Parikh Ankur R, Ali Siraj M, Schrock Alexa B, Albacker Lee A, Miller Vincent A, Stephens Phil J, Crilley Pamela, Markman Maurie
Eastern Regional Medical Center, Cancer Treatment Centers of America, Philadelphia, PA, USA.
Foundation Medicine, Inc, Cambridge, MA, USA.
Lung Cancer (Auckl). 2018 May 18;9:45-47. doi: 10.2147/LCTT.S161738. eCollection 2018.
In non-small-cell lung cancer (NSCLC) refractory to standard therapy and which lacks well-known oncogenic drivers, genomic profiling can still identify genomic alterations that may suggest potential sensitivity to targeted therapy. PTEN mutation in NSCLC may be sensitizing to analogs of rapamycin such as everolimus or temsirolimus, but more investigation is needed. We report the case of a patient with metastatic NSCLC harboring a PTEN mutation as well as high tumor mutational burden and PD-L1 positivity with a durable response to temsirolimus, but refractory to a checkpoint inhibitor. Even in the event of failure of treatment with checkpoint inhibitors in the background of a case with a higher tumor mutational burden and PD-L1 positivity, targeting specific genomic alterations may still result in patient benefit.
在对标准治疗难治且缺乏已知致癌驱动因素的非小细胞肺癌（NSCLC）中，基因组分析仍可识别出可能提示对靶向治疗潜在敏感性的基因组改变。NSCLC中的PTEN突变可能对雷帕霉素类似物（如依维莫司或替西罗莫司）敏感，但仍需更多研究。我们报告了1例转移性NSCLC患者的病例，该患者存在PTEN突变、高肿瘤突变负荷和PD-L1阳性，对替西罗莫司有持久反应，但对检查点抑制剂难治。即使在肿瘤突变负荷较高且PD-L1阳性的病例中，检查点抑制剂治疗失败，针对特定的基因组改变进行治疗仍可能使患者获益。
