Objective:

NTRK mutations and clinicopathological factors in patients with lung cancer in northeast China were analyzed by next-generation sequencing (NGS), and references were provided for patients with NTRK mutations undergoing targeted therapy in northeast China.

Methods:

A total of 224 specimens in 173 patients with lung cancer were collected. This included 51 patients with matched 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%). Among the 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 was detected in one patient, and NTRK copy number deletion was detected in the other; and NTRK wild type was detected in 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 mutation in lung cancer was evident in 50% of patients. The results of NTRK were inconsistent with matched tissues and whole blood. Therefore, patients with NTRK mutation should use a variety of specimen types and large target area sequencing (panel) analysis method to provide individualized treatment.

中文翻译：

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东北地区肺癌患者NTRK突变及临床病理因素分析[J].

客观的：

通过二代测序（NGS）分析东北地区肺癌患者的NTRK突变及临床病理因素，为东北地区接受靶向治疗的NTRK突变患者提供参考。

方法：

共收集了173例肺癌患者的224份标本。这包括 51 名具有匹配组织和全血样本的患者、133 份组织样本、84 份全血样本和 7 份胸腔积液样本。NGS（520个基因）用于检测NTRK突变和临床病理因素。

结果：

8名患者（8/173, 4.6%）检测到NTRK突变，包括4个NTRK错义突变（4/173, 2.3%）、2个NTRK融合基因突变（2/173, 1.2%）和2个NTRK拷贝数缺失(2/173, 1.2%)。8 例 NTRK 突变患者中，4 例与肺癌驱动基因突变相关（3/4 EGFR，1/4ALK）；两名患者的 NTRK 在组织和配对全血检测中不一致；一名患者检测到NTRK错义突变，另一名患者检测到NTRK拷贝数缺失；在两名患者中检测到 NTRK 野生型。NTRK突变与临床病理因素（包括性别、年龄、病理类型、吸烟状况、转移部位）无相关性。

结论：

NTRK突变仅为4.6%，有效融合基因突变为1.2%，50%的患者存在肺癌常见驱动基因突变。NTRK的结果与匹配的组织和全血不一致。因此，NTRK突变患者应采用多种标本类型和大靶区测序（panel）分析方法，提供个体化治疗。