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Personalized cancer medicine and the future of pathology

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Abstract

In February 2011, a group of pathologists from different departments in Europe met in Zurich, Switzerland, to discuss opportunities and challenges for pathology in the era of personalized medicine. The major topics of the meeting were assessment of the role of pathology in personalized medicine, its future profile among other biomedical disciplines with an interest in personalized medicine as well as the evolution of companion diagnostics. The relevance of novel technologies for genome analysis in clinical practice was discussed. The participants recognize that there should be more initiatives taken by the pathology community in companion diagnostics and in the emerging field of next-generation sequencing and whole genome analysis. The common view of the participants was that the pathology community has to be mobilized for stronger engagement in the future of personalized medicine. Pathologists should be aware of the challenges and the analytical opportunities of the new technologies. Challenges of clinical trial design as well as insurance and reimbursement questions were addressed. The pathology community has the responsibility to lead medical colleagues into embracing this new area of genomic medicine. Without this effort, the discipline of pathology risks losing its key position in molecular tissue diagnostics.

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References

  1. Stricker T, Catenacci DV, Seiwert TY (2011) Molecular profiling of cancer—the future of personalized cancer medicine: a primer on cancer biology and the tools necessary to bring molecular testing to the clinic. Semin Oncol 38:173–185

    Article  PubMed  Google Scholar 

  2. Perou CM, Sorlie T, Eisen MB et al (2000) Molecular portraits of human breast tumours. Nature 406:747–752

    Article  PubMed  CAS  Google Scholar 

  3. Alizadeh AA, Eisen MB, Davis RE et al (2000) Distinct types of diffuse large B-cell lymphoma identified by gene expression profiling. Nature 403:503–511

    Article  PubMed  CAS  Google Scholar 

  4. Geyer CE, Forster J, Lindquist D et al (2006) Lapatinib plus capecitabine for HER2-positive advanced breast cancer. N Engl J Med 355:2733–2743

    Article  PubMed  CAS  Google Scholar 

  5. Hortobagyi GN (2005) Trastuzumab in the treatment of breast cancer. N Engl J Med 353:1734–1736

    Article  PubMed  CAS  Google Scholar 

  6. Rubin BP, Heinrich MC, Corless CL (2007) Gastrointestinal stromal tumour. Lancet 369:1731–1741

    Article  PubMed  CAS  Google Scholar 

  7. Lynch TJ, Bell DW, Sordella R et al (2004) Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N Engl J Med 350:2129–2139

    Article  PubMed  CAS  Google Scholar 

  8. Maemondo M, Inoue A, Kobayashi K et al (2010) Gefitinib or chemotherapy for non-small-cell lung cancer with mutated EGFR. N Engl J Med 362:2380–2388

    Article  PubMed  CAS  Google Scholar 

  9. Flaherty KT, Puzanov I, Kim KB et al (2010) Inhibition of mutated, activated BRAF in metastatic melanoma. N Engl J Med 363:809–819

    Article  PubMed  CAS  Google Scholar 

  10. Soda M, Choi YL, Enomoto M et al (2007) Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer. Nature 448:561–566

    Article  PubMed  CAS  Google Scholar 

  11. Amado RG, Wolf M, Peeters M et al (2008) Wild-type KRAS is required for panitumumab efficacy in patients with metastatic colorectal cancer. J Clin Oncol 26:1626–1634

    Article  PubMed  CAS  Google Scholar 

  12. Jimeno A, Messersmith WA, Hirsch FR, Franklin WA, Eckhardt SG (2009) KRAS mutations and sensitivity to epidermal growth factor receptor inhibitors in colorectal cancer: practical application of patient selection. J Clin Oncol 27:1130–1136

    Article  PubMed  CAS  Google Scholar 

  13. Gabrielson E, Berg K, Anbazhagan R (2001) Functional genomics, gene arrays, and the future of pathology. Mod Pathol 14:1294–1299

    Article  PubMed  CAS  Google Scholar 

  14. Anonymous (2011) Getting personal. Nature 473:253–254

    Google Scholar 

  15. Luciano JS, Andersson B, Batchelor C et al (2011) The translational medicine ontology and knowledge base: driving personalized medicine by bridging the gap between bench and bedside. J Biomed Semantics 2(Suppl 2):S1

    Article  PubMed  Google Scholar 

  16. Dahinden C, Ingold B, Wild P et al (2010) Mining tissue microarray data to uncover combinations of biomarker expression patterns that improve intermediate staging and grading of clear cell renal cell cancer. Clin Cancer Res 16:88–98

    Article  PubMed  CAS  Google Scholar 

  17. Jones S, Zhang X, Parsons DW et al (2008) Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. Science 321:1801–1806

    Article  PubMed  CAS  Google Scholar 

  18. Carracedo A, Ma L, Teruya-Feldstein J et al (2008) Inhibition of mTORC1 leads to MAPK pathway activation through a PI3K-dependent feedback loop in human cancer. J Clin Invest 118:3065–3074

    PubMed  CAS  Google Scholar 

  19. Tonellato PJ, Crawford JM, Boguski MS, Saffitz JE (2011) A national agenda for the future of pathology in personalized medicine: report of the proceedings of a meeting at the Banbury Conference Center on genome-era pathology, precision diagnostics, and preemptive care: a stakeholder summit. Am J Clin Pathol 135:668–672

    Article  PubMed  Google Scholar 

  20. Salzberg SL, Pertea M (2010) Do-it-yourself genetic testing. Genome Biol 11:404

    Article  PubMed  CAS  Google Scholar 

  21. Blank PR, Moch H, Szucs TD, Schwenkglenks M (2011) KRAS and BRAF mutation analysis in metastatic colorectal cancer: a cost-effectiveness analysis from a Swiss perspective. Clin Cancer Res 17:6338–6346

    Article  PubMed  CAS  Google Scholar 

  22. Blank PR, Schwenkglenks M, Moch H, Szucs TD (2010) Human epidermal growth factor receptor 2 expression in early breast cancer patients: a Swiss cost-effectiveness analysis of different predictive assay strategies. Breast Cancer Res Treat 124:497–507

    Article  PubMed  CAS  Google Scholar 

  23. Paik S, Shak S, Tang G et al (2004) A multigene assay to predict recurrence of tamoxifen-treated, node-negative breast cancer. N Engl J Med 351:2817–2826

    Article  PubMed  CAS  Google Scholar 

  24. Blank PR, Dedes KJ, Szucs TD (2010) Cost effectiveness of cytotoxic and targeted therapy for metastatic breast cancer: a critical and systematic review. PharmacoEconomics 28:629–647

    Article  PubMed  Google Scholar 

  25. Roth AD, Tejpar S, Delorenzi M et al (2010) Prognostic role of KRAS and BRAF in stage II and III resected colon cancer: results of the translational study on the PETACC-3, EORTC 40993, SAKK 60–00 trial. J Clin Oncol 28:466–474

    Article  PubMed  CAS  Google Scholar 

  26. Palanisamy N, Ateeq B, Kalyana-Sundaram S et al (2010) Rearrangements of the RAF kinase pathway in prostate cancer, gastric cancer and melanoma. Nat Med 16:793–798

    Article  PubMed  CAS  Google Scholar 

  27. AMP Whole Genome Analysis Working Group (2011) The Association for Molecular Pathology’s approach to supporting a global agenda to embrace personalized genomic medicine. J Mol Diagn 13:249–251

    Article  Google Scholar 

  28. Dietel M, Sers C (2006) Personalized medicine and development of targeted therapies: the upcoming challenge for diagnostic molecular pathology. A review. Virchows Arch 448:744–755

    Article  PubMed  Google Scholar 

  29. Pirker R, Herth FJ, Kerr KM et al (2010) Consensus for EGFR mutation testing in non-small cell lung cancer: results from a European workshop. J Thorac Oncol 5:1706–1713

    Article  PubMed  Google Scholar 

  30. Marchetti A, Normanno N, Pinto C et al (2010) Recommendations for mutational analysis of EGFR in lung carcinoma. Pathologica 102:119–126

    PubMed  CAS  Google Scholar 

  31. Kulesza P, Ramchandran K, Patel JD (2011) Emerging concepts in the pathology and molecular biology of advanced non-small cell lung cancer. Am J Clin Pathol 136:228–238

    Article  PubMed  CAS  Google Scholar 

  32. van Krieken JH, Jung A, Kirchner T et al (2008) KRAS mutation testing for predicting response to anti-EGFR therapy for colorectal carcinoma: proposal for an European quality assurance program. Virchows Arch 453:417–431

    Article  PubMed  Google Scholar 

  33. Macconaill LE, Van Hummelen P, Meyerson M, Hahn WC (2011) Clinical implementation of comprehensive strategies to characterize cancer genomes: opportunities and challenges. Cancer Discov 1:297

    Article  PubMed  CAS  Google Scholar 

  34. Cagle PT, Allen TC, Dacic S et al (2011) Revolution in lung cancer: new challenges for the surgical pathologist. Arch Pathol Lab Med 135:110–116

    PubMed  Google Scholar 

  35. Kerr K (2011) Personalized medicine for lung cancer: new challenges for pathology. Histopathology. doi:10.1111/j.1365-2559.2011.03854.x

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Acknowledgments

We thank Mrs. B. Terrier for support in writing this article. The panel meeting of European pathologists held at the Institute of Surgical Pathology Zurich, Switzerland, was supported by Pfizer Inc.

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Correspondence to H. Moch.

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Moch, H., Blank, P.R., Dietel, M. et al. Personalized cancer medicine and the future of pathology. Virchows Arch 460, 3–8 (2012). https://doi.org/10.1007/s00428-011-1179-6

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