Comparison of Next-Generation Sequencing and Mutation-Specific Platforms in Clinical Practice

被引:37
作者
Hinrichs, John W. J. [1 ]
Van Blokland, W. T. Marja [1 ]
Moons, Michiel J. [1 ]
Radersma, Remco D. [1 ]
Radersma-Van Loon, Joyce H. [1 ]
de Voijs, Carmen M. A. [1 ]
Rappel, Sophie B. [1 ]
Koudijs, Marco J. [2 ]
Besselink, Nicolle J. M. [2 ]
Willems, Stefan M. [1 ]
de Weger, Roel A. [1 ]
机构
[1] Univ Med Ctr Utrecht, Dept Pathol, NL-3508 GA Utrecht, Netherlands
[2] Univ Med Ctr Utrecht, Dept Med Oncol, NL-3508 GA Utrecht, Netherlands
关键词
Mutation analysis platform; Next-generation sequencing; Lung adenocarcinoma; KRAS; EGFR; GROWTH-FACTOR-RECEPTOR; LUNG-CANCER; EGFR; RAS; GEFITINIB; MARKERS; IMPACT; KRAS;
D O I
10.1309/AJCP40XETVYAMJPY
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
Objectives: To compare next-generation sequencing (NGS) plafforms with mutation-specific analysis platforms in a clinical setting, in terms of sensitivity, mutation specificity, costs, capacity, and ease of use. Methods: We analyzed 25 formalin-fixed, paraffin-embedded lung cancer samples of different size and tumor percentage for known KRAS and EGFR hotspot mutations with two dedicated genotyping platforms (cobas [Roche Diagnostics, Almere, The Netherlands] and Rotor-Gene [QIAGEN, Venlo, The Netherlands]) and two NGS platforms (454 Genome Sequencer [GS] junior [Roche Diagnostics] and Ion Torrent Personal Genome Machine [Life Technologies, Bleiswijk, The Netherlands]). Results: All platforms, except the 454 GS junior, detected the mutations originally detected by Sanger sequencing and high-resolution melting prescreening and detected an additional KRAS mutation. The dedicated genotyping platforms outperformed the NGS platforms in speed and ease of use. The large sequencing capacity of the NGS plafforms enabled them to deliver all mutation information for all samples at once. Conclusions: Sensitivity for detecting mutations was highly comparable among all platforms. The choice for either a dedicated genotyping platform or an NGS plafform is basically a trade-off between speed and genetic information.
引用
收藏
页码:573 / 578
页数:6
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