Tchekmedyian Nishan, Mudad Raja, Blanco Fernando F, Raymond Victoria M, Garst Jordan, Erlander Mark G, Haura Eric, Berz David
H. Lee Moffitt Cancer Center and Research Institute, University of South Florida, Tampa, FL 33612, United States.
Division of Hematology-Oncology, Sylvester Comprehensive Cancer Center, University of Miami School of Medicine, 1475 NW 12 Avenue, Miami, FL 33136, United States.
Lung Cancer. 2017 Jun;108:22-28. doi: 10.1016/j.lungcan.2017.02.010. Epub 2017 Feb 20.
Targetable, somatic EGFR mutations are highly prevalent in patients with non-small cell lung cancer (NSCLC), making them eligible for tyrosine kinase inhibitor (TKI) therapy. Circulating tumor DNA (ctDNA), isolated from blood or urine, has been demonstrated to reliably identify somatic tumor associated EGFR mutations, specifically in patients with inconclusive biopsy. When conventional imaging modalities are inconclusive, quantitative assessment of systemic ctDNA burden has the potential to assess therapeutic response. We report on the clinical use of non-invasive, urinary ctDNA liquid biopsies for the ultrasensitive detection and longitudinal monitoring of ctDNA EGFR systemic mutation burden in five patients with NSCLC treated with EGFR TKIs. Urinary ctDNA-based quantitative assessment of systemic EGFR mutant allele burden is a non-invasive molecular diagnostic testing modality that has the potential to be utilized as an ancillary tool to assess disease burden and response to therapy.
可靶向的体细胞表皮生长因子受体（EGFR）突变在非小细胞肺癌（NSCLC）患者中非常普遍，这使得他们有资格接受酪氨酸激酶抑制剂（TKI）治疗。从血液或尿液中分离出的循环肿瘤DNA（ctDNA）已被证明能够可靠地识别与肿瘤相关的体细胞EGFR突变，特别是在活检结果不明确的患者中。当传统成像方式无法得出明确结论时，对全身ctDNA负荷进行定量评估有可能评估治疗反应。我们报告了对5例接受EGFR-TKI治疗的NSCLC患者进行非侵入性尿ctDNA液体活检用于超灵敏检测和纵向监测ctDNA EGFR全身突变负荷的临床应用情况。基于尿ctDNA的全身EGFR突变等位基因负荷定量评估是一种非侵入性分子诊断检测方式，有潜力作为评估疾病负担和治疗反应的辅助工具。
