YUE Lin, BAI Xuefeng, XIANG Pengcheng, YU Fei, BAI Jianhui, FENG Liwen, GAO Yang, WU Xiaoyan, LIU En, DING Haimai, WANG Yanhong
Objective: Accurate detection of anaplastic lymphoma kinase (ALK) rearrangement is crucial for ALK inhibitor (ALK-TKI) targeted therapy in non-small cell lung cancer (NSCLC) patients. Currently, the methods used in hospital laboratories include reverse transcription PCR (RT-PCR), fluorescence in situ hybridization (FISH), and the next generation sequencing (NGS). In this study, we evaluated the performance of the three methods in detecting ALK rearrangements to provide theoretical support for precise diagnosis of ALK. Methods: This study selected 38 ALK-positive patients and used RT-PCR, FISH, and NGS to detect ALK rearrangements in the samples. The consistency of the three methods in ALK detection was evaluated. Then, the consistency between these three ALK methods and the therapeutic effects of ALK-TKI will be analyzed separately. Results: The positive rates of ALK rearrangement detected by RT-PCR, FISH, and NGS were 89.47%, 86.84%, and 97.37%, respectively, among the 38 cases. Among them, NGS detected 3 rare ALK rearrangements. The consistency of RT-PCR and FISH in detecting ALK rearrangement was strong (Kappa=0.623, P＜0.05). However, there was no consistency between NGS and RT-PCR or FISH in detecting ALK rearrangement (Kappa=-0.044 and 0.303). The survival numbers of ALK-positive cases defined by the three methods after 22 months of ALK-TKI treatment were statistically analyzed, and the results showed no significant difference (P＞0.05). Conclusion: Compared with RT-PCR and FISH, the NGS method shows a higher positive detection rate, especially in rare ALK rearrangements, where it has a stronger detection capability. Therefore, this study advocates the use of NGS to detect ALK rearrangements when the experimental conditions are met, which can effectively improve the treatment outcome and prognosis assessment of NSCLC patients.
