目的: 准确的间变性淋巴瘤激酶(anaplastic lymphoma kinase, ALK)重排检测在非小细胞肺癌(non-small cell lung cancer, NSCLC)患者ALK抑制剂(anaplastic lymphoma kinase tyrosine kinase inhibitors, ALK-TKI)靶向治疗中至关重要。目前,医院实验室所使用的检测方法有基于逆转录PCR(reverse transcription-PCR, RT-PCR)、荧光原位杂交(fluorescence in situ hybridization, FISH)和二代测序(next generation sequencing, NGS)。本文评估了三种方法检测ALK重排的性能,为ALK的精确检测提供理论支持。方法: 选取38例ALK阳性患者,分别用RT-PCR、FISH和NGS对样本进行ALK重排检测,评估三种方法在ALK检测中的一致性。再分别分析这三种ALK方法与ALK-TKI治疗效果的一致性。结果: 分别用RT-PCR、FISH和NGS方法检测38例得到的ALK重排阳性率分别是89.47%、86.84%和97.37%,其中,NGS检测出3例罕见ALK重排。RT-PCR与FISH方法在检查ALK重排结果有较强的一致性(Kappa=0.623,P＜0.05);NGS与RT-PCR、FISH检测ALK重排没有一致性(Kappa=-0.044和0.303)。该三组方法定义的ALK阳性病例经ALK-TKI治疗22个月的存活数,统计分析结果显示差异无统计学意义(P＞0.05)。结论: 与RT-PCR和FISH相比,NGS方法显示出更高的阳性检出率,特别是在罕见的ALK重排中具有更强的检测能力,因此,本研究倡导在实验条件满足的情况下采用NGS来检测ALK重排,能有效提升NSCLC患者的治疗效果和预后评估。
岳林
,
白雪峰
,
项鹏程
,
虞飞
,
白建辉
,
冯立文
,
高洋
,
武小燕
,
刘恩
,
丁海麦
,
王焱宏
. NGS、RT-PCR和FISH在非小细胞肺癌ALK检测中的比较研究[J]. 包头医学院学报, 2025
, 41(10)
: 71
-76
.
DOI: 10.16833/j.cnki.jbmc.2025.10.014
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.
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