , treatment was initiated before receiving the first positive test result, with therapies including immuno-oncology agents as the most common treatment type from 2017 to 2020.
testing and detection of in patients with NSCLC have increased slightly over time with the increasing use of next-generation sequencing. The current late-stage development of -targeted therapy is driving a need for more efficient testing.
外显子20插入是一组在非小细胞肺癌（NSCLC）中对酪氨酸激酶抑制剂难治的多样化突变。我们描述了美国晚期NSCLC患者的真实世界检测模式。
从Flatiron Health电子健康记录衍生的去识别数据库中提取2011年至2020年的数据。
在67281例晚期NSCLC且至少有两次门诊就诊的患者中，66.8%接受了外显子20插入突变检测，其中13.9%检测呈阳性。在这些阳性患者中，4.9%存在外显子20插入。从NSCLC诊断到首次外显子20插入阳性检测结果的中位时间为23天，其中实验室检测时间为9天。外显子20插入在所有晚期NSCLC患者中的报告率为0.6%至1.0%，占所有外显子20插入突变的3.9%至5.3%。在研究期间，逆转录聚合酶链反应检测率下降，而新一代测序率在总体以及外显子20插入阳性肿瘤患者中均有所上升。组织是用于外显子20插入和其他检测的最常见样本类型（分别为81.1%和84.9%），而用于外显子20插入检测的血液采样率从2011年的0%增加到2020年的37.2%。对于23.7%的外显子20插入患者，在获得首次外显子20插入阳性检测结果之前就开始了治疗，2017年至2020年期间，免疫肿瘤药物等疗法是最常见的治疗类型。
随着新一代测序技术的使用增加，NSCLC患者中外显子20插入的检测随时间略有增加。目前外显子20插入靶向治疗的后期开发推动了对更高效检测的需求。
