Case Study|Rip gene discovers new pathogenesis of lung cancer

Lung cancer is the most common malignancy worldwide. According to statistics, in 2015, the number of new cases of lung cancer and deaths in China were 733,300 and 610,200, respectively, which is the highest malignant tumor with the highest morbidity and mortality in China. About 80% to 85% of lung cancer patients are non-small cell lung cancer (NSCLC). The pathogenesis of NSCLC includes EGFR mutation, ALK fusion, ROS1 fusion and other driving mechanisms. Elucidation of the pathogenesis of lung cancer is conducive to the precise treatment of patients, such as patients with EGFR activating mutations have a good effect on targeted drugs such as Kamena.

 

Hangzhou Ruipu Gene Technology Co., Ltd. cooperated with the Chinese Academy of Medical Sciences to reveal a new pathogenesis of NSCLC. An undisclosed gene fusion, WNK1-ROS1 (see figure below), was discovered in a 39-year-old female adenocarcinoma by Rip's second-generation sequencing (NGS) platform and validated with a generation of sequencing platforms. Rip's NGS test showed that the patient did not have known lung cancer-driven mutations such as EGFR, ALK, MET, KRAS, etc., indicating that WNK1-ROS1 is the pathogenesis of lung cancer in this case.

According to Rip's test results, the patient used the targeted drug crizotinib for ROS1; after 3 months, the patient's tumor was significantly reduced (compared to Figure A and B below; A is before administration, B is 3 drugs) After the month).

After 5 months of treatment, the patient developed resistance. Rip detected the ROS1 G2032R mutation in the patient's plasma by NGS (see figure below), which is a classic crizotinib-resistant mutation. The fusion with WNK1-ROS1 is a new pathogenic mechanism hypothesis of NSCLC. Match. The patients in this case were relatively young, did not smoke, and were consistent with the clinicopathological features of ROS1 fusion.

The paper covering the study was officially submitted to Lung Cancer magazine at the end of October this year. It was accepted in mid-December and is now published online. The title of the paper is "Identification of a novel WNK1 - ROS1 fusion in a lung adenocarcinoma sensitive to crizotinib". Hangzhou Ruipu Gene Technology Co., Ltd. is the communication author of the paper. Rip will dig deeper into the accurate detection data, let the precision medical results serve more patients and clinicians, and promote the development of precision medicine, the future can be expected!