非小细胞肺癌伴随诊断的研究进展

doi:10.3969/j.issn.1004-616x.2021.01.014

摘要/Abstract

摘要： 非小细胞肺癌是最常见且死亡率最高的肿瘤，不同的非小细胞肺癌患者的驱动基因不同，且大多数患者通常发现晚，预后差。针对不同患者制定个性化治疗方案，选择适合的靶向药物是非小细胞肺癌的最佳治疗方案。伴随诊断通过整合多种体外诊断技术，为患者提供精确的靶向用药信息，避免患者因选择不适合的靶向药物造成不良后果。本文对非小细胞肺癌伴随诊断中的靶向生物标记物、检测技术及伴随诊断的国内外现状进行概述。

关键词: 非小细胞肺癌, 伴随诊断, 生物标记物, 检测技术, 靶向药物

中图分类号:

R730.4

赵子慧, 王绪华. 非小细胞肺癌伴随诊断的研究进展[J]. 癌变·畸变·突变, 2021, 33(1): 66-71,76.

参考文献

[1] 郑荣寿, 孙可欣, 张思维, 等. 2015年中国恶性肿瘤流行情况分析[J]. 中华肿瘤杂志, 2019, 41(1):19-28.
[2] LI D, LI D, SONG G, et al. Cancer survival in Cixian of China, 20032013:a population-based study[J]. Cancer Med, 2018, 7(4):1537-1545.
[3] BRAY F, FERLAY J, SOERJOMATARAM I, et al. Global cancer statistics 2018:GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries[J]. CA:a Cancer J Clin, 2018, 68(6):394-424.
[4] ROTOW J, BIVONA T G. Understanding and targeting resistance mechanisms in NSCLC[J]. Nat Rev Cancer, 2017, 17(11):637-658.
[5] OSMANI L, ASKIN F, GABRIELSON E, et al. Current WHO guidelines and the critical role of immunohistochemical markers in the subclassification of non-small cell lung carcinoma (NSCLC):Moving from targeted therapy to immunotherapy[J]. Semin Cancer Biol, 2018, 52(Sup 1):103-109.
[6] HERSOM M, JØRGENSEN J T. Companion and complementary diagnostics-focus on PD-L1 expression assays for PD-1/PD-L1 checkpoint inhibitors in non-small cell lung cancer[J]. Ther Drug Monit, 2018, 40(1):9-16.
[7] NATIONAL COMPREHENSIVE CANCER NETWORK. NCCN clinical practice guidelines in oncology[EB/OL]. (2011-02-11)[2020-05-06]. https://www.nccn.org/professionals/physician_gls/pdf/nscl.pdf.
[8] INAMURA K, NINOMIYA H, ISHIKAWA Y, et al. Is the epidermal growth factor receptor status in lung cancers reflected in clinicopathologic features?[J]. Arch Pathol Lab Med, 2010, 134(1):66-72.
[9] DOWELL J E, MINNA J D. Chasing mutations in the epidermal growth factor in lung cancer[J]. N Engl J Med, 2005, 352(8):830-832.
[10] WANG S, WANG Z. EGFR mutations in patients with non-small cell lung cancer from mainland China and their relationships with clinicopathological features:a metaanalysis[J]. Int J Clin Exp Med, 2014, 7(8):1967-1978.
[11] LOONG H H, KWAN S S, MOK T S, et al. Therapeutic strategies in EGFR mutant non-small cell lung cancer[J]. Curr Treat Options Oncol, 2018, 19(11):58.
[12] LEE D H. Treatments for EGFR-mutant non-small cell lung cancer (NSCLC):The road to a success, paved with failures[J]. Pharmacol Ther, 2017, 174:1-21.
[13] LIN Y X, WANG X, JIN H C. EGFRTKI resistance in NSCLC patients:mechanisms and strategies[J]. Am J Cancer Res, 2014, 4(5):411-435.
[14] ROTOW J, BIVONA T G. Understanding and targeting resistance mechanisms in NSCLC[J]. Nat Rev Cancer, 2017, 17(11):637-658.
[15] DAVIES H, BIGNELL G R, COX C, et al. Mutations of the BRAF gene in human cancer[J]. Nature, 2002, 417(6892):949-954.
[16] PLANCHARD D, BESSE B, GROEN H J M, et al. Dabrafenib plus trametinib in patients with previously treated BRAFV600Emutant metastatic non-small cell lung cancer:an open-label, multicentre phase 2 trial[J]. Lancet Oncol, 2016, 17(7):984-993.
[17] SACHER A G, GANDHI L. Biomarkers for the clinical use of PD1/PDL1 inhibitors in nonsmallcell lung cancer:a review[J]. JAMA Oncol, 2016, 2(9):1217-1222.
[18] CHARGIN A, MORGAN R, SUNDRAM U, et al. Quantification of PDL1 and PD-1 expression on tumor and immune cells in non-small cell lung cancer (NSCLC) using non-enzymatic tissue dissociation and flow cytometry[J]. Cancer Immunol Immunother, 2016, 65(11):1317-1323.
[19] HUNG Y P, SHOLL L M. Diagnostic and predictive immunohistochemistry for non-small cell lung carcinomas[J]. Adv Anat Pathol, 2018, 25(6):374-386.
[20] SHEN Q, WANG X, YU B, et al. Comparing four different ALK antibodies with manual immunohistochemistry (IHC) to screen for ALKrearranged non-small cell lung cancer (NSCLC)[J]. Lung Cancer, 2015, 90(3):492-498.
[21] LANTUEJOUL S, DAMOTTE D, HOFMAN V, et al. Programmed death ligand 1 immunohistochemistry in nonsmall cell lung carcinoma[J]. J Thorac Dis, 2019, 11(Sup 1):S89-S101.
[22] SAVIC S, DIEBOLD J, ZIMMERMANN A K, et al. Screening for ALK in nonsmall cell lung carcinomas:5A4 and D5F3 antibodies perform equally well, but combined use with FISH is recommended[J]. Lung Cancer, 2015, 89(2):104-109.
[23] SHEN Q, WANG X, YU B, et al. Comparing four different ALK antibodies with manual immunohistochemistry (IHC) to screen for ALKrearranged non-small cell lung cancer (NSCLC)[J]. Lung Cancer, 2015, 90(3):492-498.
[24] LIM A S, LIM T H. Fluorescence in situ hybridization on tissue sections[J]. Methods Mol Biol, 2017, 1541:119-125.
[25] GOZZETTI A, LE BEAU M M. Fluorescence in situ hybridization:Uses and limitations[J]. Semin Hematol, 2000, 37(4):320-333.
[26] LEVSKY J M. Fluorescence in situ hybridization:past, present and future[J]. J Cell Sci, 2003, 116(14):2833-2838.
[27] TANG Z Y, WANG L, TANG G L, et al. Fluorescence in situ hybridization (FISH) for detecting anaplastic lymphoma kinase (ALK) rearrangement in lung cancer:clinically relevant technical aspects[J]. Int J Mol Sci, 2019, 20(16):3939.
[28] GAO J, WU H, SHI X, et al. Comparison of nextgeneration sequencing, quantitative PCR, and Sanger sequencing for mutation profiling of EGFR, KRAS, PIK3CA and BRAF in clinical lung tumors[J]. Clin Lab, 2016, 62(4):689-696.
[29] JAMALHANJANI M, WILSON G A, MCGRANAHAN N, et al. Tracking the evolution of non-small-cell lung cancer[J]. N Engl J Med, 2017, 376(22):2109-2121.
[30] OSMANI L, ASKIN F, GABRIELSON E, et al. Current WHO guidelines and the critical role of immunohistochemical markers in the subclassification of non-small cell lung carcinoma (NSCLC):Moving from targeted therapy to immunotherapy[J]. Semin Cancer Biol, 2018, 52(Sup 1):103-109.
[31] VENDRELL J A, TAVIAUX S, BÉGANTON B, et al. Detection of known and novel ALK fusion transcripts in lung cancer patients using next-generation sequencing approaches[J]. Sci Rep, 2017, 7(1):12510.
[32] MU W B, LU H M, CHEN J, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing[J]. J Mol Diagn, 2016, 18(6):923-932.
[33] HAN J Y, KIM S H, LEE Y S, et al. Comparison of targeted nextgeneration sequencing with conventional sequencing for predicting the responsiveness to epidermal growth factor receptor-tyrosine kinase inhibitor (EGFR-TKI) therapy in never-smokers with lung adenocarcinoma[J]. Lung Cancer, 2014, 85(2):161-167.
[34] LANMAN R B, MORTIMER S A, ZILL O A, et al. Analytical and clinical validation of a digital sequencing panel for quantitative, highly accurate evaluation of cellfree circulating tumor DNA[J]. PLoS One, 2015, 10(10):e0140712.
[35] 李永文, 刘红雨, 李颖,等. 实时荧光定量PCR和测序法检测非小细胞肺癌EGFR基因突变的比较[J]. 中国肺癌杂志, 2009, 12(12):1255-1259.
[36] DUAN H, LU J, LU T, et al. Comparison of EGFR mutation status between plasma and tumor tissue in nonsmall cell lung cancer using the Scorpion ARMS method and the possible prognostic significance of plasma EGFR mutation status[J]. Int J Clin Exp Pathol, 2015, 8(10):13136-13145.
[37] VALLÉE A, LE LOUPP A G, DENIS M G. Efficiency of the Therascreen^® RGQ PCR kit for the detection of EGFR mutations in nonsmall cell lung carcinomas[J]. Clin Chimica Acta, 2014, 429:8-11.
[38] PALMER R H, VERNERSSON E, GRABBE C, et al. Anaplastic lymphoma kinase:signalling in development and disease[J]. Biochem J, 2009, 420(3):345-361.
[39] ZHANG X Y, SHEN W X, CHEN C F, et al. Detection of the clarithromycin resistance of Helicobacter pylori in gastric mucosa by the amplification refractory mutation system combined with quantitative real-time PCR[J]. Cancer Med, 2019, 8(4):1633-1640.
[40] 魏洪泽, 李玉杰. 精准医疗与伴随诊断产业发展研究[J]. 中国生物工程杂志, 2019, 39(2):13-21.
[41] U.S. FOOD&DRUG. Company Diagnose[EB/OL]. (2018-12-07)[202005-06]. https://www.fda.gov/medical-devices/vitro-diagnostics/companion-diagnostics.
[42] HOFMAN P, BARLESI F. Companion diagnostic tests for treatment of lung cancer patients:what are the current and future challenges?[J]. Expert Rev Mol Diagn, 2019, 19(5):429-438.