非小細胞肺癌患者經(jīng)TBNA獲取小標本的EGFR基因突變檢測及其臨床意義
發(fā)布時間：2018-07-14 10:43
【摘要】：目的：了解通過探針擴增阻滯突變系統(tǒng)(ARMS)法檢測非小細胞肺癌患者(NSCLC)經(jīng)支氣管針吸活檢術(shù)(TBNA)獲取的小標本的表皮生長因子受體(EGFR)基因突變的可行性及其臨床意義。方法：收集2013年2月至2015年1月就診于蘇州大學附屬第一醫(yī)院,通過常規(guī)經(jīng)支氣管針吸活檢術(shù)(C-TBNA)和(或)經(jīng)支氣管超聲引導針吸活檢術(shù)(EBUS-TBNA)獲取的小標本(包括細胞學包埋標本和組織條小標本),其最終病理診斷為NSCLC的30例患者資料。所有患者的TBNA細胞學標本,經(jīng)液基細胞液處理,再用福爾馬林固定,成為TBNA細胞學包埋標本；TBNA組織條小標本則直接福爾馬林固定,按組織學標本的方法,進行常規(guī)的石蠟包埋,均制成石蠟包塊。TBNA石蠟包塊標本用顯微切割技術(shù)獲取足夠的腫瘤組織細胞,采用QIAamp DNA提取試劑盒提取基因組DNA,通過ARMS法檢測標本的EGFR基因突變情況。結(jié)果：30例NSCLC患者的TBNA獲取的小標本應用ARMS法行EGFR基因突變檢測,有13例存在EGFR基因突變,突變率為43.3%。其中發(fā)現(xiàn)7例為19外顯子缺失突變,5例為21外顯子點突變,1例TBNA細胞學包埋標本為19/21復合突變,而其TBNA組織條小標本為21外顯子點突變。其中女性EGFR突變率明顯高于男性,且具有統(tǒng)計學差異。而非吸煙者突變率高于吸煙者,腺癌分別與鱗癌及腺鱗癌之間EGFR突變率比較,差異均無統(tǒng)計學意義。5例NSCLC患者同時獲取TBNA細胞學包埋標本及組織條小標本進行EGFR基因檢測,結(jié)果2例TBNA細胞學包埋標本檢測出突變,3例野生型。同樣,TBNA組織條小標本檢測到2例突變,3例野生型。但其中1例患者雖TBNA細胞學包埋標本和組織條小標本均檢測到突變,但突變類型不完全一樣。部分TBNA小標本分別與相應大病理組織學標本的EGFR檢測結(jié)果對照,EGFR突變檢測結(jié)果的符合率為83.3%。其中1例患者TBNA組織條小標本檢測到突變,而大病理組織學標本為野生型。結(jié)論：1、TBNA的細胞學標本經(jīng)特殊處理后可以成為合格的EGFR檢測標本。2、使用ARMS法檢測NSCLC患者的TBNA小標本(經(jīng)特殊處理的細胞學包埋標本及組織條小標本)的EGFR基因突變是可行的,有臨床推廣價值。3、TBNA細胞學包埋標本EGFR基因突變檢測結(jié)果與組織標本的檢測結(jié)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.
【學位授予單位】：蘇州大學
【學位級別】：碩士
【學位授予年份】：2015
【分類號】：R734.2
本文編號：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.
【學位授予單位】：蘇州大學
【學位級別】：碩士
【學位授予年份】：2015
【分類號】：R734.2
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1 羅文娟;郭遠文;許雪梅;李小穎;賀浪沖;;表皮生長因子受體及其相關(guān)抗腫瘤藥物[J];現(xiàn)代腫瘤醫(yī)學;2010年03期
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