Tumor volume determines the feasibility of cell-free DNA sequencing for mutation detection in non-small cell lung cancer

Cancer Science

Volumn 107, Issue 11, 2016, Pages 1660-1666

  Ohira, Tatsuo ^a   Sakai, Kazuko ^b   Matsubayashi, Jun ^a   Kajiwara, Naohiro ^a   Kakihana, Masatoshi ^a   Hagiwara, Masaru ^a   Hibi, Masaaki ^b   Yoshida, Koichi ^a   Maeda, Junichi ^a   Ohtani, Keishi ^a   Nagao, Toshitaka ^a   Nishio, Kazuto ^b   Ikeda, Norihiko ^a  

^a TOKYO MEDICAL UNIVERSITY   (Japan)

^b KINKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Cell free DNA; mutation; non small cell lung cancer; sequencing; tumor volume

Indexed keywords

ADULT; AGED; AMPLICON; ARTICLE; BLOOD SAMPLING; CANCER STAGING; CANCER TISSUE; CELL FREE DNA SEQUENCING; CELL FREE SYSTEM; DIGITAL IMAGING; DNA SEQUENCE; EGFR GENE; FEASIBILITY STUDY; FEMALE; GENE; HUMAN; HUMAN TISSUE; MALE; MEASUREMENT ACCURACY; MUTATIONAL ANALYSIS; NON SMALL CELL LUNG CANCER; ONCOGENE K RAS; PIK3CA GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SOMATIC MUTATION; TUMOR SUPPRESSOR GENE; TUMOR VOLUME; BLOOD; DNA MUTATIONAL ANALYSIS; GENETICS; LUNG TUMOR; MUTATION; PATHOLOGY; PROCEDURES; STANDARDS;

DNA;

CARCINOMA, NON-SMALL-CELL LUNG; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; HUMANS; LUNG NEOPLASMS; MUTATION; NEOPLASM STAGING; POLYMERASE CHAIN REACTION; TUMOR BURDEN;

EID: 84997702001     PISSN: 13479032     EISSN: 13497006     Source Type: Journal    
DOI: 10.1111/cas.13068     Document Type: Article

References (19)

1. Siegel R, Ma J, Zou Z, Jemal A. Cancer statistics, 2014. CA Cancer J Clin 2014; 64: 9–29.
2. Takeda M, Sakai K, Terashima M et al. Clinical application of amplicon-based next-generation sequencing to therapeutic decision making in lung cancer. Ann Oncol 2015; 26: 2477–82.
3. van der Drift MA, Hol BE, Klaassen CH et al. Circulating DNA is a non-invasive prognostic factor for survival in non-small cell lung cancer. Lung Cancer 2010; 68: 283–7.
4. Lee YJ, Yoon KA, Han JY et al. Circulating cell-free DNA in plasma of never smokers with advanced lung adenocarcinoma receiving gefitinib or standard chemotherapy as first-line therapy. Clin Cancer Res 2011; 17: 5179–87.
5. Couraud S, Vaca-Paniagua F, Villar S et al. Noninvasive diagnosis of actionable mutations by deep sequencing of circulating free DNA in lung cancer from never-smokers: a proof-of-concept study from BioCAST/IFCT-1002. Clin Cancer Res 2014; 20: 4613–24.
6. Kimura H, Fujiwara Y, Sone T et al. EGFR mutation status in tumour-derived DNA from pleural effusion fluid is a practical basis for predicting the response to gefitinib. Br J Cancer 2006; 95: 1390–5.
7. Taniguchi K, Uchida J, Nishino K et al. Quantitative detection of EGFR mutations in circulating tumor DNA derived from lung adenocarcinomas. Clin Cancer Res 2011; 17: 7808–15.
8. Douillard JY, Ostoros G, Cobo M et al. First-line gefitinib in Caucasian EGFR mutation-positive NSCLC patients: a phase-IV, open-label, single-arm study. Br J Cancer 2014; 110: 55–62.
9. Oxnard GR, Paweletz CP, Kuang Y et al. Noninvasive detection of response and resistance in EGFR-mutant lung cancer using quantitative next-generation genotyping of cell-free plasma DNA. Clin Cancer Res 2014; 20: 1698–705.
10. Ishii H, Azuma K, Sakai K et al. Digital PCR analysis of plasma cell-free DNA for non-invasive detection of drug resistance mechanisms in EGFR mutant NSCLC: correlation with paired tumor samples. Oncotarget 2015; 6: 30850–8.
11. Kukita Y, Uchida J, Oba S et al. Quantitative identification of mutant alleles derived from lung cancer in plasma cell-free DNA via anomaly detection using deep sequencing data. PLoS ONE 2013; 8: e81468.
12. Paweletz CP, Sacher A, Raymond CK et al. Bias-corrected targeted next-generation sequencing for rapid, multiplexed detection of actionable alterations in cell-free DNA from advanced lung cancer patients. Clin Cancer Res 2015; 22: 915–22.
13. Sakai K, Tsurutani J, Yamanaka T et al. Extended RAS and BRAF mutation analysis using next-generation sequencing. PLoS ONE 2015; 10: e0121891.
14. Narahara M, Higasa K, Nakamura S et al. Large-scale East-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants. PLoS ONE 2014; 9: e100924.
15. Okamoto I, Sakai K, Morita S et al. Multiplex genomic profiling of non-small cell lung cancers from the LETS phase III trial of first-line S-1/carboplatin versus paclitaxel/carboplatin: results of a West Japan Oncology Group study. Oncotarget 2014; 5: 2293–304.
16. Sholl LM, Aisner DL, Varella-Garcia M et al. Multi-institutional oncogenic driver mutation analysis in lung adenocarcinoma: the Lung Cancer Mutation Consortium experience. J Thorac Oncol 2015; 10: 768–77.
17. Zhao X, Han RB, Zhao J et al. Comparison of epidermal growth factor receptor mutation statuses in tissue and plasma in stage I-IV non-small cell lung cancer patients. Respiration 2013; 85: 119–25.
18. Guo K, Zhang Z, Han L et al. Detection of epidermal growth factor receptor mutation in plasma as a biomarker in Chinese patients with early-stage non-small cell lung cancer. Onco Targets Ther 2015; 8: 3289–96.
19. Bettegowda C, Sausen M, Leary RJ et al. Detection of circulating tumor DNA in early- and late-stage human malignancies. Sci Transl Med 2014; 6: 224ra24.