Department I of Internal Medicine, Center for Integrated Oncology Köln-Bonn, University Hospital Cologne, Cologne, Germany.
Lung Cancer. 2013 Jul;81(1):142-3. doi: 10.1016/j.lungcan.2013.02.018. Epub 2013 Apr 1.
A 55-year-old Caucasian woman with lung adenocarcinoma stage IV presented with repeated relapse after treatment with cytotoxic chemotherapy (carboplatin, gemcitabine, docetaxel, pemetrexed) and targeted agents (erlotinib, cetuximab, sunitinib). Comprehensive molecular diagnostics (EGFR-, ALK-, RAS-, BRAF-, PIK3CA-, HER2- and DDR2-aberrations) were performed and failed initially to detect any driver mutation. While the patient suffered from rapid deterioration of her general condition, in particular from progressive dyspnea due to lung metastases, we implemented screening for RET- and ROS1 translocations into our molecular diagnostic program based on recent reports of these new molecular subgroups in lung adenocarcinoma. On retesting the patient's tumor sample was found to harbor a ROS1-translocation. The patient was subsequently treated with crizotinib and experienced a pronounced clinical improvement corresponding to a complete metabolic response in (18)F-FDG-PET and a good and confirmed partial response in CT (RECIST 1.1). Our case exemplifies the need for rapid implementation of newly discovered rare genetic lung cancer subtypes in routine molecular diagnostics.
一位 55 岁的白人女性患有 IV 期肺腺癌，在接受细胞毒性化疗（卡铂、吉西他滨、多西他赛、培美曲塞）和靶向药物（厄洛替尼、西妥昔单抗、舒尼替尼）治疗后多次复发。进行了全面的分子诊断（EGFR-、ALK-、RAS-、BRAF-、PI3KCA-、HER2-和 DDR2-异常），但最初未能检测到任何驱动突变。尽管患者的一般状况迅速恶化，特别是由于肺转移导致进行性呼吸困难，但我们根据最近关于肺腺癌中这些新分子亚群的报告，将 RET-和 ROS1 易位纳入我们的分子诊断程序进行筛选。在重新检测患者的肿瘤样本时，发现存在 ROS1 易位。随后，患者接受了克唑替尼治疗，并经历了明显的临床改善，对应于 (18)F-FDG-PET 的完全代谢反应和 CT（RECIST 1.1）的良好且确认的部分反应。我们的病例说明了在常规分子诊断中快速实施新发现的罕见遗传性肺癌亚型的必要性。
