Detection of EGFR Variants in Plasma A Multilaboratory Comparison of a Real-Time PCR EGFR Mutation Test in Europe

被引:32
作者
Keppens, Cleo [1 ]
Palma, John F. [2 ]
Das, Partha M. [3 ]
Scudder, Sidney [3 ]
Wen, Wei [3 ]
Normanno, Nicola [4 ]
van Krieken, J. Han [5 ]
Sacco, Alessandra [4 ]
Fenizia, Francesca [4 ]
de Castro, David Gonzalez [6 ,7 ]
Hoenigschnabl, Selma [8 ]
Kern, Izidor [9 ]
Lopez-Rios, Fernando [10 ]
Lozano, Maria D. [11 ]
Marchetti, Antonio [12 ]
Halfon, Philippe [13 ]
Schuuring, Ed [14 ]
Setinek, Ulrike [15 ]
Sorensen, Boe [16 ]
Taniere, Phillipe [17 ]
Tiemann, Markus [18 ]
Vosmikova, Hana [19 ]
Dequeker, Elisabeth M. C. [1 ]
机构
[1] Univ Leuven, Dept Publ Hlth & Primary Care, Biomed Qual Assurance Res Unit, Kapucijnenvoer 35d, B-3000 Leuven, Belgium
[2] Roche Sequencing Solut, Pleasanton, CA USA
[3] Roche Mol Syst, Genom & Oncol, Pleasanton, CA USA
[4] Ist Nazl Tumori Fdn G Pascale IRCCS, Cell Biol & Biotherapy Unit, Naples, Italy
[5] Radboud Univ Nijmegen, Dept Pathol, Med Ctr, Nijmegen, Netherlands
[6] Queens Univ Belfast, Ctr Canc Res & Cell Biol, Belfast, Antrim, North Ireland
[7] Royal Marsden, Surrey, England
[8] SMZO Donauspital, Pathol & Bacteriol, Vienna, Austria
[9] Univ Clin Resp & Allerg Dis Golnik, Golnik, Slovenia
[10] Hosp Univ HM Sanchinarro, Madrid, Spain
[11] Univ Navarra, Clin Univ Navarra, Pamplona, Spain
[12] Univ G dAnnunzio, Ctr Predict Mol Med, CeSI Met, Chieti, Italy
[13] Lab Alphabio, Marseille, France
[14] Univ Groningen, Univ Med Ctr Groningen, Dept Pathol, Groningen, Netherlands
[15] Otto Wagner Spital, Inst Pathol & Bacteriol, Vienna, Austria
[16] Aarhus Univ Hosp, Dept Clin Biochem, Aarhus, Denmark
[17] Queen Elizabeth Hosp, Mol Pathol Diagnost Serv, Birmingham, W Midlands, England
[18] Inst Haematopathol, Hamburg, Germany
[19] Fac Hosp Hradec Kralove, Hradec Kralove, Czech Republic
关键词
CELL LUNG-CANCER; CLINICAL-PRACTICE GUIDELINES; CIRCULATING TUMOR DNA; NSCLC PATIENTS; LIQUID BIOPSIES; ONCOLOGY; GEFITINIB; CTDNA;
D O I
10.1016/j.jmoldx.2018.03.006
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
Molecular testing of EGFR is required to predict the response likelihood to targeted therapy in non-small cell lung cancer. Analysis of circulating tumor DNA in plasma may complement limitations of tumor tissue. This study evaluated the interlaboratory performance and reproducibility of a real-time PCR EGFR mutation test (cobas EGFR Mutation Test v2) to detect EGFR variants in plasma. Fourteen laboratories received two identical panels of 27 single-blinded plasma samples. Samples were wild type or spiked with plasmid DNA to contain seven common EGFR variants at six predefined concentrations from 50 to 5000 copies per milliliter. The circulating tumor DNA was extracted by a cell-free circulating DNA sample preparation kit (cobas cfDNA Sample Preparation Kit), followed by duplicate analysis with the real-time PCR EGFR mutation test (Roche Molecular Systems, Pleasanton, CA). Lowest sensitivities were obtained for the c.2156G>C p.(Gly719Ala) and c.2573T>G p.(Leu858Arg) variants for the lowest target copies. For all other variants, sensitivities varied between 96.3% and 100.0%. All specificities were 98.8% to 100.0%. Coefficients of variation indicated good intralaboratory and interlaboratory repeatability and reproducibility but increased for decreasing concentrations. Prediction models revealed a significant correlation for all variants between the predefined copy number and the observed semiquantitative index values, which reflect the samples' plasma mutation load. This study demonstrates an overall robust performance of the real-time PCR EGFR mutation test kit in plasma. Prediction models may be applied to estimate the plasma mutation load for diagnostic or research purposes.
引用
收藏
页码:483 / 494
页数:12
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