Spectrum of gene mutations detected by next generation exome sequencing in brain metastases of lung adenocarcinoma

European Journal of Cancer

Volumn 51, Issue 13, 2015, Pages 1803-1811

  Preusser, Matthias ^a,d   Berghoff, Anna S ^a,d   Koller, Romina ^a,d   Zielinski, Christoph C ^a,d   Hainfellner, Johannes A ^b,d   Liebmann Reindl, Sandra ^a   Popitsch, Niko ^a   Geier, Christoph B ^c   Streubel, Berthold ^a,d   Birner, Peter ^a,d  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c Immunology Outpatient Clinic   (Austria)

^d UNIV KLIN FÜR FRAUENHEILKUNDE   (Austria)

Author keywords

Adenocarcinoma; BRAF mutation; Brain metastases; EGFR mutation; Lung cancer

Indexed keywords

ABL1 PROTEIN; APC PROTEIN; ATM PROTEIN; B RAF KINASE; CD135 ANTIGEN; CYCLIN DEPENDENT KINASE INHIBITOR 2A; EPIDERMAL GROWTH FACTOR RECEPTOR; EPIDERMAL GROWTH FACTOR RECEPTOR 2; EPIDERMAL GROWTH FACTOR RECEPTOR 4; FBXW7 PROTEIN; FIBROBLAST GROWTH FACTOR RECEPTOR 1; FIBROBLAST GROWTH FACTOR RECEPTOR 3; GNA11 PROTEIN; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; K RAS PROTEIN; NOTCH1 RECEPTOR; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PHOSPHATIDYLINOSITOL 4,5 BISPHOSPHATE 3 KINASE; PROTEIN; PROTEIN KINASE LKB1; PROTEIN P53; PROTEIN RET; SCATTER FACTOR RECEPTOR; SMAD4 PROTEIN; SMOOTHENED PROTEIN; UNCLASSIFIED DRUG; VASCULOTROPIN RECEPTOR 2; VON HIPPEL LINDAU PROTEIN; TUMOR MARKER;

ADULT; AGED; ARTICLE; BRAIN METASTASIS; CANCER DIAGNOSIS; COHORT ANALYSIS; CORRELATIONAL STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; HUMAN; LUNG ADENOCARCINOMA; MAJOR CLINICAL STUDY; MALE; NEXT GENERATION SEQUENCING; OVERALL SURVIVAL; PRIORITY JOURNAL; SMOKING; TUMOR GENE; ADENOCARCINOMA; BIOLOGY; BRAIN NEOPLASMS; DNA MUTATIONAL ANALYSIS; EXOME; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HIGH THROUGHPUT SEQUENCING; LUNG NEOPLASMS; MIDDLE AGED; MUTATION; PATHOLOGY; PHENOTYPE; PREDICTIVE VALUE; PROCEDURES; PROGNOSIS; RETROSPECTIVE STUDY; SECONDARY;

ADENOCARCINOMA; AGED; BIOMARKERS, TUMOR; BRAIN NEOPLASMS; COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; LUNG NEOPLASMS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; PREDICTIVE VALUE OF TESTS; PROGNOSIS; RETROSPECTIVE STUDIES;

EID: 84938746748     PISSN: 09598049     EISSN: 18790852     Source Type: Journal    
DOI: 10.1016/j.ejca.2015.06.107     Document Type: Article

References (32)

1. T.E. Stinchcombe, and M.A. Socinski Current treatments for advanced stage non-small cell lung cancer Proc Am Thorac Soc 6 2 2009 233 241
2. A. Zer, and N. Leighl Promising Targets and Current Clinical Trials in Metastatic Non-Squamous NSCLC Front Oncol 4 2014 329
3. T. Kawabe, J.H. Phi, M. Yamamoto, and et al. Treatment of brain metastasis from lung cancer Prog Neurol Surg 25 2012 148 155
4. J.W. Welsh, R. Komaki, A. Amini, and et al. Phase II trial of erlotinib plus concurrent whole-brain radiation therapy for patients with brain metastases from non-small-cell lung cancer J Clin Oncol 31 7 2013 895 902
5. S.M. Gadgeel, L. Gandhi, G.J. Riely, and et al. Safety and activity of alectinib against systemic disease and brain metastases in patients with crizotinib-resistant ALK-rearranged non-small-cell lung cancer (AF-002JG): results from the dose-finding portion of a phase 1/2 study Lancet Oncol 15 10 2014 1119 1128
6. H. Kaneda, I. Okamoto, and K. Nakagawa Rapid response of brain metastasis to crizotinib in a patient with ALK rearrangement-positive non-small-cell lung cancer J Thorac Oncol 8 4 2013 e32 e33
7. S.D. Robinson, J.A. O'Shaughnessy, C.L. Cowey, and K. Konduri BRAF V600E-mutated lung adenocarcinoma with metastases to the brain responding to treatment with vemurafenib Lung Cancer 85 2 2014 326 330
8. A.S. Berghoff, A. Ilhan-Mutlu, C. Dinhof, and et al. Differential role of angiogenesis and tumor cell proliferation in brain metastases according to primary tumor type: analysis of 639 cases Neuropathol Appl Neurobiol 2014
9. A.S. Berghoff, A.K. Kovanda, T. Melchardt, and et al. Alphavbeta3, alphavbeta5 and alphavbeta6 integrins in brain metastases of lung cancer Clin Exp Metastasis 31 7 2014 841 851
10. M. Preusser, A.S. Berghoff, A. Ilhan-Mutlu, and et al. ALK gene translocations and amplifications in brain metastases of non-small cell lung cancer Lung Cancer 80 3 2013 278 283
11. A.S. Berghoff, A. Ilhan-Mutlu, A. Wohrer, and et al. Prognostic significance of Ki67 proliferation index, HIF1 alpha index and microvascular density in patients with non-small cell lung cancer brain metastases Strahlenthera Onkol 190 7 2014 676 685
12. F.J. Sedlazeck, P. Rescheneder, and A. von Haeseler NextGenMap: fast and accurate read mapping in highly polymorphic genomes Bioinformatics 29 21 2013 2790 2791
13. H. Li, and R. Durbin Fast and accurate long-read alignment with Burrows-Wheeler transform Bioinformatics 26 5 2010 589 595
14. B. Langmead, and S.L. Salzberg Fast gapped-read alignment with Bowtie 2 Nat Methods 9 4 2012 357 359
15. M. Preusser, A.S. Berghoff, W. Berger, and et al. High rate of FGFR1 amplifications in brain metastases of squamous and non-squamous lung cancer Lung Cancer 83 1 2014 83 89
16. M.A. DePristo, E. Banks, R. Poplin, and et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data Nat Genet 43 5 2011 491 498
17. H. Li, B. Handsaker, A. Wysoker, and et al. The sequence alignment/map format and SAMtools Bioinformatics 25 16 2009 2078 2079
18. K. Wang, M. Li, and H. Hakonarson ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data Nucleic Acids Res 38 16 2010 e164
19. R. Bender, and S. Lange Adjusting for multiple testing-when and how? J Clin Epidemiol 54 4 2001 343 349
20. B. Weber, H. Hager, B.S. Sorensen, and et al. EGFR mutation frequency and effectiveness of erlotinib: a prospective observational study in Danish patients with non-small cell lung cancer Lung Cancer 83 2 2014 224 230
21. I.S. Hagemann, S. Devarakonda, C.M. Lockwood, and et al. Clinical next-generation sequencing in patients with non-small cell lung cancer Cancer 2014
22. I.Y. Tam, L.P. Chung, W.S. Suen, and et al. Distinct epidermal growth factor receptor and KRAS mutation patterns in non-small cell lung cancer patients with different tobacco exposure and clinicopathologic features Clin Cancer Res 12 5 2006 1647 1653
23. C. Gomez-Roca, C.M. Raynaud, F. Penault-Llorca, and et al. Differential expression of biomarkers in primary non-small cell lung cancer and metastatic sites J Thorac Oncol 4 10 2009 1212 1220
24. M. Preusser, D. Capper, A. Ilhan-Mutlu, and et al. Brain metastases: pathobiology and emerging targeted therapies Acta Neuropathol 123 2 2012 205 222
25. F. Burel-Vandenbos, D. Ambrosetti, M. Coutts, and F. Pedeutour EGFR mutation status in brain metastases of non-small cell lung carcinoma J Neurooncol 111 1 2013 1 10
26. D.W. Lee, D.Y. Shin, J.W. Kim, and et al. Additional prognostic role of EGFR activating mutations in lung adenocarcinoma patients with brain metastasis: integrating with lung specific GPA score Lung Cancer 86 3 2014 363 368
27. M. Preusser, B. Streubel, A.S. Berghoff, and et al. Amplification and overexpression of CMET is a common event in brain metastases of non-small cell lung cancer Histopathology 65 5 2014 684 692
28. M. Preusser, F. Winkler, L. Collette, and et al. Trial design on prophylaxis and treatment of brain metastases: lessons learned from the EORTC Brain Metastases Strategic Meeting 2012 Eur J Cancer 48 18 2012 3439 3447
29. A.S. Berghoff, R. Bartsch, A. Wohrer, and et al. Predictive molecular markers in metastases to the central nervous system: recent advances and future avenues Acta Neuropathol 128 6 2014 879 891
30. A. Snyder, V. Makarov, T. Merghoub, and et al. Genetic basis for clinical response to CTLA-4 blockade in melanoma N Engl J Med 371 23 2014 2189 2199
31. M.S. Lawrence, P. Stojanov, P. Polak, and et al. Mutational heterogeneity in cancer and the search for new cancer-associated genes Nature 499 7457 2013 214 218
32. N.A. Rizvi, M.D. Hellmann, A. Snyder, and et al. Cancer immunology. Mutational landscape determines sensitivity to PD-1 blockade in non-small cell lung cancer Science 348 6230 2015 124 128