原发T790M突变非小细胞肺癌研究进展
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摘要
随着检测技术的发展,原发T790M突变检出率不断增加,三代表皮生长因子受体(epidermal growth factor receptor, EGFR)酪氨酸激酶抑制剂(tyrosine kinase inhibitors, TKIs)出现为其提供治疗机会。临床常重视继发T790M突变,而对原发T790M突变忽视或关注度不够。本综述发现原发T790M突变发生率波动大,主要受检测技术影响。原发T790M突变丰度多较低,易合并其他基因改变,是不良的预测和预后指标,一代和二代EGFR-TKIs疗效欠佳,奥希替尼的治疗价值有待研究。
With the development of sequencing technology, the detection rate of de novo T790 M mutation is increasing. The emergence of the third generation of epidermal growth factor receptor(EGFR) tyrosine kinase inhibitors(TKIs) provide treatment opportunities. Secondary T790 M mutation is often emphasized in clinic, but de novo T790 M mutation is neglected. This review found that the incidence of de novo T790 M mutation fluctuated greatly, which was mainly affected by sequencing techniques. The de novo T790 M mutation is mainly low in mutation abundance, easy to combine with other gene changes, a poor predictor and prognostic factor and the efficacy of the first and second generation EGFR-TKIs is limited. The therapeutic value of osimertinib needs to be studied.
With the development of sequencing technology, the detection rate of de novo T790 M mutation is increasing. The emergence of the third generation of epidermal growth factor receptor(EGFR) tyrosine kinase inhibitors(TKIs) provide treatment opportunities. Secondary T790 M mutation is often emphasized in clinic, but de novo T790 M mutation is neglected. This review found that the incidence of de novo T790 M mutation fluctuated greatly, which was mainly affected by sequencing techniques. The de novo T790 M mutation is mainly low in mutation abundance, easy to combine with other gene changes, a poor predictor and prognostic factor and the efficacy of the first and second generation EGFR-TKIs is limited. The therapeutic value of osimertinib needs to be studied.
引文
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2 Yu HA,Arcila ME,Rekhtman N,et al.Analysis of tumor specimens at the time of acquired resistance to EGFR-TKI therapy in 155 patients with EGFR-mutant lung cancers.Clin Cancer Res,2013,19(8):2240-2247.doi:10.1158/1078-0432.CCR-12-2246
3 Ma C,Wei S,Song Y.T790M and acquired resistance of EGFR TKI:a literature review of clinical reports.J Thorac Dis,2011,3(1):10-18.doi:10.3978/j.issn.2072-1439.2010.12.02
4 Ohashi K,Maruvka Y E,Michor F,et al.Epidermal grow th factor receptor tyrosine kinase inhibitor-resistant disease.J Clin Oncol,2013,31(8):1070-1080.doi:10.1200/JCO.2012.43.3912
5 Maheswaran S,Sequist LV,Nagrath S,et al.Detection of mutations in EGFR in circulating lung-cancer cells.N Engl J Med,2008,359(4):366-377.doi:10.1056/NEJMoa0800668
6 Fujita Y,Suda K,Kimura H,et al.Highly sensitive detection of EGFRT790M mutat ion usi ng colony hybr id izat ion pred icts favorable prognosis of patients with lung cancer harboring activating EGFRmutation.J Thorac Oncol,2012,7(11):1640-164 4.doi:10.1097/JTO.0b013e3182653d7f.
7 Watanabe M,Kawaguchi T,Isa S,et al.Ultra-sensitive detection of the pretreatment egfr t790m mutation in non-small cell lung cancer patients with an EGFR-activating mutation using droplet digital PCR.Clin Cancer Res,2015,21(15):3552-3560.doi:10.1158/1078-0432.CCR-14-2151
8 Mok TS,Wu YL,Ahn MJ,et al.Osimertinib or platinum-pemetrexed in EGFR T790M-positive lung cancer.N Engl J Med,2017,376(7):629-640.doi:10.1056/NEJMoa1612674
9 Girard N,Lou E,A zzoli CG,et al.A nalysis of genetic variants in never-smokers with lung cancer facilitated by an Internet-based blood collection protocol:a preliminary report.Clin Cancer Res,2010,16(2):755-763.doi:10.1158/1078-0432.CCR-09-2437
10 Hu Y,Alden RS,Odegaard JI,et al.Discrimination of germline EGFRT790M mutations in plasma cell-free DNA allows study of prevalence across 31,414 cancer patients.Clin Cancer Res,2017,23(23):7351-7359.doi:10.1158/1078-0432.CCR-17-1745
11 Yang JC,Sequist LV,Geater SL,et al.Clinical activity of afatinib in patients w ith advanced non-small-cell lung cancer harbouring uncommon EGFR mutations:a combined post-hoc analysis of LUX-Lung 2,LUX-Lung 3,and LUX-Lung 6.Lancet Oncol,2015,16(7):830-838.doi:10.1016/S1470-2045(15)00026-1
12 Li W,Qiu T,Guo L,et al.Primary and acquired EGFR T790M-mutant NSCLC patients identified by routine mutation testing show different characteristics but may both respond to osimertinib treatment.Cancer Lett,2018,423:9-15.doi:10.1016/j.canlet.2018.03.005
13 Tian P,Wang Y,Wang W,et al.High-throughput sequencing reveals distinct genetic features and clinical implications of NSCLC with de novo and acquired EGFR T790M mutation.Lung Cancer,2018,124:205-210.doi:10.1016/j.lungcan.2018.08.014
14 Iwama E,Takayama K,Harada T,et al.Highly sensitive and quantitative evaluation of the EGFR T790M mutation by nanofluidic digital PCR.Oncotarget,2015,6(24):20466-20473.doi:10.18632/oncotarget.4058
15 Rosell R,Molina M A,Costa C,et al.Pretreatment EGFR T790Mmutation and BRCA1 mRNA expression in erlotinib-treated advanced non-small-cell lung cancer patients with EGFR mutations.Clin Cancer Res,2011,17(5):1160-1168.doi:10.1158/1078-0432.CCR-10-2158
16 Wu J Y,Yu CJ,Chang YC,et al.Ef fectiveness of t y rosine k inase inhibitors on“uncommon”epidermal growth factor receptor mutations of unknown clinical significance in non-small cell lung cancer.Clin Ca ncer R es,2011,17(11):3812-3821.doi:10.1158/1078-0 432.CCR-10-3408
17 Li H,Hu H,Wang R,et al.Primary concomitant EGFR T790M mutation predicted worse prognosis in non-small cell lung cancer patients.Onco Targets Ther,2014,7:513-524.doi:10.2147/OTT.S60122
18 Sequist LV,Martins RG,Spigel D,et al.First-line gefitinib in patients with advanced non-small-cell lung cancer harboring somatic EGFRmutations.J Clin Oncol,2008,26(15):24 42-24 49.doi:10.1200/JCO.2007.14.8494
19 Arrieta O,Cardona AF,Corrales L,et al.The impact of common and rare EGFR mutations in response to EGFR tyrosine kinase inhibitors and platinum-based chemotherapy in patients with non-small cell lung cancer.Lung Cancer,2015,87(2):169-175.doi:10.1016/j.lungcan.2014.12.009
20 Fukuoka M,Wu YL,Thongprasert S,et al.Biomarker analyses and final overall survival results from a phase III,randomized,open-label,firstline study of gefitinib versus carboplatin/paclitaxel in clinically selected patients with advanced non-small-cell lung cancer in Asia(IPASS).JClin Oncol,2011,29(21):2866-2874.doi:10.1200/JCO.2010.33.4235
21 Wang W,Karampini E,Correia LL,et al.Digital detection of T790M-yes or no to an ultrasensitive assay.Transl Lung Cancer Res,2016,5(3):338-342.doi:10.21037/tlcr.2016.05.01
22 Ye X,Zhu ZZ,Zhong L,et al.High T790M detection rate in TKI-naive NSCLC with EGFR sensitive mutation:truth or artifact?J Thorac Oncol,2013,8(9):1118-1120.doi:10.1097/JTO.0b013e31829f691f
23 Tatematsu T,Okuda K,Suzuk i A,et al.T he detectabi lit y of the pretreatment EGFR T790M mutations in lung adenocarcinoma using CAST-PCR and digital PCR.J Thorac Dis,2017,9(8):2397-2403.doi:10.21037/jtd.2017.07.02
24 Do H,Molania R,Mitchell PL,et al.Reducing artifactual EGFR T790Mmutations in DNA from formalin-fixed paraffin-embedded tissue by use of thymine-DNA glycosylase.Clin Chem,2017,63(9):1506-1514.doi:10.1373/clinchem.2017.271932
25 Lee Y,Lee GK,Hwang JA,et al.Clinical likelihood of sporadic primary EGFR T790M mutation in EGFR-mutant lung cancer.Clin Lung Cancer,2015,16(1):46-50.doi:10.1016/j.cllc.2014.09.002
26 Oh JE,A n CH,Yoo NJ,et al.Detection of low-level EGFR T790Mmutation in lung cancer tissues.APMIS,2011,119(7):403-411.doi:10.1111/j.1600-0463.2011.02738.x
27 Riely GJ,Pao W,Pham D,et al.Clinical course of patients with nonsmall cell lung cancer and epidermal growth factor receptor exon 19 and exon 21 mutations treated with gefitinib or erlotinib.Clin Cancer Res,2006,12(3 Pt 1):839-844.doi:10.1158/1078-0432.CCR-05-1846
28 Ding D,Yu Y,Li Z,et al.The predictive role of pretreatment epidermal grow th factor receptor T790M mutation on the progression-free survival of tyrosine-kinase inhibitor-treated non-small cell lung cancer patients:a meta-analysis.Onco Targets Ther,2014,7:387-393.doi:10.2147/OTT.S58870
29 A ncevsk i Hunter K,Friedland DM,Villar uz LC,et al.First-line osimertinib in patients with treatment-naive somatic or germline EGFRT790M-mutant metastatic NSCLC.J Thorac Oncol,2018,13(1):e3-e5.doi:10.1016/j.jtho.2017.09.1963
30 Liu Y,Sun L,Xiong ZC,et al.Meta-analysis of the impact of de novo and acquired EGFR T790M mutations on the prognosis of patients with non-small cell lung cancer receiving EGFR-TKIs.Onco Targets Ther,2017,10:2267-2279.doi:10.2147/OTT.S133082
2 Yu HA,Arcila ME,Rekhtman N,et al.Analysis of tumor specimens at the time of acquired resistance to EGFR-TKI therapy in 155 patients with EGFR-mutant lung cancers.Clin Cancer Res,2013,19(8):2240-2247.doi:10.1158/1078-0432.CCR-12-2246
3 Ma C,Wei S,Song Y.T790M and acquired resistance of EGFR TKI:a literature review of clinical reports.J Thorac Dis,2011,3(1):10-18.doi:10.3978/j.issn.2072-1439.2010.12.02
4 Ohashi K,Maruvka Y E,Michor F,et al.Epidermal grow th factor receptor tyrosine kinase inhibitor-resistant disease.J Clin Oncol,2013,31(8):1070-1080.doi:10.1200/JCO.2012.43.3912
5 Maheswaran S,Sequist LV,Nagrath S,et al.Detection of mutations in EGFR in circulating lung-cancer cells.N Engl J Med,2008,359(4):366-377.doi:10.1056/NEJMoa0800668
6 Fujita Y,Suda K,Kimura H,et al.Highly sensitive detection of EGFRT790M mutat ion usi ng colony hybr id izat ion pred icts favorable prognosis of patients with lung cancer harboring activating EGFRmutation.J Thorac Oncol,2012,7(11):1640-164 4.doi:10.1097/JTO.0b013e3182653d7f.
7 Watanabe M,Kawaguchi T,Isa S,et al.Ultra-sensitive detection of the pretreatment egfr t790m mutation in non-small cell lung cancer patients with an EGFR-activating mutation using droplet digital PCR.Clin Cancer Res,2015,21(15):3552-3560.doi:10.1158/1078-0432.CCR-14-2151
8 Mok TS,Wu YL,Ahn MJ,et al.Osimertinib or platinum-pemetrexed in EGFR T790M-positive lung cancer.N Engl J Med,2017,376(7):629-640.doi:10.1056/NEJMoa1612674
9 Girard N,Lou E,A zzoli CG,et al.A nalysis of genetic variants in never-smokers with lung cancer facilitated by an Internet-based blood collection protocol:a preliminary report.Clin Cancer Res,2010,16(2):755-763.doi:10.1158/1078-0432.CCR-09-2437
10 Hu Y,Alden RS,Odegaard JI,et al.Discrimination of germline EGFRT790M mutations in plasma cell-free DNA allows study of prevalence across 31,414 cancer patients.Clin Cancer Res,2017,23(23):7351-7359.doi:10.1158/1078-0432.CCR-17-1745
11 Yang JC,Sequist LV,Geater SL,et al.Clinical activity of afatinib in patients w ith advanced non-small-cell lung cancer harbouring uncommon EGFR mutations:a combined post-hoc analysis of LUX-Lung 2,LUX-Lung 3,and LUX-Lung 6.Lancet Oncol,2015,16(7):830-838.doi:10.1016/S1470-2045(15)00026-1
12 Li W,Qiu T,Guo L,et al.Primary and acquired EGFR T790M-mutant NSCLC patients identified by routine mutation testing show different characteristics but may both respond to osimertinib treatment.Cancer Lett,2018,423:9-15.doi:10.1016/j.canlet.2018.03.005
13 Tian P,Wang Y,Wang W,et al.High-throughput sequencing reveals distinct genetic features and clinical implications of NSCLC with de novo and acquired EGFR T790M mutation.Lung Cancer,2018,124:205-210.doi:10.1016/j.lungcan.2018.08.014
14 Iwama E,Takayama K,Harada T,et al.Highly sensitive and quantitative evaluation of the EGFR T790M mutation by nanofluidic digital PCR.Oncotarget,2015,6(24):20466-20473.doi:10.18632/oncotarget.4058
15 Rosell R,Molina M A,Costa C,et al.Pretreatment EGFR T790Mmutation and BRCA1 mRNA expression in erlotinib-treated advanced non-small-cell lung cancer patients with EGFR mutations.Clin Cancer Res,2011,17(5):1160-1168.doi:10.1158/1078-0432.CCR-10-2158
16 Wu J Y,Yu CJ,Chang YC,et al.Ef fectiveness of t y rosine k inase inhibitors on“uncommon”epidermal growth factor receptor mutations of unknown clinical significance in non-small cell lung cancer.Clin Ca ncer R es,2011,17(11):3812-3821.doi:10.1158/1078-0 432.CCR-10-3408
17 Li H,Hu H,Wang R,et al.Primary concomitant EGFR T790M mutation predicted worse prognosis in non-small cell lung cancer patients.Onco Targets Ther,2014,7:513-524.doi:10.2147/OTT.S60122
18 Sequist LV,Martins RG,Spigel D,et al.First-line gefitinib in patients with advanced non-small-cell lung cancer harboring somatic EGFRmutations.J Clin Oncol,2008,26(15):24 42-24 49.doi:10.1200/JCO.2007.14.8494
19 Arrieta O,Cardona AF,Corrales L,et al.The impact of common and rare EGFR mutations in response to EGFR tyrosine kinase inhibitors and platinum-based chemotherapy in patients with non-small cell lung cancer.Lung Cancer,2015,87(2):169-175.doi:10.1016/j.lungcan.2014.12.009
20 Fukuoka M,Wu YL,Thongprasert S,et al.Biomarker analyses and final overall survival results from a phase III,randomized,open-label,firstline study of gefitinib versus carboplatin/paclitaxel in clinically selected patients with advanced non-small-cell lung cancer in Asia(IPASS).JClin Oncol,2011,29(21):2866-2874.doi:10.1200/JCO.2010.33.4235
21 Wang W,Karampini E,Correia LL,et al.Digital detection of T790M-yes or no to an ultrasensitive assay.Transl Lung Cancer Res,2016,5(3):338-342.doi:10.21037/tlcr.2016.05.01
22 Ye X,Zhu ZZ,Zhong L,et al.High T790M detection rate in TKI-naive NSCLC with EGFR sensitive mutation:truth or artifact?J Thorac Oncol,2013,8(9):1118-1120.doi:10.1097/JTO.0b013e31829f691f
23 Tatematsu T,Okuda K,Suzuk i A,et al.T he detectabi lit y of the pretreatment EGFR T790M mutations in lung adenocarcinoma using CAST-PCR and digital PCR.J Thorac Dis,2017,9(8):2397-2403.doi:10.21037/jtd.2017.07.02
24 Do H,Molania R,Mitchell PL,et al.Reducing artifactual EGFR T790Mmutations in DNA from formalin-fixed paraffin-embedded tissue by use of thymine-DNA glycosylase.Clin Chem,2017,63(9):1506-1514.doi:10.1373/clinchem.2017.271932
25 Lee Y,Lee GK,Hwang JA,et al.Clinical likelihood of sporadic primary EGFR T790M mutation in EGFR-mutant lung cancer.Clin Lung Cancer,2015,16(1):46-50.doi:10.1016/j.cllc.2014.09.002
26 Oh JE,A n CH,Yoo NJ,et al.Detection of low-level EGFR T790Mmutation in lung cancer tissues.APMIS,2011,119(7):403-411.doi:10.1111/j.1600-0463.2011.02738.x
27 Riely GJ,Pao W,Pham D,et al.Clinical course of patients with nonsmall cell lung cancer and epidermal growth factor receptor exon 19 and exon 21 mutations treated with gefitinib or erlotinib.Clin Cancer Res,2006,12(3 Pt 1):839-844.doi:10.1158/1078-0432.CCR-05-1846
28 Ding D,Yu Y,Li Z,et al.The predictive role of pretreatment epidermal grow th factor receptor T790M mutation on the progression-free survival of tyrosine-kinase inhibitor-treated non-small cell lung cancer patients:a meta-analysis.Onco Targets Ther,2014,7:387-393.doi:10.2147/OTT.S58870
29 A ncevsk i Hunter K,Friedland DM,Villar uz LC,et al.First-line osimertinib in patients with treatment-naive somatic or germline EGFRT790M-mutant metastatic NSCLC.J Thorac Oncol,2018,13(1):e3-e5.doi:10.1016/j.jtho.2017.09.1963
30 Liu Y,Sun L,Xiong ZC,et al.Meta-analysis of the impact of de novo and acquired EGFR T790M mutations on the prognosis of patients with non-small cell lung cancer receiving EGFR-TKIs.Onco Targets Ther,2017,10:2267-2279.doi:10.2147/OTT.S133082