nach oben

Cellular Oncology

Erschienen in:

01.02.2015 | Original Paper

Obstacles to precision oncology: confronting current factors affecting the successful introduction of biomarkers to the clinic

verfasst von: Ludmila Prudkin, Paolo Nuciforo

Erschienen in: Cellular Oncology | Ausgabe 1/2015

Einloggen, um Zugang zu erhalten

Abstract

Background

Tailoring treatment strategies to individual patients requires the availability of reliable biomarkers. Despite important investment in biomarker research, few examples of successful biomarker-drug co-development are currently seen in clinical practice. The validity of a biomarker measurement may be affected by different pre-analytical, analytical and post-analytical factors. The lack of control or oversight of any of these factors may ultimately lead to failure in translating a promising research finding into clinical practice. In the present review, we put into perspective some of the obstacles to “precision” oncology, focusing on the technical and biological hurdles that may affect the validity of a biomarker result and, ultimately, the likelihood of a new targeted agent to reach the clinic.

Conclusion

Biomarker application in precision oncology must consider the evolution of neoplastic disease, evaluate strengths and limitations of the platform used for the determination, and efficiently address specimen type and handling issues. In-depth analytical validation of a new biomarker test that includes evaluation of target stability should be performed before the test is used in clinical samples. More efficient sampling and use of high-sensitivity methodologies may overcome the influence of tumor heterogeneity on biomarker measurement. Clinical trials with biomarker endpoints may only be successful when multidisciplinary academic study teams are involved and results meet the highest quality standards.

J. Woodcock, Molecular medicine: how, what, and when? Clin. Pharmacol. Ther. 82(4), 376–8 (2007)CrossRefPubMed

Biomarkers and surrogate endpoints: preferred definitions and conceptual framework. Clin Pharmacol Ther. 69(3): 89–95 (2001)

R. Katz, Biomarkers and surrogate markers: an FDA perspective. NeuroRx 1(2), 189–95 (2004)CrossRefPubMedCentralPubMed

E.P. Diamandis, B.R. Hoffman, C.M. Sturgeon, National academy of clinical biochemistry laboratory medicine practice guidelines for the use of tumor markers. Clin. Chem. 54(11), 1935–9 (2008)CrossRefPubMed

C.M. Sturgeon, B.R. Hoffman, D.W. Chan, S.L. Ch’ng, E. Hammond, D.F. Hayes, L.A. Liotta, E.F. Petricoin, M. Schmitt, O.J. Semmes, G. Soletormos, E. van der Merwe, E.P. Diamandis, National academy of clinical biochemistry laboratory medicine practice guidelines for use of tumor markers in clinical practice: quality requirements. Clin. Chem. 54(8), e1–e10 (2008)CrossRefPubMed

S.M. Teutsch, L.A. Bradley, G.E. Palomaki, J.E. Haddow, M. Piper, N. Calonge, W.D. Dotson, M.P. Douglas, A.O. Berg, The evaluation of genomic applications in practice and prevention (EGAPP) initiative: methods of the EGAPP working group. Genet. Med. 11(1), 3–14 (2009)CrossRefPubMedCentralPubMed

G.C. Wishart, C.D. Bajdik, E. Dicks, E. Provenzano, M.K. Schmidt, M. Sherman, D.C. Greenberg, A.R. Green, K.A. Gelmon, V.M. Kosma, J.E. Olson, M.W. Beckmann, R. Winqvist, S.S. Cross, G. Severi, D. Huntsman, K. Pylkas, I. Ellis, T.O. Nielsen, G. Giles, C. Blomqvist, P.A. Fasching, F.J. Couch, E. Rakha, W.D. Foulkes, F.M. Blows, L.R. Begin, L.J. van’t Veer, M. Southey, H. Nevanlinna, A. Mannermaa, A. Cox, M. Cheang, L. Baglietto, C. Caldas, M. Garcia-Closas, P.D. Pharoah, PREDICT Plus: development and validation of a prognostic model for early breast cancer that includes HER2. Br. J. Cancer 107(5), 800–7 (2012)CrossRefPubMedCentralPubMed

L.M. McShane, D.G. Altman, W. Sauerbrei, S.E. Taube, M. Gion, G.M. Clark, Reporting recommendations for tumor marker prognostic studies (remark). J. Natl. Cancer Inst. 97(16), 1180–4 (2005)CrossRefPubMed

C. Marchio, M. Dowsett, J.S. Reis-Filho, Revisiting the technical validation of tumour biomarker assays: how to open a Pandora’s box. BMC Med. 9, 41 (2011)CrossRefPubMedCentralPubMed

10.

C.L. Vogel, M.A. Cobleigh, D. Tripathy, J.C. Gutheil, L.N. Harris, L. Fehrenbacher, D.J. Slamon, M. Murphy, W.F. Novotny, M. Burchmore, S. Shak, S.J. Stewart, M. Press, Efficacy and safety of trastuzumab as a single agent in first-line treatment of HER2-overexpressing metastatic breast cancer. J. Clin. Oncol. 20(3), 719–26 (2002)CrossRefPubMed

11.

E.H. Romond, E.A. Perez, J. Bryant, V.J. Suman, C.E. Geyer Jr., N.E. Davidson, E. Tan-Chiu, S. Martino, S. Paik, P.A. Kaufman, S.M. Swain, T.M. Pisansky, L. Fehrenbacher, L.A. Kutteh, V.G. Vogel, D.W. Visscher, G. Yothers, R.B. Jenkins, A.M. Brown, S.R. Dakhil, E.P. Mamounas, W.L. Lingle, P.M. Klein, J.N. Ingle, N. Wolmark, Trastuzumab plus adjuvant chemotherapy for operable HER2-positive breast cancer. N. Engl. J. Med. 353(16), 1673–84 (2005)CrossRefPubMed

12.

A. Marchetti, C. Martella, L. Felicioni, F. Barassi, S. Salvatore, A. Chella, P.P. Camplese, T. Iarussi, F. Mucilli, A. Mezzetti, F. Cuccurullo, R. Sacco, F. Buttitta, EGFR mutations in non-small-cell lung cancer: analysis of a large series of cases and development of a rapid and sensitive method for diagnostic screening with potential implications on pharmacologic treatment. J. Clin. Oncol. 23(4), 857–65 (2005)CrossRefPubMed

13.

K.T. Flaherty, I. Puzanov, K.B. Kim, A. Ribas, G.A. McArthur, J.A. Sosman, P.J. O’Dwyer, R.J. Lee, J.F. Grippo, K. Nolop, P.B. Chapman, Inhibition of mutated, activated BRAF in metastatic melanoma. N. Engl. J. Med. 363(9), 809–19 (2010)CrossRefPubMedCentralPubMed

14.

D.F. Ransohoff, M.L. Gourlay, Sources of bias in specimens for research about molecular markers for cancer. J. Clin. Oncol. 28(4), 698–704 (2010)CrossRefPubMedCentralPubMed

15.

D.F. Ransohoff, Bias as a threat to the validity of cancer molecular-marker research. Nat. Rev. Cancer 5(2), 142–9 (2005)CrossRefPubMed

16.

C.A. Hudis, Trastuzumab–mechanism of action and use in clinical practice. N. Engl. J. Med. 357(1), 39–51 (2007)CrossRefPubMed

17.

P.B. Chapman, A. Hauschild, C. Robert, J.B. Haanen, P. Ascierto, J. Larkin, R. Dummer, C. Garbe, A. Testori, M. Maio, D. Hogg, P. Lorigan, C. Lebbe, T. Jouary, D. Schadendorf, A. Ribas, S.J. O’Day, J.A. Sosman, J.M. Kirkwood, A.M. Eggermont, B. Dreno, K. Nolop, J. Li, B. Nelson, J. Hou, R.J. Lee, K.T. Flaherty, G.A. McArthur, Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N. Engl. J. Med. 364(26), 2507–16 (2011)CrossRefPubMedCentralPubMed

18.

T.S. Mok, Y.L. Wu, S. Thongprasert, C.H. Yang, D.T. Chu, N. Saijo, P. Sunpaweravong, B. Han, B. Margono, Y. Ichinose, Y. Nishiwaki, Y. Ohe, J.J. Yang, B. Chewaskulyong, H. Jiang, E.L. Duffield, C.L. Watkins, A.A. Armour, M. Fukuoka, Gefitinib or carboplatin-paclitaxel in pulmonary adenocarcinoma. N. Engl. J. Med. 361(10), 947–57 (2009)CrossRefPubMed

19.

W. De Roock, B. Claes, D. Bernasconi, J. De Schutter, B. Biesmans, G. Fountzilas, K.T. Kalogeras, V. Kotoula, D. Papamichael, P. Laurent-Puig, F. Penault-Llorca, P. Rougier, B. Vincenzi, D. Santini, G. Tonini, F. Cappuzzo, M. Frattini, F. Molinari, P. Saletti, S. De Dosso, M. Martini, A. Bardelli, S. Siena, A. Sartore-Bianchi, J. Tabernero, T. Macarulla, F. Di Fiore, A.O. Gangloff, F. Ciardiello, P. Pfeiffer, C. Qvortrup, T.P. Hansen, E. Van Cutsem, H. Piessevaux, D. Lambrechts, M. Delorenzi, S. Tejpar, Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. Lancet Oncol. 11(8), 753–62 (2010)CrossRefPubMed

20.

S. Querings, J. Altmuller, S. Ansen, T. Zander, D. Seidel, F. Gabler, M. Peifer, E. Markert, K. Stemshorn, B. Timmermann, B. Saal, S. Klose, K. Ernestus, M. Scheffler, W. Engel-Riedel, E. Stoelben, E. Brambilla, J. Wolf, P. Nurnberg, R.K. Thomas, Benchmarking of mutation diagnostics in clinical lung cancer specimens. PLoS One 6(5), e19601 (2011)CrossRefPubMedCentralPubMed

21.

C.R. Taylor, R.M. Levenson, Quantification of immunohistochemistry–issues concerning methods, utility and semiquantitative assessment II. Histopathology 49(4), 411–24 (2006)CrossRefPubMed

22.

M.R. Schweiger, M. Kerick, B. Timmermann, M.W. Albrecht, T. Borodina, D. Parkhomchuk, K. Zatloukal, H. Lehrach, Genome-wide massively parallel sequencing of formaldehyde fixed-paraffin embedded (FFPE) tumor tissues for copy-number- and mutation-analysis. PLoS One 4(5), e5548 (2009)CrossRefPubMedCentralPubMed

23.

E.J. Duncavage, V. Magrini, N. Becker, J.R. Armstrong, R.T. Demeter, T. Wylie, H.J. Abel, J.D. Pfeifer, Hybrid capture and next-generation sequencing identify viral integration sites from formalin-fixed, paraffin-embedded tissue. J. Mol. Diagn. 13(3), 325–33 (2011)CrossRefPubMedCentralPubMed

24.

M. Srinivasan, D. Sedmak, S. Jewell, Effect of fixatives and tissue processing on the content and integrity of nucleic acids. Am. J. Pathol. 161(6), 1961–71 (2002)CrossRefPubMedCentralPubMed

25.

Y. Bai, J. Tolles, H. Cheng, S. Siddiqui, A. Gopinath, E. Pectasides, R.L. Camp, D.L. Rimm, A.M. Molinaro, Quantitative assessment shows loss of antigenic epitopes as a function of pre-analytic variables. Lab. Invest. 91(8), 1253–61 (2011)CrossRefPubMedCentralPubMed

26.

A.F. Baker, T. Dragovich, N.T. Ihle, R. Williams, C. Fenoglio-Preiser, G. Powis, Stability of phosphoprotein as a biological marker of tumor signaling. Clin. Cancer Res. 11(12), 4338–40 (2005)CrossRefPubMed

27.

L. De Cecco, V. Musella, S. Veneroni, V. Cappelletti, I. Bongarzone, M. Callari, B. Valeri, M.A. Pierotti, M.G. Daidone, Impact of biospecimens handling on biomarker research in breast cancer. BMC Cancer 9, 409 (2009)CrossRefPubMedCentralPubMed

28.

K.B. Engel, H.M. Moore, Effects of preanalytical variables on the detection of proteins by immunohistochemistry in formalin-fixed, paraffin-embedded tissue. Arch. Pathol. Lab. Med. 135(5), 537–43 (2011)PubMed

29.

V. Espina, K.H. Edmiston, M. Heiby, M. Pierobon, M. Sciro, B. Merritt, S. Banks, J. Deng, A.J. VanMeter, D.H. Geho, L. Pastore, J. Sennesh, E.F. Petricoin 3rd, L.A. Liotta, A portrait of tissue phosphoprotein stability in the clinical tissue procurement process. Mol. Cell. Proteomics 7(10), 1998–2018 (2008)CrossRefPubMedCentralPubMed

30.

V. Espina, C. Mueller, K. Edmiston, M. Sciro, E.F. Petricoin, L.A. Liotta, Tissue is alive: new technologies are needed to address the problems of protein biomarker pre-analytical variability. Proteomics Clin. Appl. 3(8), 874–882 (2009)CrossRefPubMedCentralPubMed

31.

S.M. Hewitt, F.A. Lewis, Y. Cao, R.C. Conrad, M. Cronin, K.D. Danenberg, T.J. Goralski, J.P. Langmore, R.G. Raja, P.M. Williams, J.F. Palma, J.A. Warrington, Tissue handling and specimen preparation in surgical pathology: issues concerning the recovery of nucleic acids from formalin-fixed, paraffin-embedded tissue. Arch. Pathol. Lab. Med. 132(12), 1929–35 (2008)PubMed

32.

F. Medeiros, C.T. Rigl, G.G. Anderson, S.H. Becker, K.C. Halling, Tissue handling for genome-wide expression analysis: a review of the issues, evidence, and opportunities. Arch. Pathol. Lab. Med. 131(12), 1805–16 (2007)PubMed

33.

P. Micke, M. Ohshima, S. Tahmasebpoor, Z.P. Ren, A. Ostman, F. Ponten, J. Botling, Biobanking of fresh frozen tissue: RNA is stable in nonfixed surgical specimens. Lab. Invest. 86(2), 202–11 (2006)CrossRefPubMed

34.

S. Siddiqui, D.L. Rimm, Pre-analytic variables and phospho-specific antibodies: the Achilles heel of immunohistochemistry. Breast Cancer Res. 12(6), 113 (2010)CrossRefPubMedCentralPubMed

35.

M.E. Hammond, D.F. Hayes, M. Dowsett, D.C. Allred, K.L. Hagerty, S. Badve, P.L. Fitzgibbons, G. Francis, N.S. Goldstein, M. Hayes, D.G. Hicks, S. Lester, R. Love, P.B. Mangu, L. McShane, K. Miller, C.K. Osborne, S. Paik, J. Perlmutter, A. Rhodes, H. Sasano, J.N. Schwartz, F.C. Sweep, S. Taube, E.E. Torlakovic, P. Valenstein, G. Viale, D. Visscher, T. Wheeler, R.B. Williams, J.L. Wittliff, A.C. Wolff, American society of clinical oncology/college of American pathologists guideline recommendations for immunohistochemical testing of estrogen and progesterone receptors in breast cancer. J. Clin. Oncol. 28(16), 2784–95 (2010)CrossRefPubMedCentralPubMed

36.

T. Khoury, Delay to formalin fixation alters morphology and immunohistochemistry for breast carcinoma. Appl. Immunohistochem. Mol. Morphol. 20(6), 531–42 (2012)CrossRefPubMed

37.

V.M. Neumeister, V. Anagnostou, S. Siddiqui, A.M. England, E.R. Zarrella, M. Vassilakopoulou, F. Parisi, Y. Kluger, D.G. Hicks, D.L. Rimm, Quantitative assessment of effect of preanalytic cold ischemic time on protein expression in breast cancer tissues. J. Natl. Cancer Inst. 104(23), 1815–24 (2012)CrossRefPubMedCentralPubMed

38.

B.P. Portier, Z. Wang, E. Downs-Kelly, J.J. Rowe, D. Patil, C. Lanigan, G.T. Budd, D.G. Hicks, D.L. Rimm, R.R. Tubbs, Delay to formalin fixation ’cold ischemia time’: effect on ERBB2 detection by in-situ hybridization and immunohistochemistry. Mod. Pathol. 26(1), 1–9 (2013)CrossRefPubMed

39.

M. Dowsett, T.O. Nielsen, R. A’Hern, J. Bartlett, R.C. Coombes, J. Cuzick, M. Ellis, N.L. Henry, J.C. Hugh, T. Lively, L. McShane, S. Paik, F. Penault-Llorca, L. Prudkin, M. Regan, J. Salter, C. Sotiriou, I.E. Smith, G. Viale, J.A. Zujewski, D.F. Hayes, Assessment of Ki67 in breast cancer: recommendations from the International Ki67 in breast cancer working group. J. Natl. Cancer Inst. 103(22), 1656–64 (2011)CrossRefPubMedCentralPubMed

40.

I.F. Pinhel, F.A. Macneill, M.J. Hills, J. Salter, S. Detre, R. A’Hern, A. Nerurkar, P. Osin, I.E. Smith, M. Dowsett, Extreme loss of immunoreactive p-Akt and p-Erk1/2 during routine fixation of primary breast cancer. Breast Cancer Res. 12(5), R76 (2010)CrossRefPubMedCentralPubMed

41.

J. Huang, R. Qi, J. Quackenbush, E. Dauway, E. Lazaridis, T. Yeatman, Effects of ischemia on gene expression. J. Surg. Res. 99(2), 222–7 (2001)CrossRefPubMed

42.

A. Spruessel, G. Steimann, M. Jung, S.A. Lee, T. Carr, A.K. Fentz, J. Spangenberg, C. Zornig, H.H. Juhl, K.A. David, Tissue ischemia time affects gene and protein expression patterns within minutes following surgical tumor excision. Biotechniques 36(6), 1030–7 (2004)PubMed

43.

N.S. Goldstein, S.M. Hewitt, C.R. Taylor, H. Yaziji, D.G. Hicks, Recommendations for improved standardization of immunohistochemistry. Appl. Immunohistochem. Mol. Morphol. 15(2), 124–33 (2007)CrossRefPubMed

44.

J.H. Williams, B.L. Mepham, D.H. Wright, Tissue preparation for immunocytochemistry. J. Clin. Pathol. 50(5), 422–8 (1997)CrossRefPubMedCentralPubMed

45.

D.A. Arber, Effect of prolonged formalin fixation on the immunohistochemical reactivity of breast markers. Appl. Immunohistochem. Mol. Morphol. 10(2), 183–6 (2002)PubMed

46.

M. Werner, A. Chott, A. Fabiano, H. Battifora, Effect of formalin tissue fixation and processing on immunohistochemistry. Am. J. Surg. Pathol. 24(7), 1016–9 (2000)CrossRefPubMed

47.

Z.P. Ren, J. Sallstrom, C. Sundstrom, M. Nister, Y. Olsson, Recovering DNA and optimizing PCR conditions from microdissected formalin-fixed and paraffin-embedded materials. Pathobiology 68(4–5), 215–7 (2000)CrossRefPubMed

48.

D. Groelz, L. Sobin, P. Branton, C. Compton, R. Wyrich, L. Rainen, Non-formalin fixative versus formalin-fixed tissue: a comparison of histology and RNA quality. Exp. Mol. Pathol. 94(1), 188–94 (2013)CrossRefPubMed

49.

L.A. Garraway, Concordance and discordance in tumor genomic profiling. J. Clin. Oncol. 30(24), 2937–9 (2012)CrossRefPubMed

50.

A. Maitra, I.I. Wistuba, A.F. Gazdar, Microdissection and the study of cancer pathways. Curr. Mol. Med. 1(1), 153–62 (2001)CrossRefPubMed

51.

Y. Otsuka, Y. Ichikawa, C. Kunisaki, G. Matsuda, H. Akiyama, M. Nomura, S. Togo, Y. Hayashizaki, H. Shimada, Correlating purity by microdissection with gene expression in gastric cancer tissue. Scand. J. Clin. Lab. Invest. 67(4), 367–79 (2007)CrossRefPubMed

52.

S. Pena-Llopis, J. Brugarolas, Simultaneous isolation of high-quality DNA, RNA, miRNA and proteins from tissues for genomic applications. Nat. Protoc. 8(11), 2240–55 (2013)CrossRefPubMedCentralPubMed

53.

C.J. Shukla, C.J. Pennington, A.C. Riddick, K.K. Sethia, R.Y. Ball, D.R. Edwards, Laser-capture microdissection in prostate cancer research: establishment and validation of a powerful tool for the assessment of tumour-stroma interactions. BJU Int. 101(6), 765–74 (2008)CrossRefPubMed

54.

K. Yoshihara, M. Shahmoradgoli, E. Martinez, R. Vegesna, H. Kim, W. Torres-Garcia, V. Trevino, H. Shen, P.W. Laird, D.A. Levine, S.L. Carter, G. Getz, K. Stemke-Hale, G.B. Mills, R.G. Verhaak, Inferring tumour purity and stromal and immune cell admixture from expression data. Nat. Commun. 4, 2612 (2013)CrossRefPubMedCentralPubMed

55.

Z. Hodi, J. Chakrabarti, A.H. Lee, J.E. Ronan, C.W. Elston, K.L. Cheung, J.F. Robertson, I.O. Ellis, The reliability of assessment of oestrogen receptor expression on needle core biopsy specimens of invasive carcinomas of the breast. J. Clin. Pathol. 60(3), 299–302 (2007)CrossRefPubMedCentralPubMed

56.

N. McGranahan, R.A. Burrell, D. Endesfelder, M.R. Novelli, C. Swanton, Cancer chromosomal instability: therapeutic and diagnostic challenges. EMBO Rep. 13(6), 528–38 (2012)CrossRefPubMedCentralPubMed

57.

R.A. Burrell, N. McGranahan, J. Bartek, C. Swanton, The causes and consequences of genetic heterogeneity in cancer evolution. Nature 501(7467), 338–45 (2013)CrossRefPubMed

58.

R. Fisher, L. Pusztai, C. Swanton, Cancer heterogeneity: implications for targeted therapeutics. Br. J. Cancer 108(3), 479–85 (2013)CrossRefPubMedCentralPubMed

59.

J. Szollosi, M. Balazs, B.G. Feuerstein, C.C. Benz, F.M. Waldman, ERBB-2 (HER2/neu) gene copy number, p185HER-2 overexpression, and intratumor heterogeneity in human breast cancer. Cancer Res. 55(22), 5400–7 (1995)PubMed

60.

G.G. Chung, M.P. Zerkowski, S. Ghosh, R.L. Camp, D.L. Rimm, Quantitative analysis of estrogen receptor heterogeneity in breast cancer. Lab. Invest. 87(7), 662–9 (2007)CrossRefPubMed

61.

J. Tolles, Y. Bai, M. Baquero, L.N. Harris, D.L. Rimm, A.M. Molinaro, Optimal tumor sampling for immunostaining of biomarkers in breast carcinoma. Breast Cancer Res. 13(3), R51 (2011)CrossRefPubMedCentralPubMed

62.

A. Nassar, A. Radhakrishnan, I.A. Cabrero, G.A. Cotsonis, C. Cohen, Intratumoral heterogeneity of immunohistochemical marker expression in breast carcinoma: a tissue microarray-based study. Appl. Immunohistochem. Mol. Morphol. 18(5), 433–41 (2010)PubMed

63.

A. McLeer-Florin, S. Lantuejoul, Why technical aspects rather than biology explain cellular heterogeneity in ALK-positive non-small cell lung cancer. J Thorac Dis 4(3), 240–1 (2012)PubMedCentralPubMed

64.

Z.Y. Chen, W.Z. Zhong, X.C. Zhang, J. Su, X.N. Yang, Z.H. Chen, J.J. Yang, Q. Zhou, H.H. Yan, S.J. An, H.J. Chen, B.Y. Jiang, T.S. Mok, Y.L. Wu, EGFR mutation heterogeneity and the mixed response to EGFR tyrosine kinase inhibitors of lung adenocarcinomas. Oncologist 17(7), 978–85 (2012)CrossRefPubMedCentralPubMed

65.

K. Kalinsky, A. Heguy, U.K. Bhanot, S. Patil, M.E. Moynahan, PIK3CA mutations rarely demonstrate genotypic intratumoral heterogeneity and are selected for in breast cancer progression. Breast Cancer Res. Treat. 129(2), 635–43 (2011)CrossRefPubMed

66.

D.A. Landau, S.L. Carter, P. Stojanov, A. McKenna, K. Stevenson, M.S. Lawrence, C. Sougnez, C. Stewart, A. Sivachenko, L. Wang, Y. Wan, W. Zhang, S.A. Shukla, A. Vartanov, S.M. Fernandes, G. Saksena, K. Cibulskis, B. Tesar, S. Gabriel, N. Hacohen, M. Meyerson, E.S. Lander, D. Neuberg, J.R. Brown, G. Getz, C.J. Wu, Evolution and impact of subclonal mutations in chronic lymphocytic leukemia. Cell 152(4), 714–26 (2013)CrossRefPubMedCentralPubMed

67.

K. Anderson, C. Lutz, F.W. van Delft, C.M. Bateman, Y. Guo, S.M. Colman, H. Kempski, A.V. Moorman, I. Titley, J. Swansbury, L. Kearney, T. Enver, M. Greaves, Genetic variegation of clonal architecture and propagating cells in leukaemia. Nature 469(7330), 356–61 (2011)CrossRefPubMed

68.

Z.P. Pavelic, L. Pavelic, E.E. Lower, M. Gapany, S. Gapany, E.A. Barker, H.D. Preisler, c-myc, c-erbB-2, and Ki-67 expression in normal breast tissue and in invasive and noninvasive breast carcinoma. Cancer Res. 52(9), 2597–602 (1992)PubMed

69.

G.L. Fota, A. Stepan, R.N. Ciurea, The evaluation of the immunoexpression of Her2/neu oncoprotein in ductal carcinoma in situ in association with invasive ductal carcinoma of the breast. Rom. J. Morphol. Embryol. 53(3 Suppl), 805–10 (2012)PubMed

70.

Y. Yatabe, A.C. Borczuk, C.A. Powell, Do all lung adenocarcinomas follow a stepwise progression? Lung Cancer 74(1), 7–11 (2011)CrossRefPubMedCentralPubMed

71.

P. Zauber, S. Marotta, M. Sabbath-Solitare, KRAS gene mutations are more common in colorectal villous adenomas and in situ carcinomas than in carcinomas. Int J Mol Epidemiol Genet 4(1), 1–10 (2013)PubMedCentralPubMed

72.

A. Miron, M. Varadi, D. Carrasco, H. Li, L. Luongo, H.J. Kim, S.Y. Park, E.Y. Cho, G. Lewis, S. Kehoe, J.D. Iglehart, D. Dillon, D.C. Allred, L. Macconaill, R. Gelman, K. Polyak, PIK3CA mutations in in situ and invasive breast carcinomas. Cancer Res. 70(14), 5674–8 (2010)CrossRefPubMedCentralPubMed

73.

E. Amir, N. Miller, W. Geddie, O. Freedman, F. Kassam, C. Simmons, M. Oldfield, G. Dranitsaris, G. Tomlinson, A. Laupacis, I.F. Tannock, M. Clemons, Prospective study evaluating the impact of tissue confirmation of metastatic disease in patients with breast cancer. J. Clin. Oncol. 30(6), 587–92 (2012)CrossRefPubMed

74.

N. Niikura, J. Liu, N. Hayashi, E.A. Mittendorf, Y. Gong, S.L. Palla, Y. Tokuda, A.M. Gonzalez-Angulo, G.N. Hortobagyi, N.T. Ueno, Loss of human epidermal growth factor receptor 2 (HER2) expression in metastatic sites of HER2-overexpressing primary breast tumors. J. Clin. Oncol. 30(6), 593–9 (2012)CrossRefPubMedCentralPubMed

75.

C. Xiao, Y. Gong, E.Y. Han, A.M. Gonzalez-Angulo, N. Sneige, Stability of HER2-positive status in breast carcinoma: a comparison between primary and paired metastatic tumors with regard to the possible impact of intervening trastuzumab treatment. Ann. Oncol. 22(7), 1547–53 (2011)CrossRefPubMed

76.

E.E. Lower, E. Glass, R. Blau, S. Harman, HER-2/neu expression in primary and metastatic breast cancer. Breast Cancer Res. Treat. 113(2), 301–6 (2009)CrossRefPubMed

77.

A. Fabi, A. Di Benedetto, G. Metro, L. Perracchio, C. Nistico, F. Di Filippo, C. Ercolani, G. Ferretti, E. Melucci, S. Buglioni, I. Sperduti, P. Papaldo, F. Cognetti, M. Mottolese, HER2 protein and gene variation between primary and metastatic breast cancer: significance and impact on patient care. Clin. Cancer Res. 17(7), 2055–64 (2011)CrossRefPubMed

78.

F. Penault-Llorca, R.A. Coudry, W.M. Hanna, R.Y. Osamura, J. Ruschoff, G. Viale, Experts’ opinion: recommendations for retesting breast cancer metastases for HER2 and hormone receptor status. Breast 22(2), 200–2 (2013)CrossRefPubMed

79.

A.M. Gonzalez-Angulo, J. Ferrer-Lozano, K. Stemke-Hale, A. Sahin, S. Liu, J.A. Barrera, O. Burgues, A.M. Lluch, H. Chen, G.N. Hortobagyi, G.B. Mills, F. Meric-Bernstam, PI3K pathway mutations and PTEN levels in primary and metastatic breast cancer. Mol. Cancer Ther. 10(6), 1093–101 (2011)CrossRefPubMedCentralPubMed

80.

J. Dupont Jensen, A.V. Laenkholm, A. Knoop, M. Ewertz, R. Bandaru, W. Liu, W. Hackl, J.C. Barrett, and H. Gardner, PIK3CA mutations may be discordant between primary and corresponding metastatic disease in breast cancer. Clin. Cancer Res. 17(4), 667–77 (2011)CrossRefPubMed

81.

M. Daneshmand, J.E. Hanson, M. Nabavi, J.F. Hilton, L. Vandermeer, F. Kanji, S.F. Dent, M. Clemons, I.A. Lorimer, Detection of PIK3CA mutations in breast cancer bone metastases. ISRN Oncol 2012, 492578 (2012)PubMedCentralPubMed

82.

E. Vakiani, M. Janakiraman, R. Shen, R. Sinha, Z. Zeng, J. Shia, A. Cercek, N. Kemeny, M. D’Angelica, A. Viale, A. Heguy, P. Paty, T.A. Chan, L.B. Saltz, M. Weiser, D.B. Solit, Comparative genomic analysis of primary versus metastatic colorectal carcinomas. J. Clin. Oncol. 30(24), 2956–62 (2012)CrossRefPubMedCentralPubMed

83.

S.E. Baldus, K.L. Schaefer, R. Engers, D. Hartleb, N.H. Stoecklein, H.E. Gabbert, Prevalence and heterogeneity of KRAS, BRAF, and PIK3CA mutations in primary colorectal adenocarcinomas and their corresponding metastases. Clin. Cancer Res. 16(3), 790–9 (2010)CrossRefPubMed

84.

M. Deininger, E. Buchdunger, B.J. Druker, The development of imatinib as a therapeutic agent for chronic myeloid leukemia. Blood 105(7), 2640–53 (2005)CrossRefPubMed

85.

B.E. Johnson, P.A. Janne, Epidermal growth factor receptor mutations in patients with non-small cell lung cancer. Cancer Res. 65(17), 7525–9 (2005)PubMed

86.

A.F. Gazdar, Activating and resistance mutations of EGFR in non-small-cell lung cancer: role in clinical response to EGFR tyrosine kinase inhibitors. Oncogene 28(Suppl 1), S24–31 (2009)CrossRefPubMedCentralPubMed

87.

N.P. Shah, J.M. Nicoll, B. Nagar, M.E. Gorre, R.L. Paquette, J. Kuriyan, C.L. Sawyers, Multiple BCR-ABL kinase domain mutations confer polyclonal resistance to the tyrosine kinase inhibitor imatinib (STI571) in chronic phase and blast crisis chronic myeloid leukemia. Cancer Cell 2(2), 117–25 (2002)CrossRefPubMed

88.

B. Liegl, I. Kepten, C. Le, M. Zhu, G.D. Demetri, M.C. Heinrich, C.D. Fletcher, C.L. Corless, J.A. Fletcher, Heterogeneity of kinase inhibitor resistance mechanisms in GIST. J. Pathol. 216(1), 64–74 (2008)CrossRefPubMedCentralPubMed

89.

K.Y. Su, H.Y. Chen, K.C. Li, M.L. Kuo, J.C. Yang, W.K. Chan, B.C. Ho, G.C. Chang, J.Y. Shih, S.L. Yu, P.C. Yang, Pretreatment epidermal growth factor receptor (EGFR) T790M mutation predicts shorter EGFR tyrosine kinase inhibitor response duration in patients with non-small-cell lung cancer. J. Clin. Oncol. 30(4), 433–40 (2012)CrossRefPubMed

90.

W. Pao, J. Chmielecki, Rational, biologically based treatment of EGFR-mutant non-small-cell lung cancer. Nat. Rev. Cancer 10(11), 760–74 (2010)CrossRefPubMedCentralPubMed

91.

M.F. Rimawi, I.A. Mayer, A. Forero, R. Nanda, M.P. Goetz, A.A. Rodriguez, A.C. Pavlick, T. Wang, S.G. Hilsenbeck, C. Gutierrez, R. Schiff, C.K. Osborne, J.C. Chang, Multicenter phase II study of neoadjuvant lapatinib and trastuzumab with hormonal therapy and without chemotherapy in patients with human epidermal growth factor receptor 2-overexpressing breast cancer: TBCRC 006. J. Clin. Oncol. 31(14), 1726–31 (2013)CrossRefPubMedCentralPubMed

92.

P.C. Roche, V.J. Suman, R.B. Jenkins, N.E. Davidson, S. Martino, P.A. Kaufman, F.K. Addo, B. Murphy, J.N. Ingle, E.A. Perez, Concordance between local and central laboratory HER2 testing in the breast intergroup trial N9831. J. Natl. Cancer Inst. 94(11), 855–7 (2002)CrossRefPubMed

93.

E.A. Perez, V.J. Suman, N.E. Davidson, S. Martino, P.A. Kaufman, W.L. Lingle, P.J. Flynn, J.N. Ingle, D. Visscher, R.B. Jenkins, HER2 testing by local, central, and reference laboratories in specimens from the North Central Cancer Treatment Group N9831 intergroup adjuvant trial. J. Clin. Oncol. 24(19), 3032–8 (2006)CrossRefPubMed

94.

McCullough, A.E., P. Dell’orto, M.M. Reinholz, R.D. Gelber, A.C. Dueck, L. Russo, R.B. Jenkins, S. Andrighetto, B. Chen, C. Jackisch, M. Untch, E.A. Perez, M.J. Piccart-Gebhart, and G. Viale, Central pathology laboratory review of HER2 and ER in early breast cancer: an ALTTO trial [BIG 2-06/NCCTG N063D (Alliance)] ring study. Breast Cancer Res Treat, 2014

95.

M. Mengel, R. von Wasielewski, B. Wiese, T. Rudiger, H.K. Muller-Hermelink, H. Kreipe, Inter-laboratory and inter-observer reproducibility of immunohistochemical assessment of the Ki-67 labelling index in a large multi-centre trial. J. Pathol. 198(3), 292–9 (2002)CrossRefPubMed

96.

Polley, M.Y., S.C. Leung, L.M. McShane, D. Gao, J.C. Hugh, M.G. Mastropasqua, G. Viale, L.A. Zabaglo, F. Penault-Llorca, J.M. Bartlett, A.M. Gown, W.F. Symmans, T. Piper, E. Mehl, R.A. Enos, D.F. Hayes, M. Dowsett, and T.O. Nielsen, An International Ki67 Reproducibility Study. J Natl Cancer Inst, 2013

97.

Geretti, E.P., V; Onsum, M; et al., Quantification of HER2 expression at the single cell level and HER2 intratumoral heterogeneity of breast cancer tissue samples using automated image analysis. Cancer Res, 2012(72).

98.

Wickham T, F.K., A phase I study of MM-302, a HER2- targeted liposomal doxorubicin, in patients with advanced, HER2-positive breast cancer. Cancer Res 2012. 72

99.

B.R. Leyland-Jones, C.B. Ambrosone, J. Bartlett, M.J. Ellis, R.A. Enos, A. Raji, M.R. Pins, J.A. Zujewski, S.M. Hewitt, J.F. Forbes, M. Abramovitz, S. Braga, F. Cardoso, N. Harbeck, C. Denkert, S.D. Jewell, Recommendations for collection and handling of specimens from group breast cancer clinical trials. J. Clin. Oncol. 26(34), 5638–44 (2008)CrossRefPubMedCentralPubMed

100.

S. Loi, W.F. Symmans, J.M. Bartlett, D. Fumagalli, L. Van’t Veer, J.F. Forbes, P. Bedard, C. Denkert, J. Zujewski, G. Viale, L. Pusztai, L.J. Esserman, B.R. Leyland-Jones, Proposals for uniform collection of biospecimens from neoadjuvant breast cancer clinical trials: timing and specimen types. Lancet Oncol. 12(12), 1162–8 (2011)CrossRefPubMed

Titel: Obstacles to precision oncology: confronting current factors affecting the successful introduction of biomarkers to the clinic
verfasst von: Ludmila Prudkin
Paolo Nuciforo
Publikationsdatum: 01.02.2015
Verlag: Springer Netherlands
Erschienen in: Cellular Oncology / Ausgabe 1/2015
Print ISSN: 2211-3428
Elektronische ISSN: 2211-3436
DOI: https://doi.org/10.1007/s13402-014-0192-6

Neu im Fachgebiet Pathologie

Open Access 15.04.2024 | Biomarker | Schwerpunkt: Next Generation Pathology

Springer Medizin

Obstacles to precision oncology: confronting current factors affecting the successful introduction of biomarkers to the clinic

Abstract

Background

Conclusion

Neu im Fachgebiet Pathologie

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren

Personalisierte Medizin in der Onkologie

Springer Medizin

Abstract

Background

Conclusion

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 1/2015

Germline oncopharmacogenetics, a promising field in cancer therapy

Molecular imaging of targeted therapies with positron emission tomography: the visualization of personalized cancer care

We are all individuals… bioinformatics in the personalized medicine era

Intrinsic cancer subtypes-next steps into personalized medicine

Erratum to: Long non-coding RNAs in cancer: implications for personalized therapy

Long non-coding RNAs in cancer: implications for personalized therapy

Neu im Fachgebiet Pathologie

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren

Personalisierte Medizin in der Onkologie