Journal
CANCER LETTERS
Volume 370, Issue 2, Pages 324-331Publisher
ELSEVIER IRELAND LTD
DOI: 10.1016/j.canlet.2015.11.005
Keywords
NSCLC; Circulating tumor DNA; Next generation sequencing; Ion PGM/AmpliSeq cancer panel; Targeted sequencing
Categories
Funding
- National Natural Science Foundation of China [81172233, 81301812]
- Specialized Research Fund for the Doctoral Program of Higher Education [20131202110004, 20131202120004]
- Scientific Research Foundation for the Returned Overseas Chinese Scholars of State Education Ministry
- Tianjin Science and Technology Support Program [12ZCDZSY16100]
- Tianjin Educational Committee Foundation [20120117]
- National Institutes of Health [R01 CA90427, R01 AI084811]
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Non-small cell lung cancers (NSCLC) have unique mutation patterns, and some of these mutations may be used to predict prognosis or guide patient treatment. Mutation profiling before and during treatment often requires repeated tumor biopsies, which is not always possible. Recently, cell-free, circulating tumor DNA (ctDNA) isolated from blood plasma has been shown to contain genetic mutations representative of those found in the primary tumor tissue DNA (tDNA), and these samples can readily be obtained using non-invasive techniques. However, there are still no standardized methods to identify mutations in ctDNA. In the current study, we used a targeted sequencing approach with a semi-conductor based next-generation sequencing (NGS) platform to identify gene mutations in matched tDNA and ctDNA samples from 42 advanced-stage NSCLC patients from China. We identified driver mutations in matched tDNA and ctDNA in EGER, KRAS, PIK3CA, and TP53, with an overall concordance of 76%. In conclusion, targeted sequencing of plasma ctDNA may be a feasible option for clinical monitoring of NSCLC in the near future. (C) 2015 Elsevier Ireland Ltd. All rights reserved.
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