EGFR Testing in Advanced Non-Small-Cell Lung Cancer, A Mini-Review.

作者: Yuri Sheikine , Deepa Rangachari , Danielle C. McDonald , Mark S. Huberman , Erik S. Folch

DOI: 10.1016/J.CLLC.2016.05.016

关键词:

摘要: Expert consensus guidelines have defined minimum requirements for routine testing and identification of classical epidermal growth factor (EGFR) mutations (ie, exon 19 deletions 21 L858R substitution) anaplastic lymphoma kinase (ALK) rearrangements in advanced non-small-cell lung cancers adenocarcinoma histology, with the intent permitting use these predictive biomarkers to select patients who will derive maximal benefit from approved oral tyrosine inhibitors (TKIs) directed against EGFR ALK, respectively. However, practice precision medicine is incumbent upon optimal tumor sampling, accurate testing, informed application results patient care. We report on a brief review methodologies (Sanger sequencing, allele-specific polymerase chain reaction, targeted next-generation sequencing) identify other 18 G719X, insertions, 20 L861Q) mutations; practical considerations (type tissue/biopsies different success rates DNA isolation, timeliness result-reporting facilitate therapeutic decision-making); role rebiopsy (to mechanisms acquired resistance first- second-generation TKIs, most importantly EGFR-T790M); clinical vignettes highlighting nuances day-to-day practice.

参考文章(76)
Kenneth S Thress, Cloud P Paweletz, Enriqueta Felip, Byoung Chul Cho, Daniel Stetson, Brian Dougherty, Zhongwu Lai, Aleksandra Markovets, Ana Vivancos, Yanan Kuang, Dalia Ercan, Sarah E Matthews, Mireille Cantarini, J Carl Barrett, Pasi A Jänne, Geoffrey R Oxnard, Acquired EGFR C797S mutation mediates resistance to AZD9291 in non–small cell lung cancer harboring EGFR T790M Nature Medicine. ,vol. 21, pp. 560- 562 ,(2015) , 10.1038/NM.3854
P. Kleihues, B. W. Stewart, World Cancer Report ,(2003)
Takaaki Hasegawa, Toshiyuki Sawa, Yohei Futamura, Akane Horiba, Takashi Ishiguro, Tsutomu Marui, Tsutomu Yoshida, Feasibility of Rebiopsy in Non-Small Cell Lung Cancer Treated with Epidermal Growth Factor Receptor-Tyrosine Kinase Inhibitors. Internal Medicine. ,vol. 54, pp. 1977- 1980 ,(2015) , 10.2169/INTERNALMEDICINE.54.4394
Jean-Nicolas Gallant, Jonathan H. Sheehan, Timothy M. Shaver, Mark Bailey, Doron Lipson, Raghu Chandramohan, Monica Red Brewer, Sally J. York, Mark G. Kris, Jennifer A. Pietenpol, Marc Ladanyi, Vincent A. Miller, Siraj M. Ali, Jens Meiler, Christine M. Lovly, EGFR kinase domain duplication (EGFR-KDD) is a novel oncogenic driver in lung cancer that is clinically responsive to afatinib Cancer Discovery. ,vol. 5, pp. 1155- 1163 ,(2015) , 10.1158/2159-8290.CD-15-0654
Stacey Gabriel, Liuda Ziaugra, Diana Tabbaa, SNP Genotyping Using the Sequenom MassARRAY iPLEX Platform Current protocols in human genetics. ,vol. 60, ,(2009) , 10.1002/0471142905.HG0212S60
Richard B. Lanman, Stefanie A. Mortimer, Oliver A. Zill, Dragan Sebisanovic, Rene Lopez, Sibel Blau, Eric A. Collisson, Stephen G. Divers, Dave S. B. Hoon, E. Scott Kopetz, Jeeyun Lee, Petros G. Nikolinakos, Arthur M. Baca, Bahram G. Kermani, Helmy Eltoukhy, AmirAli Talasaz, Analytical and Clinical Validation of a Digital Sequencing Panel for Quantitative, Highly Accurate Evaluation of Cell-Free Circulating Tumor DNA PLOS ONE. ,vol. 10, pp. e0140712- ,(2015) , 10.1371/JOURNAL.PONE.0140712
JANA FASSUNKE, FLORIAN HALLER, SIMONE HEBELE, EVGENY A. MOSKALEV, ROLAND PENZEL, NICOLE PFARR, SABINE MERKELBACH-BRUSE, VOLKER ENDRIS, Utility of different massive parallel sequencing platforms for mutation profiling in clinical samples and identification of pitfalls using FFPE tissue. International Journal of Molecular Medicine. ,vol. 36, pp. 1233- 1243 ,(2015) , 10.3892/IJMM.2015.2339
William D Travis, Elisabeth Brambilla, Allen P Burke, Alexander Marx, Andrew G Nicholson, None, Introduction to The 2015 World Health Organization Classification of Tumors of the Lung, Pleura, Thymus, and Heart. Journal of Thoracic Oncology. ,vol. 10, pp. 1240- 1242 ,(2015) , 10.1097/JTO.0000000000000663
Dalia H Ghoneim, Jason R Myers, Emily Tuttle, Alex R Paciorkowski, Comparison of insertion/deletion calling algorithms on human next-generation sequencing data BMC Research Notes. ,vol. 7, pp. 864- 864 ,(2014) , 10.1186/1756-0500-7-864
John W. J. Hinrichs, W. T. Marja van Blokland, Michiel J. Moons, Remco D. Radersma, Joyce H. Radersma-van Loon, Carmen M. A. de Voijs, Sophie B. Rappel, Marco J. Koudijs, Nicolle J. M. Besselink, Stefan M. Willems, Roel A. de Weger, Comparison of Next-Generation Sequencing and Mutation-Specific Platforms in Clinical Practice American Journal of Clinical Pathology. ,vol. 143, pp. 573- 578 ,(2015) , 10.1309/AJCP40XETVYAMJPY