Concordance between Comprehensive Cancer Genome Profiling in Plasma and Tumor Specimens

Journal of Thoracic Oncology

Volumn 12, Issue 10, 2017, Pages 1503-1511

  Müller, Judith N ^a   Falk, Markus ^b,c   Talwar, Jatin ^a   Neemann, Nicole ^a   Mariotti, Erika ^a   Bertrand, Miriam ^a   Zacherle, Tobias ^a   Lakis, Sotirios ^a   Menon, Roopika ^a   Gloeckner, Christian ^a   Tiemann, Markus ^b,c   Heukamp, Lukas C ^a,b,c   Thomas, Roman K ^d   Griesinger, Frank ^c,e   Heuckmann, Johannes M ^a  

^a NEO New Oncology GmbH   (Germany)

^b Institute for Hematopathology   (Germany)

^c Lung Cancer Network NOWEL   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

^e UNIVERSITY OF OLDENBURG   (Germany)

Author keywords

Comprehensive sequencing; Concordance study; Hybrid capture; Liquid biopsy

Indexed keywords

ARGININE; CRIZOTINIB; DNA; HISTIDINE; ISOCITRATE DEHYDROGENASE 1; SCATTER FACTOR RECEPTOR;

AGED; ARTICLE; BLOOD ANALYSIS; CANCER GENETICS; CANCER PATIENT; CANCER TISSUE; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; DNA DETERMINATION; EXON; FEMALE; GENE DELETION; GENE DOSAGE; GENE FUSION; GENE INSERTION; GENE REARRANGEMENT; GENETIC SCREENING; GENOME ANALYSIS; GENOTYPING TECHNIQUE; HUMAN; HUMAN GENOME; HUMAN TISSUE; IDH1 GENE; LIQUID BIOPSY; MAJOR CLINICAL STUDY; MALE; MET GENE; NEXT GENERATION SEQUENCING; NON SMALL CELL LUNG CANCER; POINT MUTATION; PRIORITY JOURNAL; PROTO ONCOGENE; RELIABILITY; RET GENE; SENSITIVITY AND SPECIFICITY; TUMOR BIOPSY; BLOOD; GENETICS; GENOMICS; NEOPLASM; PROCEDURES;

FEMALE; GENOMICS; HUMANS; LIQUID BIOPSY; MALE; NEOPLASMS;

EID: 85028349510     PISSN: 15560864     EISSN: 15561380     Source Type: Journal    
DOI: 10.1016/j.jtho.2017.07.014     Document Type: Article

References (24)

1. Pao, W., Chmielecki, J., Rational, biologically based treatment of EGFR-mutant non-small-cell lung cancer. Nat Rev Cancer 10 (2010), 760–774.
2. Kwak, E.L., Bang, Y.J., Camidge, D.R., et al. Anaplastic lymphoma kinase inhibition in non-small-cell lung cancer. N Engl J Med 363 (2010), 1693–1703.
3. Shaw, A.T., Ou, S.H., Bang, Y.J., et al. Crizotinib in ROS1-rearranged non-small-cell lung cancer. N Engl J Med 371 (2014), 1963–1971.
4. Chapman, P.B., Hauschild, A., Robert, C., et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med 364 (2011), 2507–2516.
5. Romond, E.H., Perez, E.A., Bryant, J., et al. Trastuzumab plus adjuvant chemotherapy for operable HER2-positive breast cancer. N Engl J Med 353 (2005), 1673–1684.
6. Heinrich, M.C., Corless, C.L., Demetri, G.D., et al. Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J Clin Oncol 21 (2003), 4342–4349.
7. Pekar-Zlotin, M., Hirsch, F.R., Soussan-Gutman, L., et al. Fluorescence in situ hybridization, immunohistochemistry, and next-generation sequencing for detection of EML4-ALK rearrangement in lung cancer. Oncologist 20 (2015), 316–322.
8. Ali, S.M., Hensing, T., Schrock, A.B., et al. Comprehensive genomic profiling identifies a subset of crizotinib-responsive ALK-rearranged non-small cell lung cancer not detected by fluorescence in situ hybridization. Oncologist 21 (2016), 762–770.
9. Heuckmann, J.M., Thomas, R.K., A new generation of cancer genome diagnostics forroutine clinical use: overcoming the roadblocks to personalized cancer medicine. Ann Oncol 26 (2015), 1830–1837.
10. Newman, A.M., Bratman, S.V., To, J., et al. An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage. Nat Med 20 (2014), 548–554.
11. Wan, J.C., Massie, C., Garcia-Corbacho, J., et al. Liquid biopsies come of age: towards implementation of circulating tumour DNA. Nat Rev Cancer 17 (2017), 223–238.
12. Sacher, A.G., Paweletz, C., Dahlberg, S.E., et al. Prospective validation of rapid plasma genotyping for the detection of EGFR and KRAS mutations in advanced lung cancer. JAMA Oncol 2 (2016), 1014–1022.
13. Novello, S., Barlesi, F., Califano, R., et al. Metastatic non-small-cell lung cancer: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol 27:suppl 5 (2016), v1–v27.
14. Mok, T.S., Wu, Y.-L., Ahn, M.-J., et al. Osimertinib or platinum-pemetrexed in EGFR T790M-positive lung cancer. N Engl J Med 376 (2017), 629–640.
15. Travis, W.D., Brambilla, E., Nicholson, A.G., et al. The 2015 World Health Organization Classification of Lung Tumors: impact of genetic, clinical and radiologic advances since the 2004 classification. J Thorac Oncol 10 (2015), 1243–1260.
16. Querings, S., Altmüller, J., Ansén, S., et al. Benchmarking of mutation diagnostics in clinical lung cancer specimens. PLoS One, 6(5), 2011, e19601.
17. Thress, K.S., Paweletz, C.P., Felip, E., et al. Acquired EGFR C797S mutation mediates resistance to AZD9291 in non-small cell lung cancer harboring EGFR T790M. Nat Med 21 (2015), 560–562.
18. Frampton, G.M., Ali, S.M., Rosenzweig, M., et al. Activation of MET via diverse exon 14 splicing alterations occurs in multiple tumor types and confers clinical sensitivity to MET inhibitors. Cancer Discov 5 (2015), 850–859.
19. Mazières, J., Peters, S., Lepage, B., et al. Lung cancer that harbors an HER2 mutation: epidemiologic characteristics and therapeutic perspectives. J Clin Oncol 31 (2013), 1997–2003.
20. Drilon, A., Wang, L., Hasanovic, A., et al. Response to cabozantinib in patients with RET fusion-positive lung adenocarcinomas. Cancer Discov 3 (2013), 630–635.
21. Paweletz, C.P., Sacher, A.G., Raymond, C.K., 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 22 (2016), 915–922.
22. Thompson, J.C., Yee, S.S., Troxel, A.B., et al. Detection of therapeutically targetable driver and resistance mutations in lung cancer patients by next-generation sequencing of cell-free circulating tumor DNA. Clin Cancer Res 22 (2016), 5772–5782.
23. Bettegowda, C., Sausen, M., Leary, R.J., et al. Detection of circulating tumor DNA in early- and late-stage human malignancies. Sci Transl Med, 6, 2014, 224ra24.
24. Oxnard, G.R., Thress, K.S., Alden, R.S., et al. Association between plasma genotyping and outcomes of treatment with osimertinib (AZD9291) in advanced non-small-cell lung cancer. J Clin Oncol 34 (2016), 3375–3382.