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Global cancer statistics.全球癌症统计数据。
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Relationship between EGFR expression, copy number and mutation in lung adenocarcinomas.肺腺癌中 EGFR 表达、拷贝数与突变的关系。
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[表皮生长因子受体(EGFR)突变与肺腺癌病理分类及标本的关系]

[Relationship between EGFR Mutations and Pathological Classification and 
Specimen of Lung Adenocarcinoma].

作者信息

Kang Lifei, Zheng Jie, Zhu Xiang

机构信息

Department of Pathology, Peking University, Beijing 100191, China;Department of Pathology, Hebei Chest Hospital, Shijiazhuang 050041, China.

Department of Pathology, Peking University, Beijing 100191, China.

出版信息

Zhongguo Fei Ai Za Zhi. 2017 Jun 20;20(6):382-388. doi: 10.3779/j.issn.1009-3419.2017.06.03.

DOI:10.3779/j.issn.1009-3419.2017.06.03
PMID:28641695
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5973361/
Abstract

BACKGROUND

With the development of genetic mutations and targeted drugs, accurate therapy of lung adenocarcinoma attracts much more attention, and more research is focued on epidermal growth factor receptor (EGFR). It is unclear whether the result of EGFR mutation and pathology type is consistent with different specimens. In our study, by comparing the relationship between EGFR mutations and pathological classification of lung adenocarcinoma in surgical resection of specimen and biopsy specimen, to discuss the relationship between EGFR mutations and pathological classification of and the influence of specimen type on EGFR gene detection.

METHODS

A total of 163 cases of surgical resection of sample of lung adenocarcinoma (pulmonary resection and pulmonary lobectomy) and 173 cases of biopsy specimen [mucosa biopsy, needle biopsy of lung, and endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA)] were performed by gene sequencing method and amplification refractory mutation system (ARMS) and the majority of the type was confirmed (lepidic, acinar, papillary, micropapillary, solid) according to the classification of lung adenocarcinoma in 2015 World Health Organization (WHO). The statistics was used in surgical and biopsy sample respectively.

RESULTS

The gene mutation of EGFR in surgical and biopsy sample of lung adenocarcinoma was 62.58% (102/163) and 65.9% (114/173) respectively, and no significant difference was found (P>0.05). The mutation of EGFR in female was predominant both of the two groups (P<0.05). The mutation rate of EGFR over the age of 60 was significantly lower than that below 60 in surgical specimen, while it was not related to age in biopsy sample. The constituent ratio of pathology type was different in the two groups (χ2=8.04, P<0.05). Among 102 cases of lung adenocarcinoma in surgical specimen, the acinar took up the highest proportion (54.9%), followed by the lepidic (23.53%) and the papillary (17.65%). The solid adenocarcinoma accounted for the minimal percentage (3.9%). The mutation of 19 and 21 exon alone was most common. The mutation rate of 21 exon in the lepidic was higher than that in the acinar and papillary (P<0.05), but the mutation rate of 19 exon in the papillary was higher than that in the lepidic (P<0.05). There was no significant difference of 19 and 21 exon in the acinar and papillary. Among 114 cases of lung adenocarcinoma in the biopsy specimen, the most percentage was the acinar (48.25%), the lepidic was secondly, and the papillary, micropapillary and solid adenocarcinoma was the minimal. The exon mutation of 19 and 21 exon alone was most common, while no obvious difference of 19 and 21 exon was found in different pathology classifications (P>0.05).

CONCLUSIONS

The mutation rate of EGFR of lung adenocarcinoma in surgical resected specimen and biopsy specimen was not found difference, which was related to sex, and the female was predominant. The mutation rate of surgical specimen was higher in the young, while that of biopsy specimen was not related to the age. Apparent difference of the pathology type proportion was found in the two groups. The mutation of 19 and 21 exon alone was most common. The mutation of EGFR in surgical specimens was related to pathology types. The percentage of the lepidic adenocarcinoma was highest in the mutation of 21 exon alone. Among the mutation of 19 exon alone, the papillary was predominant. There was no obvious relationship between the mutation of 19 and 21 exon alone and pathology type in biopsy sample.

摘要

背景

随着基因突变和靶向药物的发展,肺腺癌的精准治疗备受关注,更多研究聚焦于表皮生长因子受体(EGFR)。目前尚不清楚不同标本中EGFR突变结果与病理类型是否一致。本研究通过比较手术切除标本和活检标本中肺腺癌EGFR突变与病理分类的关系,探讨EGFR突变与病理分类之间的关系以及标本类型对EGFR基因检测的影响。

方法

采用基因测序法和扩增阻滞突变系统(ARMS)对163例肺腺癌手术切除标本(肺叶切除和肺段切除)和173例活检标本[黏膜活检、肺穿刺活检及超声支气管镜引导下经支气管针吸活检(EBUS-TBNA)]进行检测,并根据2015年世界卫生组织(WHO)肺腺癌分类标准确定大部分类型(鳞屑状、腺泡状、乳头状、微乳头状、实体状)。分别对手术标本和活检标本进行统计分析。

结果

肺腺癌手术标本和活检标本中EGFR基因突变率分别为62.58%(102/163)和65.9%(114/173),差异无统计学意义(P>0.05)。两组中女性EGFR突变均占优势(P<0.05)。手术标本中60岁以上患者EGFR突变率显著低于60岁以下患者,而活检标本中EGFR突变率与年龄无关。两组病理类型构成比不同(χ2=8.04,P<0.05)。手术标本中102例肺腺癌患者,腺泡状所占比例最高(54.9%),其次为鳞屑状(23.53%)和乳头状(17.65%),实体腺癌占比最小(3.9%)。单独19外显子和21外显子突变最为常见。鳞屑状腺癌中21外显子突变率高于腺泡状和乳头状腺癌(P<0.05),但乳头状腺癌中19外显子突变率高于鳞屑状腺癌(P<0.05)。腺泡状和乳头状腺癌中19外显子和21外显子突变率差异无统计学意义。活检标本中114例肺腺癌患者,腺泡状所占比例最高(48.25%),其次为鳞屑状,乳头状、微乳头状和实体腺癌占比最小。单独19外显子和21外显子突变最为常见,不同病理分类中19外显子和21外显子突变无明显差异(P>0.05)。

结论

肺腺癌手术切除标本和活检标本中EGFR突变率无差异,与性别有关,女性占优势。手术标本中年轻人突变率较高,而活检标本中突变率与年龄无关。两组病理类型比例存在明显差异。单独19外显子和21外显子突变最为常见。手术标本中EGFR突变与病理类型有关。单独21外显子突变中鳞屑状腺癌所占比例最高。单独19外显子突变中乳头状腺癌占优势。活检标本中单独19外显子和21外显子突变与病理类型无明显关系。