非小细胞肺癌患者经TBNA获取小标本的EGFR基因突变检测及其临床意义
发布时间：2018-07-14 10:43
【摘要】：目的：了解通过探针扩增阻滞突变系统(ARMS)法检测非小细胞肺癌患者(NSCLC)经支气管针吸活检术(TBNA)获取的小标本的表皮生长因子受体(EGFR)基因突变的可行性及其临床意义。方法：收集2013年2月至2015年1月就诊于苏州大学附属第一医院,通过常规经支气管针吸活检术(C-TBNA)和(或)经支气管超声引导针吸活检术(EBUS-TBNA)获取的小标本(包括细胞学包埋标本和组织条小标本),其最终病理诊断为NSCLC的30例患者资料。所有患者的TBNA细胞学标本,经液基细胞液处理,再用福尔马林固定,成为TBNA细胞学包埋标本；TBNA组织条小标本则直接福尔马林固定,按组织学标本的方法,进行常规的石蜡包埋,均制成石蜡包块。TBNA石蜡包块标本用显微切割技术获取足够的肿瘤组织细胞,采用QIAamp DNA提取试剂盒提取基因组DNA,通过ARMS法检测标本的EGFR基因突变情况。结果：30例NSCLC患者的TBNA获取的小标本应用ARMS法行EGFR基因突变检测,有13例存在EGFR基因突变,突变率为43.3%。其中发现7例为19外显子缺失突变,5例为21外显子点突变,1例TBNA细胞学包埋标本为19/21复合突变,而其TBNA组织条小标本为21外显子点突变。其中女性EGFR突变率明显高于男性,且具有统计学差异。而非吸烟者突变率高于吸烟者,腺癌分别与鳞癌及腺鳞癌之间EGFR突变率比较,差异均无统计学意义。5例NSCLC患者同时获取TBNA细胞学包埋标本及组织条小标本进行EGFR基因检测,结果2例TBNA细胞学包埋标本检测出突变,3例野生型。同样,TBNA组织条小标本检测到2例突变,3例野生型。但其中1例患者虽TBNA细胞学包埋标本和组织条小标本均检测到突变,但突变类型不完全一样。部分TBNA小标本分别与相应大病理组织学标本的EGFR检测结果对照,EGFR突变检测结果的符合率为83.3%。其中1例患者TBNA组织条小标本检测到突变,而大病理组织学标本为野生型。结论：1、TBNA的细胞学标本经特殊处理后可以成为合格的EGFR检测标本。2、使用ARMS法检测NSCLC患者的TBNA小标本(经特殊处理的细胞学包埋标本及组织条小标本)的EGFR基因突变是可行的,有临床推广价值。3、TBNA细胞学包埋标本EGFR基因突变检测结果与组织标本的检测结果具有一致性。
[Abstract]:Objective: to investigate the feasibility and clinical significance of detection of epidermal growth factor receptor (EGFR) gene mutation in small specimens obtained from non-small cell lung cancer (NSCLC) patients with non-small cell lung cancer (NSCLC) by means of probe amplification block mutation system (ARMS). Methods: from February 2013 to January 2015, they were admitted to the first affiliated Hospital of Suzhou University. 30 cases of NSCLC were pathologically diagnosed by conventional transbronchial needle aspiration biopsy (C-TBNA) and / or transbronchial ultrasound guided needle aspiration biopsy (EBUS-TBNA). TBNA cytological specimens of all patients were treated with liquid based cell fluid and then fixed with formalin. The samples were made into paraffin lumps. TBNA paraffin lumps were used to obtain enough tumor tissue cells by microdissection. The genomic DNA was extracted by QIAamp DNA extraction kit. The EGFR gene mutation was detected by ARMS. Results EGFR gene mutation was detected by ARMS in TBNA of 30 NSCLC patients. EGFR gene mutation was found in 13 cases (43.33%). Among them, 7 cases were exon 19 deletion mutations and 5 cases were 21 exon point mutations. One TBNA cytologically embedded sample was 19 / 21 compound mutation, while its TBNA tissue strip small sample was exon 21 point mutation. The mutation rate of EGFR in female was significantly higher than that in male, and there was statistical difference. However, the mutation rate of EGFR in non-smokers was higher than that in smokers. There was no significant difference in EGFR mutation rate among adenocarcinoma, squamous cell carcinoma and adenosquamous carcinoma. There was no significant difference in EGFR gene between adenocarcinoma, squamous cell carcinoma and adenosquamous carcinoma. TBNA cytologically embedded specimens and small tissue strips were obtained from NSCLC patients at the same time to detect EGFR gene. Results 3 cases of wild type were detected in 2 TBNA embedded specimens. In the same TBNA tissue strip, 2 cases of mutation and 3 cases of wild type were detected. But in one patient, mutations were detected in both TBNA cytological embedded specimens and tissue strips, but the mutation types were not identical. The coincidence rate of EGFR mutation detection between some small TBNA specimens and the corresponding large histopathological specimens was 83.3%. Mutations were detected in one of the TBNA tissue strips and wild type in the large histopathological specimens. Conclusion the cytological specimens of TBNA can be qualified EGFR samples after special treatment. It is feasible to detect EGFR gene mutations in TBNA small specimens (specially treated cytological embedded specimens and tissue strips) by using ARMS method in NSCLC patients. The results of EGFR gene mutation detection in TBNA cytological embedded specimens were consistent with those of tissue samples.
【学位授予单位】：苏州大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R734.2
本文编号：2121392
[Abstract]:Objective: to investigate the feasibility and clinical significance of detection of epidermal growth factor receptor (EGFR) gene mutation in small specimens obtained from non-small cell lung cancer (NSCLC) patients with non-small cell lung cancer (NSCLC) by means of probe amplification block mutation system (ARMS). Methods: from February 2013 to January 2015, they were admitted to the first affiliated Hospital of Suzhou University. 30 cases of NSCLC were pathologically diagnosed by conventional transbronchial needle aspiration biopsy (C-TBNA) and / or transbronchial ultrasound guided needle aspiration biopsy (EBUS-TBNA). TBNA cytological specimens of all patients were treated with liquid based cell fluid and then fixed with formalin. The samples were made into paraffin lumps. TBNA paraffin lumps were used to obtain enough tumor tissue cells by microdissection. The genomic DNA was extracted by QIAamp DNA extraction kit. The EGFR gene mutation was detected by ARMS. Results EGFR gene mutation was detected by ARMS in TBNA of 30 NSCLC patients. EGFR gene mutation was found in 13 cases (43.33%). Among them, 7 cases were exon 19 deletion mutations and 5 cases were 21 exon point mutations. One TBNA cytologically embedded sample was 19 / 21 compound mutation, while its TBNA tissue strip small sample was exon 21 point mutation. The mutation rate of EGFR in female was significantly higher than that in male, and there was statistical difference. However, the mutation rate of EGFR in non-smokers was higher than that in smokers. There was no significant difference in EGFR mutation rate among adenocarcinoma, squamous cell carcinoma and adenosquamous carcinoma. There was no significant difference in EGFR gene between adenocarcinoma, squamous cell carcinoma and adenosquamous carcinoma. TBNA cytologically embedded specimens and small tissue strips were obtained from NSCLC patients at the same time to detect EGFR gene. Results 3 cases of wild type were detected in 2 TBNA embedded specimens. In the same TBNA tissue strip, 2 cases of mutation and 3 cases of wild type were detected. But in one patient, mutations were detected in both TBNA cytological embedded specimens and tissue strips, but the mutation types were not identical. The coincidence rate of EGFR mutation detection between some small TBNA specimens and the corresponding large histopathological specimens was 83.3%. Mutations were detected in one of the TBNA tissue strips and wild type in the large histopathological specimens. Conclusion the cytological specimens of TBNA can be qualified EGFR samples after special treatment. It is feasible to detect EGFR gene mutations in TBNA small specimens (specially treated cytological embedded specimens and tissue strips) by using ARMS method in NSCLC patients. The results of EGFR gene mutation detection in TBNA cytological embedded specimens were consistent with those of tissue samples.
【学位授予单位】：苏州大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R734.2
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