A Case of EML4-ALK Fusion V1 Subtype Lung Adenocarcinoma Detected by RNA-based NGS
Yue XU, Ning MU, Mei LIU, Shengnan WU, Chunhua MA
TL;DR
This paper reports a case where RNA-based NGS detected an EML4-ALK fusion in lung adenocarcinoma that DNA-based NGS missed.
Contribution
Highlights the superior detection capability of RNA-based NGS over DNA-based methods for ALK fusion in lung cancer.
Findings
RNA-based NGS confirmed EML4-ALK fusion positivity in a lung adenocarcinoma case.
DNA-based NGS returned a false negative for the same fusion.
The case underscores the importance of RNA-based methods for accurate fusion detection.
Abstract
肺癌是全球发病率和死亡率最高的恶性肿瘤。对于肺腺癌而言，识别特定的基因突变并给予相应靶向药物可大大提高患者的生存时间。其中，间变性淋巴瘤激酶（anaplastic lymphoma kinase, ALK）融合发生在3%-7%的非小细胞肺癌（non-small cell lung cancer, NSCLC）中。在临床中，多种检测方法可应用于判断ALK融合状态，但存在检测结果假阴性可能。本文回顾性分析1例肺腺癌患者的诊治经过，经多种检测方式判断ALK融合状态，其中，免疫组化（immunohistochemistry, IHC）（Ventana D5F3）、基于RNA的下一代测序（RNA-based next-generation sequencing, RNA-based NGS）检测证实棘皮类微管关联蛋白样4（echinoderm microtubule associated protein like 4, EML4）-ALK融合阳性，而基于DNA的NGS（DNA-based NGS）检测为阴性。本文比较分析判断ALK融合的检测方法，以明确在不同临床案例中选择何种检测方式最准确、最简便，以便于指导后续治疗。
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Taxonomy
TopicsRNA modifications and cancer · Lung Cancer Treatments and Mutations