Integrating genomics in head and neck cancer treatment: Promises and pitfalls

Critical Reviews in Oncology/Hematology

Volumn 95, Issue 3, 2015, Pages 397-406

  Thariat, Juliette ^a   Vignot, Stéphane ^b   Lapierre, Ariane ^c   Falk, Alexander T ^a   Guigay, Joel ^a   Van Obberghen Schilling, Ellen ^d   Milano, Gerard ^a  

^a CENTRE ANTOINE LACASSAGNE   (France)

^b Department of Oncology and Hematology Hôpitaux de Chartres ^*  (France)

^c CENTRE HOSPITALIER LYON SUD   (France)

^d UNIVERSITÉ CÔTE D'AZUR   (France)

Author keywords

Druggability; Gene; Head and neck cancer; Human papilloma virus; Mutation; Sequencing

Indexed keywords

8 [4 (1 AMINOCYCLOBUTYL)PHENYL] 9 PHENYL 1,2,4 TRIAZOLO[3,4 F][1,6]NAPHTHYRIDIN 3(2H) ONE; CETUXIMAB; CYCLIN D1; EPIDERMAL GROWTH FACTOR RECEPTOR; LAPATINIB; MAMMALIAN TARGET OF RAPAMYCIN INHIBITOR; NOTCH RECEPTOR; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN KINASE B INHIBITOR; PROTEIN P53; RAPAMYCIN; RAS PROTEIN; SONOLISIB;

CANCER GENETICS; CANCER PROGNOSIS; CHEMORADIOTHERAPY; DRUG EFFICACY; EPIGENETICS; GENE AMPLIFICATION; GENE MUTATION; GENOMIC INSTABILITY; HEAD AND NECK SQUAMOUS CELL CARCINOMA; HIGH THROUGHPUT SEQUENCING; HUMAN; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; PERSONALIZED MEDICINE; PHASE 1 CLINICAL TRIAL (TOPIC); PHASE 2 CLINICAL TRIAL (TOPIC); PROTEIN EXPRESSION; REVIEW; SIGNAL TRANSDUCTION; SOMATIC MUTATION; SYSTEMATIC REVIEW; TREATMENT RESPONSE; TUMOR SUPPRESSOR GENE; TUMOR XENOGRAFT; VIRUS CARCINOGENESIS; WART VIRUS; CARCINOMA, SQUAMOUS CELL; GENETICS; GENOMICS; HEAD AND NECK NEOPLASMS; ISOLATION AND PURIFICATION; METABOLISM; MUTATION; PAPILLOMAVIRIDAE; PHYSIOLOGY; VIROLOGY;

CARCINOMA, SQUAMOUS CELL; GENES, P53; GENOMICS; HEAD AND NECK NEOPLASMS; HUMANS; MUTATION; PAPILLOMAVIRIDAE; PHOSPHATIDYLINOSITOL 3-KINASES; RECEPTORS, NOTCH; SIGNAL TRANSDUCTION;

EID: 84983126638     PISSN: 10408428     EISSN: 18790461     Source Type: Journal    
DOI: 10.1016/j.critrevonc.2015.03.005     Document Type: Review

References (69)

1. Rothenberg S.M., Ellisen L.W. The molecular pathogenesis of head and neck squamous cell carcinoma. J Clin Invest 2012, 122:1951-1957.
2. Lacko M., et al. Genetic susceptibility to head and neck squamous cell carcinoma. Int J Radiat Oncol Biol Phys 2014, 89:38-48.
3. Cancer Genome Atlas Network Comprehensive genomic characterization of head and neck squamous cell carcinomas. Nature 2015, 517(7536):576-582. 10.1038/nature14129.
4. Chung C.H., et al. Increased epidermal growth factor receptor gene copy number is associated with poor prognosis in head and neck squamous cell carcinomas. J Clin Oncol 2006, 24:4170-4176.
5. Sok J.C., et al. Mutant epidermal growth factor receptor (EGFRvIII) contributes to head and neck cancer growth and resistance to EGFR targeting. Clin Cancer Res 2006, 12:5064-5073.
6. Tinhofer I., et al. Expression of amphiregulin and EGFRvIII affect outcome of patients with squamous cell carcinoma of the head and neck receiving cetuximab-docetaxel treatment. Clin Cancer Res 2011, 17:5197-5204.
7. Khattri A., et al. Rare occurrence of EGFRvIII deletion in head and neck squamous cell carcinoma. Oral Oncol 2014, 10.1016/j.oraloncology.2014.08.014.
8. Prior I.A., Lewis P.D., Mattos C. A comprehensive survey of Ras mutations in cancer. Cancer Res 2012, 72:2457-2467.
9. Dassonville O., et al. Expression of epidermal growth factor receptor and survival in upper aerodigestive tract cancer. J Clin Oncol 1993, 11:1873-1878.
10. Lemmon M.A., Schlessinger J. Cell signaling by receptor tyrosine kinases. Cell 2010, 141:1117-1134.
11. Kumar R. ErbB-dependent signaling as a determinant of trastuzumab resistance. Clin Cancer Res 2007, 13:4657-4659.
12. Erjala K., et al. Signaling via ErbB2 and ErbB3 associates with resistance and epidermal growth factor receptor (EGFR) amplification with sensitivity to EGFR inhibitor gefitinib in head and neck squamous cell carcinoma cells. Clin Cancer Res 2006, 12:4103-4111.
13. Engelman J.A., et al. PF00299804, an irreversible pan-ERBB inhibitor, is effective in lung cancer models with EGFR and ERBB2 mutations that are resistant to gefitinib. Cancer Res 2007, 67:11924-11932.
14. Arteaga C.L. HER3 and mutant EGFR meet MET. Nat Med 2007, 13:675-677.
15. Stabile L.P., et al. c-Src Activation Mediates Erlotinib Resistance in Head and Neck Cancer by Stimulating c-Met. Clin Cancer Res 2013, 19:380-392.
16. Chaturvedi A.K., et al. Human papillomavirus and rising oropharyngeal cancer incidence in the United States. J Clin Oncol 2011, 29:4294-4301.
17. Ang K.K., et al. Human papillomavirus and survival of patients with oropharyngeal cancer. N Engl J Med 2010, 363:24-35.
18. Alexandrov L.B., et al. Signatures of mutational processes in human cancer. Nature 2013, 500:415-421.
19. Agrawal N., et al. Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1. Science 2011, 333:1154-1157.
20. Stransky N., et al. The mutational landscape of head and neck squamous cell carcinoma. Science 2011, 333:1157-1160.
21. Pickering C.R., et al. Integrative genomic characterization of oral squamous cell carcinoma identifies frequent somatic drivers. Cancer Discov 2013, 3:770-781.
22. Lui V.W.Y., et al. Frequent mutation of the PI3K pathway in head and neck cancer defines predictive biomarkers. Cancer Discov 2013, 3:761-769.
23. Westra W.H., et al. Inverse relationship between human papillomavirus-16 infection and disruptive p53 gene mutations in squamous cell carcinoma of the head and neck. Clin Cancer Res 2008, 14:366-369.
24. Henderson S., Chakravarthy A., Su X., Boshoff C., Fenton T.R. APOBEC-mediated cytosine deamination links PIK3CA helical domain mutations to human papillomavirus-driven tumor development. Cell Rep 2014, 7:1833-1841.
25. Fakhry C., et al. Improved survival of patients with human papillomavirus-positive head and neck squamous cell carcinoma in a prospective clinical trial. J Natl Cancer Inst 2008, 100:261-269.
26. O'Sullivan B., et al. Deintensification candidate subgroups in human papillomavirus-related oropharyngeal cancer according to minimal risk of distant metastasis. J Clin Oncol 2013, 31:543-550.
27. Klussmann J.P., et al. Prevalence, distribution, and viral load of human papillomavirus 16 DNA in tonsillar carcinomas. Cancer 2001, 92:2875-2884.
28. Reed A.L., et al. High frequency of p16 (CDKN2/MTS-1/INK4A) inactivation in head and neck squamous cell carcinoma. Cancer Res 1996, 56:3630-3633.
29. Singh B., et al. Amplification of the 3q26.3 locus is associated with progression to invasive cancer and is a negative prognostic factor in head and neck squamous cell carcinomas. Am J Pathol 2002, 161:365-371.
30. Lui V.W.Y., et al. Frequent mutation of receptor protein tyrosine phosphatases provides a mechanism for STAT3 hyperactivation in head and neck cancer. Proc Natl Acad Sci USA 2014, 111:1114-1119.
31. Li H., et al. Genomic analysis of head and neck squamous cell carcinoma cell lines and human tumors: a rational approach to preclinical model selection. Mol Cancer Res 2014, 12:571-582.
32. Lechner M., et al. Targeted next-generation sequencing of head and neck squamous cell carcinoma identifies novel genetic alterations in HPV+ and HPV- tumors. Genome Med 2013, 5:49.
33. Mirghani H., et al. Oropharyngeal cancers: relationship between epidermal growth factor receptor alterations and human papillomavirus status. Eur J Cancer 2014, 10.1016/j.ejca.2013.12.018.
34. Rogers S.J., et al. The phosphoinositide 3-kinase signalling pathway as a therapeutic target in squamous cell carcinoma of the head and neck. Expert Opin Ther Targets 2005, 9:769-790.
35. Murugan A.K., Hong N.T., Fukui Y., Munirajan A.K., Tsuchida N. Oncogenic mutations of the PIK3CA gene in head and neck squamous cell carcinomas. Int J Oncol 2008, 32:101-111.
36. Paterson I.C., Eveson J.W., Prime S.S. Molecular changes in oral cancer may reflect aetiology and ethnic origin. Eur J Cancer B: Oral Oncol 1996, 32B:150-153.
37. Prigge E.-S., et al. No evidence of oncogenic KRAS mutations in squamous cell carcinomas of the anogenital tract and head and neck region independent of human papillomavirus and p16(INK4a) status. Hum Pathol 2014, 10.1016/j.humpath.2014.08.001.
38. Tan D.S., et al. Tongue carcinoma infrequently harbor common actionable genetic alterations. BMC Cancer 2014, 14:679.
39. Baldus C.D., et al. Prognostic implications of NOTCH1 and FBXW7 mutations in adult acute T-lymphoblastic leukemia. Haematologica 2009, 94:1383-1390.
40. Sun W., et al. Activation of the NOTCH Pathway in Head and Neck Cancer. Cancer Res 2014, 10.1158/0008-5472.CAN-13-1259.
41. Sakamoto K., et al. Reduction of NOTCH1 expression pertains to maturation abnormalities of keratinocytes in squamous neoplasms. Lab Invest 2012, 92:688-702.
42. Leemans C.R., Braakhuis B.J.M., Brakenhoff R.H. The molecular biology of head and neck cancer. Nat Rev Cancer 2011, 11:9-22.
43. Li R., et al. Clinical, genomic, and metagenomic characterization of oral tongue squamous cell carcinoma in patients who do not smoke. Head Neck 2014, 10.1002/hed.23807.
44. Pickering C.R., et al. Squamous cell carcinoma of the oral tongue in young non-smokers is genomically similar to tumors in older smokers. Clin Cancer Res 2014, 20:3842-3848.
45. Song X., et al. Common and complex notch1 mutations in Chinese oral squamous cell carcinoma. Clin Cancer Res 2014, 20:701-710.
46. India Project Team of the International Cancer Genome Consortium Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups. Nat Commun 2013, 4:2873. 10.1038/ncomms3873.
47. Prahallad A., et al. Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR. Nature 2012, 483:100-103.
48. Seiwert T.Y., et al. Integrative and comparative genomic analysis of HPV-positive and HPV-negative head and neck squamous cell carcinomas. Clin Cancer Res 2014, 10.1158/1078-0432.CCR-13-3310.
49. Mirghani H., et al. Oropharyngeal cancers: relationship between epidermal growth factor receptor alterations and human papillomavirus status. Eur J Cancer 2014, 50:1100-1111.
50. Liu X., et al. Association between smoking and p53 mutation in lung cancer: a meta-analysis. Clin Oncol (R Coll Radiol) 2014, 26:18-24.
51. Maruyama H., et al. Human papillomavirus and p53 mutations in head and neck squamous cell carcinoma among Japanese population. Cancer Sci 2014, 105:409-417.
52. Printz C. Specific genetic alterations associated with head and neck cancer survival disparities. Cancer 2014, 120:931.
53. Szaumkessel M., et al. Pyrosequencing-based DNA methylation profiling of Fanconi anemia/BRCA pathway genes in laryngeal squamous cell carcinoma. Int J Oncol 2011, 39:505-514.
54. Marsit C.J., et al. Inactivation of the Fanconi anemia/BRCA pathway in lung and oral cancers: implications for treatment and survival. Oncogene 2004, 23:1000-1004.
55. Van Zeeburg H.J.T., et al. Clinical and molecular characteristics of squamous cell carcinomas from Fanconi anemia patients. J Natl Cancer Inst 2008, 100:1649-1653.
56. Alter B.P., et al. Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: a search for human papillomavirus. Int J Cancer 2013, 133:1513-1515.
57. Zhang P., Mirani N., Baisre A., Fernandes H. Molecular heterogeneity of head and neck squamous cell carcinoma defined by next-generation sequencing. Am J Pathol 2014, 184:1323-1330.
58. Guerrero-Preston R., et al. Key tumor suppressor genes inactivated by 'greater promoter' methylation and somatic mutations in head and neck cancer. Epigenetics 2014, 9:1031-1046.
59. Sobus S.L., Warren G.W. The biologic effects of cigarette smoke on cancer cells. Cancer 2014, 10.1002/cncr.28904.
60. De Cecco L., Bossi P., Locati L., Canevari S., Licitra L. Comprehensive gene expression meta-analysis of head and neck squamous cell carcinoma microarray data defines a robust survival predictor. Ann Oncol 2014, 25:1628-1635.
61. Hanahan D., Weinberg R.A. Hallmarks of cancer: the next generation. Cell 2011, 144:646-674.
62. Gerlinger M., et al. Intratumor heterogeneity and branched evolution revealed by multiregion sequencing. N Engl J Med 2012, 366:883-892.
63. Vakiani E., et al. Comparative genomic analysis of primary versus metastatic colorectal carcinomas. J Clin Oncol 2012, 30:2956-2962.
64. Vignot S., et al. Next-generation sequencing reveals high concordance of recurrent somatic alterations between primary tumor and metastases from patients with non-small-cell lung cancer. J Clin Oncol 2013, 31:2167-2172.
65. Lacroix L., Boichard A., André F., Soria J.-C. Genomes in the clinic: the Gustave Roussy Cancer Center experience. Curr Opin Genet Dev 2014, 24:99-106.
66. Gullapalli R.R., et al. Clinical integration of next-generation sequencing technology. Clin Lab Med 2012, 32:585-599.
67. Liu S.V., Miller V.A., Lobbezoo M.W., Giaccone G. Genomics-based early-phase clinical trials in oncology: recommendations from the task force on Methodology for the Development of Innovative Cancer Therapies. Eur J Cancer 2014, 50:2747-2751.
68. Sepiashvili L., et al. Novel insights into head and neck cancer using next-generation 'Omic' technologies. Cancer Res 2015, 75:480-486.
69. Bourhis J., et al. Concomitant chemoradiotherapy versus acceleration of radiotherapy with or without concomitant chemotherapy in locally advanced head and neck carcinoma (GORTEC 99-02): an open-label phase 3 randomised trial. Lancet Oncol 2012, 13:145-153.