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Expert Review of Molecular Diagnostics Volume 12, 2012 - Issue 6
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Review

Personalized medicine and pharmacogenetic biomarkers: progress in molecular oncology testing

Frank S Ong Department of Biomedical Sciences, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Medical Genetics Institute, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Biomedical Sciences, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA. [email protected]
,
Kingshuk Das Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
,
Jay Wang Baylor College of Medicine, Department of Medicine, Houston, TX 77030, USA; Premiere Oncology, Naples, FL 34102, USA; Baylor College of Medicine, Department of Medicine, Houston, TX 77030, USA; Premiere Oncology, Naples, FL 34102, USA
,
Hana Vakil Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
,
Jane Z Kuo Department of Biomedical Sciences, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Medical Genetics Institute, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Biomedical Sciences, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Medical Genetics Institute, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA
,
Wendell-Lamar B Blackwell Department of Biomedical Sciences, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA
,
Stephen W Lim Department of Medicine, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Medicine, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA
,
Mark O Goodarzi Medical Genetics Institute, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Medicine, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Medical Genetics Institute, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Medicine, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
,
Kenneth E Bernstein Department of Biomedical Sciences, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Pathology and Laboratory Medicine, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Biomedical Sciences, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Pathology and Laboratory Medicine, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA
,
Jerome I Rotter Department of Biomedical Sciences, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Medical Genetics Institute, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Medicine, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Department of Biomedical Sciences, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Medical Genetics Institute, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Medicine, Cedars–Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
&
Wayne W Grody Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA; Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA
 show all
Pages 593-602 | Published online: 09 Jan 2014

References

  • August J. Market watch: emerging companion diagnostics for cancer drugs. Nat. Rev. Drug Discov.9(5), 351 (2010).
  • Williams GH, Stoeber K. The cell cycle and cancer. J. Pathol.226(2), 352–364 (2012).
  • Reis-Filho JS, Pusztai L. Gene expression profiling in breast cancer: classification, prognostication, and prediction. Lancet378(9805), 1812–1823 (2011).
  • Buyse M, Michiels S, Sargent DJ, Grothey A, Matheson A, De Gramont A. Integrating biomarkers in clinical trials. Expert Rev. Mol. Diagn.11(2), 171–182 (2011).
  • Park JW, Kerbel RS, Kelloff GJ et al. Rationale for biomarkers and surrogate end points in mechanism-driven oncology drug development. Clin. Cancer Res.10(11), 3885–3896 (2004).
  • McShane LM, Altman DG, Sauerbrei W, Taube SE, Gion M, Clark GM. Reporting recommendations for tumor marker prognostic studies. J. Clin. Oncol.23(36), 9067–9072 (2005).
  • Clarke PA, Workman P. Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials. J. Clin. Oncol.30(3), 331–333 (2012).
  • Sarker D, Workman P. Pharmacodynamic biomarkers for molecular cancer therapeutics. Adv. Cancer Res.96, 213–268 (2007).
  • Ong FS, Deignan JL, Kuo JZ et al. Clinical utility of pharmacogenetic biomarkers in cardiovascular therapeutics: a challenge for clinical implementation. Pharmacogenomics13(4), 465–475 (2012).
  • Mcshane LM, Altman DG, Sauerbrei W, Taube SE, Gion M, Clark GM. Reporting recommendations for tumor marker prognostic studies (REMARK). J. Natl Cancer Inst.97(16), 1180–1184 (2005).
  • Ciardiello F, Tortora G. EGFR antagonists in cancer treatment. N. Engl. J. Med.358(11), 1160–1174 (2008).
  • Turner N, Tutt A, Ashworth A. Targeting the DNA repair defect of BRCA tumours. Curr. Opin. Pharmacol.5(4), 388–393 (2005).
  • Ashworth A. A synthetic lethal therapeutic approach: poly(ADP) ribose polymerase inhibitors for the treatment of cancers deficient in DNA double-strand break repair. J. Clin. Oncol.26(22), 3785–3790 (2008).
  • Yabroff KR, Warren JL, Brown ML. Costs of cancer care in the USA: a descriptive review. Nat. Clin. Pract. Oncol.4(11), 643–656 (2007).
  • Yabroff KR, Freedman A, Brown ML, Ballard-Barbash R, Mcneel T, Taplin S. Trends in abnormal cancer screening results in the United States of America. J. Med. Screen.14(2), 67–72 (2007).
  • Yabroff KR, Davis WW, Lamont EB et al. Patient time costs associated with cancer care. J. Natl Cancer Inst.99(1), 14–23 (2007).
  • Sawyers C. Targeted cancer therapy. Nature432(7015), 294–297 (2004).
  • Suter TM, Procter M, Van Veldhuisen DJ et al. Trastuzumab-associated cardiac adverse effects in the herceptin adjuvant trial. J. Clin. Oncol.25(25), 3859–3865 (2007).
  • Lievre A, Bachet JB, Le Corre D et al.KRAS mutation status is predictive of response to cetuximab therapy in colorectal cancer. Cancer Res.66(8), 3992–3995 (2006).
  • Linardou H, Dahabreh IJ, Kanaloupiti D et al. Assessment of somatic K-RAS mutations as a mechanism associated with resistance to EGFR-targeted agents: a systematic review and meta-analysis of studies in advanced non-small-cell lung cancer and metastatic colorectal cancer. Lancet Oncol.9(10), 962–972 (2008).
  • Kelloff GJ, Sigman CC. Cancer biomarkers: selecting the right drug for the right patient. Nat. Rev. Drug Discov.11(3), 201–214 (2012).
  • Schilsky RL. Personalized medicine in oncology: the future is now. Nat. Rev. Drug Discov.9(5), 363–366 (2010).
  • Beckman RA, Clark J, Chen C. Integrating predictive biomarkers and classifiers into oncology clinical development programmes. Nat. Rev. Drug Discov.10(10), 735–748 (2011).
  • La Thangue NB, Kerr DJ. Predictive biomarkers: a paradigm shift towards personalized cancer medicine. Nat. Rev. Clin. Oncol.8(10), 587–596 (2011).
  • Lipson D, Capelletti M, Yelensky R et al. Identification of new ALK and RET gene fusions from colorectal and lung cancer biopsies. Nat. Med.18(3), 382–384 (2012).
  • Smalley KS, Sondak VK. Melanoma – an unlikely poster child for personalized cancer therapy. N. Engl. J. Med.363(9), 876–878 (2010).
  • Long GV, Menzies AM, Nagrial AM et al. Prognostic and clinicopathologic associations of oncogenic BRAF in metastatic melanoma. J. Clin. Oncol.29(10), 1239–1246 (2011).
  • Tiacci E, Trifonov V, Schiavoni G et al.BRAF mutations in hairy-cell leukemia. N. Engl. J. Med.364(24), 2305–2315 (2011).
  • Arcaini L, Zibellini S, Boveri E et al. The BRAF V600E mutation in hairy cell leukemia and other mature B-cell neoplasms. Blood119(1), 188–191 (2012).
  • Tiacci E, Schiavoni G, Forconi F et al. Simple genetic diagnosis of hairy cell leukemia by sensitive detection of the BRAF-V600E mutation. Blood119(1), 192–195 (2012).
  • Boyd EM, Bench AJ, Van ‘T Veer MB et al. High resolution melting analysis for detection of BRAF exon 15 mutations in hairy cell leukaemia and other lymphoid malignancies. Br. J. Haematol.155(5), 609–612 (2011).
  • Chapman PB, Hauschild A, Robert C et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N. Engl. J. Med.364(26), 2507–2516 (2011).
  • Arkenau HT, Kefford R, Long GV. Targeting BRAF for patients with melanoma. Br. J. Cancer104(3), 392–398 (2011).
  • Soda M, Choi YL, Enomoto M et al. Identification of the transforming EML4–ALK fusion gene in non-small-cell lung cancer. Nature448(7153), 561–566 (2007).
  • Martelli MP, Sozzi G, Hernandez L et al.EML4–ALK rearrangement in non-small cell lung cancer and non-tumor lung tissues. Am. J. Pathol.174(2), 661–670 (2009).
  • Perner S, Wagner PL, Demichelis F et al.EML4–ALK fusion lung cancer: a rare acquired event. Neoplasia10(3), 298–302 (2008).
  • Inamura K, Takeuchi K, Togashi Y et al.EML4–ALK fusion is linked to histological characteristics in a subset of lung cancers. J. Thorac. Oncol.3(1), 13–17 (2008).
  • Shaw AT, Yeap BY, Mino-Kenudson M et al. Clinical features and outcome of patients with non-small-cell lung cancer who harbor EML4–ALK. J. Clin. Oncol.27(26), 4247–4253 (2009).
  • Mino-Kenudson M, Chirieac LR, Law K et al. A novel, highly sensitive antibody allows for the routine detection of ALK-rearranged lung adenocarcinomas by standard immunohistochemistry. Clin. Cancer Res.16(5), 1561–1571 (2010).
  • Takeuchi K, Choi YL, Soda M et al. Multiplex reverse transcription-PCR screening for EML4–ALK fusion transcripts. Clin. Cancer Res.14(20), 6618–6624 (2008).
  • Kwak EL, Bang YJ, Camidge DR et al. Anaplastic lymphoma kinase inhibition in non-small-cell lung cancer. N. Engl. J. Med.363(18), 1693–1703 (2010).
  • Gridelli C, Ardizzoni A, Ciardiello F et al. Second-line treatment of advanced non-small cell lung cancer. J. Thorac. Oncol.3(4), 430–440 (2008).
  • Maemondo M, Inoue A, Kobayashi K et al. Gefitinib or chemotherapy for non-small-cell lung cancer with mutated EGFR. N. Engl. J. Med.362(25), 2380–2388 (2010).
  • Cappuzzo F, Ciuleanu T, Stelmakh L et al. Erlotinib as maintenance treatment in advanced non-small-cell lung cancer: a multicentre, randomised, placebo-controlled Phase 3 study. Lancet Oncol.11(6), 521–529 (2010).
  • Shepherd FA, Rodrigues Pereira J, Ciuleanu T et al. Erlotinib in previously treated non-small-cell lung cancer. N. Engl. J. Med.353(2), 123–132 (2005).
  • Pao W, Ladanyi M. Epidermal growth factor receptor mutation testing in lung cancer: searching for the ideal method. Clin. Cancer Res.13(17), 4954–4955 (2007).
  • Nagai Y, Miyazawa H, Huqun et al. Genetic heterogeneity of the epidermal growth factor receptor in non-small cell lung cancer cell lines revealed by a rapid and sensitive detection system, the peptide nucleic acid-locked nucleic acid PCR clamp. Cancer Res.65(16), 7276–7282 (2005).
  • Wang HL, Lopategui J, Amin MB, Patterson SD. KRAS mutation testing in human cancers: the pathologist’s role in the era of personalized medicine. Adv. Anat. Pathol.17(1), 23–32 (2010).
  • Anderson SM. Laboratory methods for KRAS mutation analysis. Expert Rev. Mol. Diagn.11(6), 635–642 (2011).
  • Monzon FA, Ogino S, Hammond ME, Halling KC, Bloom KJ, Nikiforova MN. The role of KRAS mutation testing in the management of patients with metastatic colorectal cancer. Arch. Pathol. Lab. Med.133(10), 1600–1606 (2009).
  • Lynch HT, Silva E, Snyder C, Lynch JF. Hereditary breast cancer: part I. Diagnosing hereditary breast cancer syndromes. Breast J.14(1), 3–13 (2008).
  • Silva E, Gatalica Z, Snyder C, Vranic S, Lynch JF, Lynch HT. Hereditary breast cancer: part II. Management of hereditary breast cancer: implications of molecular genetics and pathology. Breast J.14(1), 14–24 (2008).
  • Begg CB, Haile RW, Borg A et al. Variation of breast cancer risk among BRCA1/2 carriers. JAMA299(2), 194–201 (2008).
  • Hartge P, Struewing JP, Wacholder S, Brody LC, Tucker MA. The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. Am. J. Hum. Genet.64(4), 963–970 (1999).
  • Walsh T, Casadei S, Coats KH et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA295(12), 1379–1388 (2006).
  • Campeau PM, Foulkes WD, Tischkowitz MD. Hereditary breast cancer: new genetic developments, new therapeutic avenues. Hum. Genet.124(1), 31–42 (2008).
  • Barnadas A, Estevez LG, Lluch-Hernandez A, Rodriguez-Lescure A, Rodriguez-Sanchez C, Sanchez-Rovira P. An overview of letrozole in postmenopausal women with hormone-responsive breast cancer. Adv. Ther.28(12), 1045–1058 (2011).
  • Tiwary R, Yu W, Degraffenried LA, Sanders BG, Kline K. Targeting cholesterol-rich microdomains to circumvent tamoxifen-resistant breast cancer. Breast Cancer Res.13(6), R120 (2011).
  • Arpino G, Wiechmann L, Osborne CK, Schiff R. Crosstalk between the estrogen receptor and the HER tyrosine kinase receptor family: molecular mechanism and clinical implications for endocrine therapy resistance. Endocr. Rev.29(2), 217–233 (2008).
  • Ellis MJ, Coop A, Singh B et al. Letrozole inhibits tumor proliferation more effectively than tamoxifen independent of HER1/2 expression status. Cancer Res.63(19), 6523–6531 (2003).
  • Schmitt M, Harbeck N, Brunner N et al. Cancer therapy trials employing level-of-evidence-1 disease forecast cancer biomarkers uPA and its inhibitor PAI-1. Expert Rev. Mol. Diagn.11(6), 617–634 (2011).
  • Von Minckwitz G, Eidtmann H, Rezai M et al. Neoadjuvant chemotherapy and bevacizumab for HER2-negative breast cancer. N. Engl. J. Med.366(4), 299–309 (2012).
  • Farmer P, Bonnefoi H, Becette V et al. Identification of molecular apocrine breast tumours by microarray analysis. Oncogene24(29), 4660–4671 (2005).
  • Hu Z, Fan C, Oh DS et al. The molecular portraits of breast tumors are conserved across microarray platforms. BMC Genomics7, 96 (2006).
  • Tonetti DA, Gao W, Escarzaga D, Walters K, Szafran A, Coon JS. PKCalpha and ERbeta are associated with triple-negative breast cancers in African American and Caucasian patients. Int. J. Breast Cancer2012, 740353 (2012).
  • Hodgkinson VC, ELFadl D, Agarwal V et al. Proteomic identification of predictive biomarkers of resistance to neoadjuvant chemotherapy in luminal breast cancer: a possible role for 14–3–3 theta/tau and tBID? J. Proteomics75(4), 1276–1283 (2012).
  • Cheng Q, Chang JT, Geradts J et al. Amplification and high-level expression of heat shock protein 90 marks aggressive phenotypes of human epidermal growth factor receptor 2 negative breast cancer. Breast Cancer Res.14(2), R62 (2012).
  • Shimizu Y, Luk H, Horio D et al. BRCA1-IRES overexpression promotes formation of aggressive breast cancers. PLoS ONE7(4), e34102 (2012).
  • Swerdlow SH. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. International Agency for Research on Cancer, Lyon, France (2008).
  • Quintas-Cardama A, Cortes JE. Chronic myeloid leukemia: diagnosis and treatment. Mayo Clin. Proc.81(7), 973–988 (2006).
  • Geary CG. The story of chronic myeloid leukaemia. Br. J. Haematol.110(1), 2–11 (2000).
  • Guilhot F, Roy L, Tomowiak C. Current treatment strategies in chronic myeloid leukemia. Curr. Opin. Hematol.19(2), 102–109 (2012).
  • Marin D, Ibrahim AR, Lucas C et al. Assessment of BCR–ABL1 transcript levels at 3 months is the only requirement for predicting outcome for patients with chronic myeloid leukemia treated with tyrosine kinase inhibitors. J. Clin. Oncol.30(3), 232–238 (2012).
  • Baccarani M, Saglio G, Goldman J et al. Evolving concepts in the management of chronic myeloid leukemia: recommendations from an expert panel on behalf of the European LeukemiaNet. Blood108(6), 1809–1820 (2006).
  • Quintas-Cardama A, Kantarjian HM, Cortes JE. Mechanisms of primary and secondary resistance to imatinib in chronic myeloid leukemia. Cancer Control16(2), 122–131 (2009).
  • Hughes T, Deininger M, Hochhaus A et al. Monitoring CML patients responding to treatment with tyrosine kinase inhibitors: review and recommendations for harmonizing current methodology for detecting BCR–ABL transcripts and kinase domain mutations and for expressing results. Blood108(1), 28–37 (2006).
  • Foroni L, Gerrard G, Nna E et al. Technical aspects and clinical applications of measuring BCR–ABL1 transcripts number in chronic myeloid leukemia. Am. J. Hematol.84(8), 517–522 (2009).
  • Wang ZY, Chen Z. Acute promyelocytic leukemia: from highly fatal to highly curable. Blood111(5), 2505–2515 (2008).
  • Lo-Coco F, Ammatuna E. The biology of acute promyelocytic leukemia and its impact on diagnosis and treatment. Hematology Am. Soc. Hematol. Educ. Program2006, 156–161, 514 (2006).
  • Villamor N, Costa D, Aymerich M et al. Rapid diagnosis of acute promyelocytic leukemia by analyzing the immunocytochemical pattern of the PML protein with the monoclonal antibody PG-M3. Am. J. Clin. Pathol.114(5), 786–792 (2000).
  • Grimwade D, Jovanovic JV, Hills RK et al. Prospective minimal residual disease monitoring to predict relapse of acute promyelocytic leukemia and to direct pre-emptive arsenic trioxide therapy. J. Clin. Oncol.27(22), 3650–3658 (2009).
  • Lewis C, Patel V, Abhyankar S et al. Microgranular variant of acute promyelocytic leukemia with normal conventional cytogenetics, negative PML/RARA FISH and positive PML/RARA transcripts by RT-PCR. Cancer Genet.204(9), 522–523 (2011).
  • Reiter A, Lengfelder E, Grimwade D. Pathogenesis, diagnosis and monitoring of residual disease in acute promyelocytic leukaemia. Acta Haematol.112(1–2), 55–67 (2004).
  • Lo-Coco F, Cicconi L. History of acute promyelocytic leukemia: a tale of endless revolution. Mediterr. J. Hematol. Infect. Dis.3(1), e2011067 (2011).

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