Epigenetics Laboratory, Department of Genetics, Hospital Universitario La Paz, Madrid, Spain.
Experimental Therapies and Novel Biomarkers in Cancer, Hospital Universitario La Paz Institute for Health Research (IdiPAZ), Madrid, Spain.
Oncologist. 2021 Jun;26(6):e908-e912. doi: 10.1002/onco.13745. Epub 2021 Mar 26.
Identifying the druggable target is crucial for patients with nonsquamous advanced non-small cell lung cancer (NSCLC). This article adds to the spectrum of ROS1 fusion cases described in NSCLC. We describe a novel SLC12A2-ROS1 rearrangement that has not been previously reported in other cancers: a fusion that has clinical and radiological sensitivity to crizotinib. Fluorescence in situ hybridization detected the SLC12A2-ROS1 fusion and it was confirmed through hybrid capture-based next-generation sequencing (NGS); however, the fusion could not be detected by amplicon-based assay. The success of implementing NGS into routine clinical practice depends on the accuracy of testing. The test's methodological features should then be considered because they significantly affect the results. Given this patient's response to crizotinib, identifying patients with undescribed ROS1 fusions has important therapeutic implications. KEY POINTS: This is the first known description of an SLC12A2-ROS1 fusion. Considering the patient's clinical features and tumor response observed after crizotinib therapy, the authors confirm that this new rearrangement has relevant clinical impact for patients with non-small cell lung cancer. The success of implementing next-generation sequencing (NGS) into routine clinical practice depends on the accuracy of the testing. Different assays and NGS platforms can achieve differing results. Each assay's limitations need to be considered to ensure the quality of precision medicine in clinical practice.
确定可用药靶对于非鳞状晚期非小细胞肺癌(NSCLC)患者至关重要。本文增加了 NSCLC 中描述的 ROS1 融合病例谱。我们描述了一种新型 SLC12A2-ROS1 重排,以前在其他癌症中没有报道过:一种对克唑替尼具有临床和放射学敏感性的融合。荧光原位杂交检测到 SLC12A2-ROS1 融合,并通过基于杂交捕获的下一代测序(NGS)进行了确认;然而,基于扩增子的检测方法无法检测到融合。将 NGS 成功应用于常规临床实践取决于测试的准确性。然后应该考虑测试的方法学特征,因为它们会显著影响结果。鉴于该患者对克唑替尼的反应,鉴定出具有未描述的 ROS1 融合的患者具有重要的治疗意义。
这是首次描述 SLC12A2-ROS1 融合。考虑到患者的临床特征和克唑替尼治疗后观察到的肿瘤反应,作者证实这种新的重排对非小细胞肺癌患者具有重要的临床影响。将下一代测序(NGS)成功应用于常规临床实践取决于测试的准确性。不同的检测方法和 NGS 平台可能会产生不同的结果。需要考虑每个检测方法的局限性,以确保在临床实践中实现精准医学的质量。