Gene rearrangements, such as anaplastic lymphoma kinase ( ALK ), c-ros oncogene 1 receptor tyrosine kinase ( ROS1 ), rearranged during transfection ( RET ) and neurotrophic receptor tyrosine kinase 1 ( NTRK1 ), identified in cancer have been indicated to be robust therapeutic targets in lung carcinomas. However, a few studies have focussed on locally advanced rectal cancer (LARC). The discovery of novel gene fusions is also valuable for LARC research. We used mass spectrometry-based assays and RNA sequencing to detect both known ALK , ROS1 , RET and NTRK1 rearrangements and novel gene fusions in LARC patients. FusionMap was also used to find gene fusions. None of the ALK , ROS1 , RET or NTRK1 gene fusions were detected by mass spectrometry-based assays or RNA sequencing. Three fusion candidates, integrin subunit beta 7 ( ITGB7 )- ROS1 , lamin A/C ( LMNA )- NTRK1 and Golgi-associated PDZ and coiled-coil motif containing ( GOPC )-keratin 8 ( KRT8 ), showed relatively high junction-spanning reads by the FusionMap algorithm, but did not pass validation. These results suggest that no ALK , ROS1 or RET rearrangements were found in LARC.

中文翻译：

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局部晚期直肠癌中ALK、ROS1和RET重排的综合分析

基因重排，如间变性淋巴瘤激酶 (ALK)、c-ros 癌基因 1 受体酪氨酸激酶 (ROS1)、在转染过程中重排 (RET) 和神经营养受体酪氨酸激酶 1 (NTRK1)，已表明在癌症中具有强大的治疗作用肺癌的靶点。然而，一些研究集中在局部晚期直肠癌 (LARC) 上。新基因融合的发现对 LARC 研究也很有价值。我们使用基于质谱的分析和 RNA 测序来检测 LARC 患者中已知的 ALK、ROS1、RET 和 NTRK1 重排和新基因融合。FusionMap 也被用于寻找基因融合。ALK、ROS1、RET 或 NTRK1 基因融合均未通过基于质谱的分析或 RNA 测序检测到。三个融合候选物，整合素亚基β7 (ITGB7)-ROS1，lamin A/C (LMNA)-NTRK1 和高尔基体相关的 PDZ 以及包含 (GOPC)-角蛋白 8 (KRT8) 的卷曲线圈基序，通过 FusionMap 算法显示出相对较高的跨接点读数，但未通过验证。这些结果表明在 LARC 中没有发现 ALK、ROS1 或 RET 重排。