ROS1 rearrangements are found in 1–2% of patients with non-small-cell lung cancer. The detection of the rearrangements is crucial since clinically effective molecular targeted drugs are available for them. We present a case of lung adenocarcinoma with a previously unknown ROS1-CD74 fusion variant, CD74 exon 3 fused to ROS1 exon 34, which was not detected by a conventional RT-PCR-based test for ROS1 fusion gene detection but identified by hybrid capture-based next-generation sequencing. This tumor responded to crizotinib initially and to entrectinib after relapse with brain metastasis, indicating the oncogenic activity of this novel fusion variant.

中文翻译：

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综合基因组分析鉴定出对克唑替尼和恩曲替尼有反应的新型 CD74-ROS1 融合变体的肺腺癌病例

在 1-2% 的非小细胞肺癌患者中发现ROS1重排。重排的检测至关重要，因为临床上有效的分子靶向药物可供它们使用。我们提出了一例肺腺癌病例，该病例具有以前未知的ROS1 - CD74融合变体，CD74外显子 3 与ROS1外显子 34 融合，这不是通过传统的基于 RT-PCR 的ROS1融合基因检测检测而是通过杂交捕获鉴定的。基于二代测序。该肿瘤最初对克唑替尼有反应，在脑转移复发后对恩曲替尼有反应，表明这种新型融合变体的致癌活性。