ALK ALK FUSION F1245C

在成神经细胞瘤中，F1245是三个高频率发现的热点ALK突变之一。在一个案例研究中，一个EML4-ALK F1245C突变的预处理非小细胞肺癌（NSCLC）患者在环唑替尼治疗过程中，在疾病进展缓慢后，对铈替尼的反应良好。尽管在环唑替尼治疗前并未对alk重排进行测序，但环唑替尼的耐药性归因于F1245C突变。患者在环唑替尼治疗期间疾病进展缓慢，反映了临床前的发现，表明与单纯融合相比，与F1245C融合的ALK对环唑替尼具有中度抵抗力。
In neuroblastoma, F1245 is one of three hotspot ALK mutations found at a high frequency. In a case study, a pretreated non-small cell lung cancer (NSCLC) patient with EML4-ALK F1245C mutation responded well to ceritinib after slow disease progression during crizotinib treatment. Crizotinib resistance was attributed to the F1245C mutation, although the ALK-rearrangement was not sequenced prior to crizotinib treatment. The patient's slow onset of disease progression during crizotinib treatment mirrors preclinical findings that indicate ALK-fusion with F1245C has moderate resistance to crizotinib compared to the fusion alone.