Division of Pulmonary Medicine, Department of Medicine, Keiyu Hospital, Yokohama, Japan.
Department of Respiratory Medicine, Kitasato University School of Medicine, Sagamihara, Japan.
Thorac Cancer. 2021 Sep;12(18):2504-2507. doi: 10.1111/1759-7714.14093. Epub 2021 Jul 28.
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.
ROS1 重排存在于 1-2%的非小细胞肺癌患者中。由于存在针对这些重排的临床有效的分子靶向药物，因此检测这些重排至关重要。我们报告了一例肺腺癌病例，其具有先前未知的 ROS1-CD74 融合变异体，即 CD74 外显子 3 与 ROS1 外显子 34 融合，该变异体不能通过常规基于 RT-PCR 的 ROS1 融合基因检测方法检测到，但可通过基于杂交捕获的下一代测序方法检测到。该肿瘤最初对克唑替尼有反应，在发生脑转移的复发后对恩曲替尼有反应，表明该新型融合变异体具有致癌活性。
