| 韩亚青,高茂钢,王世泽.同期多灶性肺部磨玻璃结节患者基因突变的相关性研究[J].中国肿瘤,2021,30(12):942-946. |
| 同期多灶性肺部磨玻璃结节患者基因突变的相关性研究 |
| Gene Mutations in Synchronous Multiple Lung Ground Glass Nodules |
| 中文关键词 修订日期：2021-09-26 |
| DOI：10.11735/j.issn.1004-0242.2021.12.A010 |
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| 中文关键词: 非小细胞肺癌 同期多灶性肺磨玻璃结节 第二代基因测序 驱动基因突变 肿瘤异质性 |
| 英文关键词:non-small cell lung cancer synchronous multiple ground glass nodules next generation sequencing driver gene mutation tumor heterogeneity |
| 基金项目:2019年政府资助临床医学优秀人才培养项目计划［冀财社（2019）139号］；河北省卫生健康委员会医学科学研究课题(20201076) |
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| 中文摘要: |
| 摘 要：［目的］ 研究同期多灶性肺磨玻璃结节（synchronous multiple ground glass nodules，SMGGNs）患者的肺癌相关驱动基因的表达及其与临床特征的关系，并从分子生物学角度探索肺部多原发磨玻璃结节的起源。［方法］ 回顾性分析2018年1月至2020年10月河北医科大学第四医院胸外科收治并行手术治疗，术后病理诊断为肺腺癌或癌前病变的43例SMGGNs患者的临床病理资料。应用第二代基因测序（next generation sequencing，NGS）技术对手术切除的全部标本进行16个肺癌驱动基因位点的检测，分析基因的突变状态与临床特征的关系。［结果］ 入组43例患者，共计手术切除111枚肺部结节。病理学分型：18枚非典型腺瘤样增生（atypical adenomatous hyperplasia，AAH），28枚原位腺癌（adenocarcinoma in situ，AIS），25枚微浸润性腺癌（microinvasive adenocarcinoma，MIA）和 40枚浸润性腺癌（invasive adenocarcinoma，IAC）。79.1%（34/43）的患者中的66枚结节具有肺癌相关驱动基因突变。其中42枚为EGFR突变（15枚Ex19Del缺失，22枚21-L858R突变，3枚20号外显子框内插入突变和2枚E18G719X突变），2枚EML4-ALK 融合，2枚NRAS 突变，2枚PIK3CA融合，4枚MET14号外显子可剪切突变，3枚RET17错义突变，7枚KRAS 突变，2枚 ROS1 融合，1 枚 BRAF突变，1枚ESR1突变。未发现同一组织中存在多种基因突变。［结论］ SMGGNs的驱动基因突变状态差异较大，各结节可能来自不同的起源，为多个原发病灶，而非某一病灶的多发转移。手术切除是SMGGNs疗效比较好的治疗方法。 |
| 英文摘要: |
| Abstract： ［Purpose］ To investigate the mutations of driving genes related in synchronous multiple ground-glass nodules(SMGGNs) of the lung and its relationship with clinical characteristics. ［Methods］ The clinical data of 43 patients with SMGGNs admitted to the Department of Thoracic Surgery of the Fourth Hospital of Hebei Medical University from January 2018 to October 2020 were retrospectively analyzed. The surgically resected specimens were examined with next generation sequencing(NGS) technique， and 16 lung cancer-driving gene loci were detected. The relationship between gene mutations and clinical characteristics was analyzed. ［Results］ A total of 111 pulmonary nodules were surgically resected from 43 patients. Among 111 nodules， atypical adenomatous hyperplasia(AAH) was pathologically confirmed in 18 nodules， adenocarcinomas in situ(AIS) in 28， microinvasive adenocarcinoma(MIA) in 25， and invasive adenocarcinoma(IAC) in 40. Sixty-six nodules in 34 patients(79.1%) had lung cancer-related driver gene mutations. Among them， EGFR mutations(15 with Ex19Del deletions， 22 with 21-L858R mutations， 3 with 20 exon-frame insertions， and 2 with E18G719X mutations) were detected in 42 nodules， EML4-ALK fusion in 2， NRAS mutation in 2， PIK3CA fusion in 2， applicable MET14 exon mutations in 4， RET17 missense mutations in 3， KRAS mutations in 7， ROS1 fusion in 2， BRAF mutation in 1， and ESR1 mutation in 1. Multiple gene mutations were not found in the same tissue specimens. ［Conclusion］ The mutation status of the driver genes in SMGGNs varies greatly， and the nodules may come from different origins and be multiple primary lesions rather than multiple metastases of one lesion. Surgical excision is an effective treatment for SMGGNs patients. |
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