Objective: NTRK mutations and clinicopathological factors in patients with lung cancer in northeast China wereanalyzed by next-generation sequencing (NGS), and references were provided for patients with NTRK mutationsundergoing targeted therapy in northeast China.Methods: A total of 224 specimens in 173 patients with lung cancer were collected. This included 51 patients withmatched tissue and whole blood samples,133 tissue samples, 84 whole blood samples, and 7 pleural effusion samples.NGS (520 genes) was used to detected NTRK mutations and clinicopathologic factors.Results: NTRK mutation was detected in eight patients (8/173, 4.6%), including four NTRK missense mutations (4/173,2.3%), two NTRK fusion gene mutations (2/173, 1.2%), and two NTRK copy number deletions (2/173, 1.2%). Amongthe eight patients with NTRK mutations, four were associated with lung cancer driver gene mutations (3/4 EGFR,1/4ALK); NTRK in two patients was inconsistent in tissue and paired whole blood testing; NTRK missense mutation wasdetected in one patient, and NTRK copy number deletion was detected in the other; and NTRK wild type was detectedin two patients. There was no correlation between NTRK mutation and clinicopathologic factors (including gender, age,pathological type, smoking status, metastasis site).Conclusion: NTRK mutation was only 4.6%, effective fusion gene mutation was 1.2%, and common driver gene mutationin lung cancer was evident in 50% of patients. The results of NTRK were inconsistent with matched tissues and wholeblood. Therefore, patients with NTRK mutation should use a variety of specimen types and large target area sequencing(panel) analysis method to provide individualized treatment.
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