The liquid biopsy: a tool for a combined diagnostic and theranostic approach for care of a patient with late-stage lung carcinoma presenting with bilateral ocular metastases

References

• Bernabé R, Hickson N, Wallace A, et al. What do we need to make circulating tumour DNA (ctDNA) a routine diagnostic test in lung cancer? Eur J Cancer. 2017;81:66–73.
   PubMed Web of Science ®Google Scholar
• Köhn L, Johansson M, Grankvist K, et al. Liquid biopsies in lung cancer-time to implement research technologies in routine care? Ann Transl Med. 2017;5(13):278.
   PubMed Web of Science ®Google Scholar
• Sacher AG, Komatsubara KM, Oxnard GR. Application of plasma genotyping technologies in non-small cell lung cancer: a practical review. J Thorac Oncol. 2017 Jun 10;12(9):1344–1356.
   PubMed Web of Science ®Google Scholar
• Dagogo-Jack I, Saltos A, Shaw AT, et al. Pathology issues in thoracic oncology: histologic characterization and tissue/plasma genotyping may resolve diagnostic dilemmas. Am Soc Clin Oncol Educ Book. 2017;37:619–629.
   PubMedGoogle Scholar
• Hofman P, Popper HH. Pathologists and liquid biopsies: to be or not to be? Virchows Arch. 2016;469(6):601–609.
   PubMed Web of Science ®Google Scholar
• Ilié M, Hofman P. Pros: can tissue biopsy be replaced by liquid biopsy? Transl Lung Cancer Res. 2016;5(4):420–423.
   PubMed Web of Science ®Google Scholar
• Douillard JY, Ostoros G, Cobo M, et al.. Gefitinib treatment in EGFR mutated Caucasian NSCLC: circulating-free tumor DNA as a surrogate for determination of EGFR status. J Thorac Oncol. 2014;9(9):1345–1353.
   PubMed Web of Science ®Google Scholar
• Oxnard GR, Thress KS, Alden RS, et al.. Association between plasma genotyping and outcomes of treatment with osimertinib (AZD9291) in advanced non-small-cell lung cancer. J Clin Oncol. 2016;34(28):3375–3382.
   PubMed Web of Science ®Google Scholar
• Cabanero M, Sangha R, Sheffield BS, et al. Management of EGFR-mutated non-small-cell lung cancer: practical implications from a clinical and pathology perspective. Curr Oncol. 2017;24(2):111–119.
   PubMed Web of Science ®Google Scholar
• Kwapisz D. The first liquid biopsy test approved. Is it a new era of mutation testing for non-small cell lung cancer? Ann Transl Med. 2017;5(3):46.
   PubMed Web of Science ®Google Scholar
• Hofman P. Liquid biopsy for early detection of lung cancer. Curr Opin Oncol. 2017;29(1):73–78.
   PubMed Web of Science ®Google Scholar
• Hofman P. ALK status assessment with liquid biopsies of lung cancer patients. Cancers (Basel). 2017;9(8):106.
   Web of Science ®Google Scholar
• Huang WL, Chen YL, Yang S, et al. Liquid biopsy genotyping in lung cancer: ready for clinical utility? Oncotarget. 2017;8(11):18590–18608.
   PubMed Web of Science ®Google Scholar
• Schwaederle M, Chattopadhyay R, Kato S, et al.. Genomic alterations in circulating tumor DNA from diverse cancer patients identified by next-generation sequencing. Cancer Res. 2017 Aug 14:pii: canres.0885.2017. DOI:10.1158/0008-5472.CAN-17-0885.
   PubMed Web of Science ®Google Scholar
• Hofman V, Bonnetaud C, Ilie MI, et al. Preoperative circulating tumor cell detection using the isolation by size of epithelial tumor cell method for patients with lung cancer is a new prognostic biomarker. Clin Cancer Res. 2011;17(4):827–835.
   PubMed Web of Science ®Google Scholar
• Massard C, Borget I, Farace F, et al. RECIST response and variation of circulating tumour cells in phase 1 trials: A prospective multicentric study. Eur J Cancer. 2017;83:185–193.
   PubMed Web of Science ®Google Scholar
• Butler TM, Spellman PT, Gray J. Circulating-tumor DNA as an early detection and diagnostic tool. Curr Opin Genet Dev. 2017;42:14–21.
   PubMed Web of Science ®Google Scholar
• Hofman VJ, Ilie M, Hofman PM. Detection and characterization of circulating tumor cells in lung cancer: why and how? Cancer Cytopathol. 2016 Jun;124(6):380–387.
   PubMed Web of Science ®Google Scholar
• Lu Y, Li S, Zhu S, et al. Methylated DNA/RNA in body fluids as biomarkers for lung cancer. Biol Proced Online. 2017;19:2.
   PubMed Web of Science ®Google Scholar
• Phallen J, Sausen M, Adleff V, et al.. Direct detection of early-stage cancers using circulating tumor DNA. Sci Transl Med. 2017;9(403):pii: eaan2415. DOI:10.1126/scitranslmed.aan2415.
   PubMed Web of Science ®Google Scholar
• Ilie M, Long E, Butori C, et al. ALK-gene rearrangement: a comparative analysis on circulating tumour cells and tumour tissue from patients with lung adenocarcinoma. Ann Oncol. 2012;23(11):2907–2913.
   PubMed Web of Science ®Google Scholar
• Jardel P, Sauerwein W, Olivier T, et al. Management of choroidal metastases. Cancer Treat Rev. 2014;40(10):1119–1128.
   PubMed Web of Science ®Google Scholar
• Kwak EL, Jankowski J, Thayer SP, et al. Epidermal growth factor receptor kinase domain mutations in esophageal and pancreatic adenocarcinomas. Clin Cancer Res. 2006;12(14 Pt 1):4283–4287.
   PubMed Web of Science ®Google Scholar
• Perisanidis C. Prevalence of EGFR tyrosine kinase domain mutations in head and neck squamous cell carcinoma: cohort study and systematic review. In Vivo. 2017;31(1):23–34.
   PubMed Web of Science ®Google Scholar
• Maskell D, Geropantas K, Kouroupis M, et al. Treatment of choice for patients with EGFR mutation–positive non-small cell lung carcinoma presenting with choroidal metastases: radiotherapy or TKIs? Can J Ophthalmol. 2017;52:e22–e25.
   PubMed Web of Science ®Google Scholar
• Oxnard GR, Miller VA, Robson ME, et al. Screening for germline EGFR T790M mutations through lung cancer genotyping. J Thorac Oncol. 2012;7(6):1049–1052.
   PubMed Web of Science ®Google Scholar
• Do H, Dobrovic A. Dramatic reduction of sequence artefacts from DNA isolated from formalin-fixed cancer biopsies by treatment with uracil- DNA glycosylase. Oncotarget. 2012;3(5):546–558.
   PubMed Web of Science ®Google Scholar
• Do H, Molania R, Mitchell PL, et al.. Reducing artifactual EGFR T790M mutations in DNA from formalin-fixed paraffin-embedded tissue by use of thymine-DNA glycosylase. Clin Chem. 2017 Jul 18:pii: clinchem.2017.271932. DOI:10.1373/clinchem.2017.271932.
   Web of Science ®Google Scholar
• Malapelle U, Sirera R, Jantus-Lewintre E, et al. Profile of the Roche COBAS® EGFR mutation test v2 for non-small cell lung cancer. Expert Rev Mol Diagn. 2017;17(3):209–215.
   PubMed Web of Science ®Google Scholar
• Zhang Y, Xu Y, Zhong W, et al. Total DNA input is a crucial determinant of the sensitivity of plasma cell-free DNA EGFR mutation detection using droplet digital PCR. Oncotarget. 2017;8(4):5861–5873.
   PubMed Web of Science ®Google Scholar
• Fujiwaraa A, Higashiyamaa M, Kanoua T, et al. Bilateral ovarian metastasis of non-small cell lung cancer with ALK rearrangement. Lung Cancer. 2014;83:302–304.
   PubMed Web of Science ®Google Scholar
• Baldi L, Mengoli MC, Bisagni A, et al. Concomitant EGFR mutation and ALK rearrangement in lung adenocarcinoma is more frequent than expected: report of a case and review of the literature with demonstration of genes alteration into the same tumor cells. Lung Cancer. 2014;86(2):291–295.
   PubMed Web of Science ®Google Scholar
• Galetta D, Catino A, Misino A. Concomitant EGFR mutations/ALK rearrangements: beyond a simple dual target. Transl Lung Cancer Res. 2016;5(1):143–144.
   PubMed Web of Science ®Google Scholar
• Li Y, Su S, Cai G, et al. Responses to crizotinib and chemotherapy in patients with lung adenocarcinoma harboring a concomitant EGFR mutation and ALK gene rearrangement: a case report and review of the literature. Mol Clin Oncol. 2017;7(2):173–182.
   PubMedGoogle Scholar
• Hofman V, Ilie M, Long E, et al. Detection of circulating tumor cells from lung cancer patients in the era of targeted therapy: promises, drawbacks and pitfalls. Curr Mol Med. 2014;14(4):440–456.
   PubMed Web of Science ®Google Scholar
• Ilie M, Hofman V, Long E, et al. Current challenges for detection of circulating tumor cells and cell-free circulating nucleic acids, and their characterization in non-small cell lung carcinoma patients. What is the best blood substrate for personalized medicine? Ann Transl Med. 2014;2(11):107.
   PubMedGoogle Scholar
• Nilsson RJ, Karachaliou N, Berenguer J, et al. Rearranged EML4-ALK fusion transcripts sequester in circulating blood platelets and enable blood-based crizotinib response monitoring in non-small-cell lung cancer. Oncotarget. 2016;7(1):1066–1075.
   PubMed Web of Science ®Google Scholar
• Hofman V, Ilie MI, Long E, et al. Detection of circulating tumor cells as a prognostic factor in patients undergoing radical surgery for non-small-cell lung carcinoma: comparison of the efficacy of the CellSearch Assay™ and the isolation by size of epithelial tumor cell method. Int J Cancer. 2011;129(7):1651–1660.
   PubMed Web of Science ®Google Scholar
• Krebs MG, Hou JM, Sloane R, et al. Analysis of circulating tumor cells in patients with non-small cell lung cancer using epithelial marker-dependent and -independent approaches. J Thorac Oncol. 2012;7(2):306–315.
   PubMed Web of Science ®Google Scholar
• Parpart-Li S, Bartlett B, Popoli M, et al. The effect of preservative and temperature on the analysis of circulating tumor DNA. Clin Cancer Res. 2017;23(10):2471–2477.
   PubMed Web of Science ®Google Scholar
• Müllauer L. Milestones in pathology-from histology to molecular biology. Memo. 2017;10(1):42–45.
   PubMedGoogle Scholar