Copy Number Amplification of the PIK3CA Gene Is Associated with Poor Prognosis in Non-lymph node metastatic Head and Neck Squamous Cell Carcinoma

BMC Cancer

Volumn 12, Issue , 2012, Pages

  Suda, Toshihito ^a   Hama, Takanori ^a   Kondo, Shu ^b   Yuza, Yuki ^a   Yoshikawa, Mamoru ^a   Urashima, Mitsuyoshi ^a   Kato, Takakuni ^a   Moriyama, Hiroshi ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NATIONAL INSTITUTE OF GENETICS   (Japan)

Author keywords

BRAF; Copy number analysis; KRAS; PIK3CA; Prognostic Factor

Indexed keywords

B RAF KINASE; K RAS PROTEIN;

AGED; ARTICLE; BRAF GENE; CANCER PROGNOSIS; CANCER SURVIVAL; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE FREE SURVIVAL; EXON; FEMALE; GENE; GENE FUNCTION; GENE MUTATION; GENETIC ASSOCIATION; HEAD AND NECK SQUAMOUS CELL CARCINOMA; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; METASTASIS; ONCOGENE; ONCOGENE K RAS; OUTCOME ASSESSMENT; PHOSPHOINOSITIDE 3 KINASE CA GENE; POLYMERASE CHAIN REACTION; QUANTITATIVE ANALYSIS; SEQUENCE ANALYSIS; SURVIVAL RATE;

ADULT; AGED; AGED, 80 AND OVER; CARCINOMA, SQUAMOUS CELL; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; FEMALE; GENE AMPLIFICATION; HEAD AND NECK NEOPLASMS; HUMANS; KAPLAN-MEIER ESTIMATE; LYMPHATIC METASTASIS; MALE; MIDDLE AGED; MULTIVARIATE ANALYSIS; MUTATION; PHOSPHATIDYLINOSITOL 3-KINASES; PROGNOSIS; PROPORTIONAL HAZARDS MODELS; PROSPECTIVE STUDIES; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; RAS PROTEINS; REAL-TIME POLYMERASE CHAIN REACTION; TUMOR MARKERS, BIOLOGICAL;

EID: 84866491238     PISSN: None     EISSN: 14712407     Source Type: Journal    
DOI: 10.1186/1471-2407-12-416     Document Type: Article

References (41)

1. Lockwood WW, Coe BP, Williams AC, MacAulay C, Lam WL. Whole genome tiling path array CGH analysis of segmental copy number alterations in cervical cancer cell lines. Int J Cancer 2007, 120:436-443. 10.1002/ijc.22335, 17096350.
2. Muller S, Su L, Tighiouart M, Saba N, Zhang H, Shin DM, Chen ZG. Distinctive E-cadherin and epidermal growth factor receptor expression in metastatic and nonmetastatic head and neck squamous cell carcinoma predictive and prognostic correlation. Cancer 2008, 113:97-107. 10.1002/cncr.23557, 18473353.
3. Hama T, Yuza Y, Saito Y, O-uchi J, Kondo S, Okabe M, Yamada H, Kato T, Moriyama H, Kurihara S, Urashima M. Prognostic significance of epidermal growth factor receptor phosphorylation and mutation in head and neck squamous cell carcinoma. The Oncologist 2009, 14:900-908. 10.1634/theoncologist.2009-0058, 19726454.
4. Burtness B, Goldwasser MA, Flood W, Mattar B, Forastiere AA. Phase III randomized trial of cisplatin plus placebo compared with cisplatin plus cetuximab in metastatic/recurrent head and neck cancer: an Eastern Cooperative Oncology Group study. J Clin Oncol 2005, 23:8646-8654. 10.1200/JCO.2005.02.4646, 16314626.
5. Sharma SV, Bell DW, Settleman J, Haber DA. Epidermal growth factor receptor mutations in lung cancer. Nat Rev Cancer 2007, 7:169-81. 10.1038/nrc2088, 17318210.
6. Berg M, Danielsen SA, Ahlquist T, Merok MA, Ågesen TH, Vatn MH, Mala T, Sjo OH, Bakka A, Moberg I, Fetveit T, Mathisen T, Husby A, Sandvik O, Nesbakken A, Thiis-Evensen E, Lothe RA. DNA sequence profiles of the colorectal cancer critical gene set KRAS-BRAF-PIK3CA-PTEN-TP53 related to age at disease onset. PLoS One 2010, 5:e13978. 10.1371/journal.pone.0013978, 2980471, 21103049.
7. Karapetis CS, Khambata-Ford S, Jonker DJ, O'Callaghan CJ, Tu D, Tebbutt NC, Simes RJ, Chalchal H, Shapiro JD, Robitaille S, Price TJ, Shepherd L, Au HJ, Langer C, Moore MJ, Zalcberg JR. K-ras mutations and benefit from cetuximab in advanced colorectal cancer. N Engl J Med 2008, 359:1757-1765. 10.1056/NEJMoa0804385, 18946061.
8. Jhawer M, Goel S, Wilson AJ, Montagna C, Ling YH, Byun DS, Nasser S, Arango D, Shin J, Klampfer L, Augenlicht LH, Perez-Soler R, Mariadason JM. PIK3CA mutation/PTEN expression status predicts response of colon cancer cells to the epidermal growth factor receptor inhibitor cetuximab. Cancer Res 2008, 68:1953-1961. 10.1158/0008-5472.CAN-07-5659, 18339877.
9. Kondo N, Tsukuda M, Taguchi T, Nakazaki K, Sakakibara A, Takahashi H, Toth G, Nishimura G. Gene status of head and neck squamous cell carcinoma cell lines and cetuximab-mediated biological activities. Cancer Sci 2011, 102:1717-23. 10.1111/j.1349-7006.2011.01999.x, 21631644.
10. Bruckman KC, Schönleben F, Qiu W, Woo VL, Su GH. Mutational analyses of the BRAF, KRAS, and PIK3CA genes in oral squamous cell carcinoma. Oral Surg Oral Med 2010, 110:632-637.
11. Hirsch FR, Varella-Garcia M, Bunn PA, Di Maria MV, Veve R, Bremmes RM, Barón AE, Zeng C, Franklin WA. Epidermal growth factor receptor in non-small-cell lung carcinomas: correlation between gene copy number and protein expression and impact on prognosis. J Clin Oncol 2003, 21:3798-3807. 10.1200/JCO.2003.11.069, 12953099.
12. Chung CH, Ely K, McGavran L, Varella-Garcia M, Parker J, Parker N, Jarrett C, Carter J, Murphy BA, Netterville J, Burkey BB, Sinard R, Cmelak A, Levy S, Yarbrough WG, Slebos RJ, Hirsch FR. 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. 10.1200/JCO.2006.07.2587, 16943533.
13. Fenic I, Steger K, Gruber C, Arens C, Woenckhaus J. Analysis of PIK3CA and Akt/protein kinase B in head and neck squamous cell carcinoma. Oncol Rep 2007, 18:253-259.
14. O'Sullivan B, Shah J. New TNM staging criteria for head and neck tumors. Semin Surg Oncol 2003, 21:30-42. 10.1002/ssu.10019, 12923914.
15. Soh J, Okumura N, Lockwood WW, Yamamoto H, Shigematsu H, Zhang W, Chari R, Shames DS, Tang X, MacAulay C, Varella-Garcia M, Vooder T, Wistuba II, Lam S, Brekken R, Toyooka S, Minna JD, Lam WL, Gazdar AF. Oncogene mutations, copy number gains and mutant allele specific imbalance (MASI) frequently occur together in tumor cells. PLoS One 2009, 4:e7464. 10.1371/journal.pone.0007464, 2757721, 19826477.
16. Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 2001, 25:402-408. 10.1006/meth.2001.1262, 11846609.
17. Kolasa IK, Alina R, Anna F, Izabela Z-S, Magdalena M, Joanna M, Agnieszka T, Agnieszka Dansonka M, Jolanta K. PIK3CA amplification associates with resistance to chemotherapy in ovarian cancer patients. Cancer Biology & Therapy 2009, 8:1-6. 10.1158/1535-7163.MCT-08-0801, 23175848.
18. Gandhi J, Zhang J, Xie Y, Soh J, Shigematsu H, Zhang W, Yamamoto H, Peyton M, Girard L, Lockwood WW, Lam WL, Varella-Garcia M, Minna JD, Gazdar AF. Alterations in genes of the EGFR signaling pathway and their relationship to EGFR tyrosine kinase inhibitor sensitivity in lung cancer cell lines. PLoS One 2009, 4:e4576. 10.1371/journal.pone.0004576, 2642732, 19238210.
19. Przybytkowski E, Ferrario C, Basik M. The use of ultra-dense array CGH analysis for the discovery of micro-copy number alterations and gene fusions in the cancer genome. BMC Med Genomics 2011, 4:16. 10.1186/1755-8794-4-16, 3041991, 21272361.
20. Ahrens W, Jöckel KH, Patzak W, Elsner G. Alcohol, smoking, and occupational factors in cancer of the larynx: a case-control study. Am J Ind Med 1991, 20:477-93. 10.1002/ajim.4700200404, 1785612.
21. Schönleben F, Qiu W, Bruckman KC, Ciau NT, Li X, Lauerman MH, Frucht H, Chabot JA, Allendorf JD, Remotti HE, Su GH. BRAF and KRAS gene mutations in intraductal papillary mucinous neoplasm /carcinoma (IPMN/IPMC) of the pancreas. Cancer Lett 2007, 249:242-248. 10.1016/j.canlet.2006.09.007, 1865507, 17097223.
22. Bournet B, Souque A, Senesse P, Assenat E, Barthet M, Lesavre N, Aubert A, O'Toole D, Hammel P, Levy P, Ruszniewski P, Bouisson M, Escourrou J, Cordelier P, Buscail L. Endoscopic ultrasound-guided fine-needle aspiration biopsy coupled with KRAS mutation assay to distinguish pancreatic cancer from pseudotumoral chronic pancreatitis. Endoscopy 2009, 41:552-557. 10.1055/s-0029-1214717, 19533561.
23. Vaughn CP, Zobell SD, Furtado LV, Baker CL, Samowitz WS. Frequency of KRAS, BRAF, and NRAS mutations in colorectal cancer. Genes Chromosomes Cancer 2011, 50:307-312. 10.1002/gcc.20854, 21305640.
24. Liu X, Jakubowski M, Hunt JL. KRAS gene mutation in colorectal cancer is correlated with increased proliferation and spontaneous apoptosis. Am J Clin Pathol 2011, 135:245-252. 10.1309/AJCP7FO2VAXIVSTP, 21228365.
25. Cortot AB, Italiano A, Burel-Vandenbos F, Martel-Planche G, Hainaut P. KRAS mutation status in primary nonsmall cell lung cancer and matched metastases. Cancer 2010, 116:2682-2687. 10.1002/cncr.25014, 20336783.
26. Dong J, Phelps RG, Qiao R, Yao S, Benard O, Ronai Z, Aaronson SA. BRAF oncogenic mutations correlate with progression rather than initiation of human melanoma. Cancer Res 2003, 63:3883-3885.
27. Kumar R, Angelini S, Czene K, Sauroja I, Hahka-Kemppinen M, Pyrhönen S, Hemminki K. BRAF mutations in metastatic melanoma: a possible association with clinical outcome. Clin Cancer Res 2003, 9:3362-3368.
28. Kimura ET, Nikiforova MN, Zhu Z, Knauf JA, Nikiforov YE, Fagin JA. High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma. Cancer Res 2003, 63:1454-1457.
29. Yuen ST, Davies H, Chan TL, Ho JW, Bignell GR, Cox C, Stephens P, Edkins S, Tsui WW, Chan AS, Futreal PA, Stratton MR, Wooster R, Leung SY. Similarity of the phenotypic patterns associated with BRAF and KRAS mutations in colorectal neoplasia. Cancer Res 2002, 62:6451-6455.
30. Samuels Y, Wang Z, Bardelli A, Silliman N, Ptak J, Szabo S, Yan H, Gazdar A, Powell SM, Riggins GJ, Willson JK, Markowitz S, Kinzler KW, Vogelstein B, Velculescu VE. High frequency of mutations of the PIK3CA gene in human cancers. Science 2004, 304:554. 10.1126/science.1096502, 15016963.
31. Kang S, Seo SS, Chang HJ, Yoo CW, Park SY, Dong SM. Mutual exclusiveness between PIK3CA and KRAS mutations in endometrial carcinoma. Int J Gynecol Cancer 2008, 18:1339-1343. 10.1111/j.1525-1438.2007.01172.x, 18221484.
32. Levine DA, Bogomolniy F, Yee CJ, Lash A, Barakat RR, Borgen PI, Boyd J. Frequent mutation of the PIK3CA gene in ovarian and breast cancers. Clin Cancer Res 2005, 11:2875-2878. 10.1158/1078-0432.CCR-04-2142, 15837735.
33. Van Damme N, Deron P, Van Roy N, Demetter P, Bols A, Van Dorpe J, Baert F, Van Laethem JL, Speleman F, Pauwels P, Peeters M. Epidermal growth factor receptor and K-RAS status in two cohorts of squamous cell carcinomas. BMC Cancer 2010, 10:189. 10.1186/1471-2407-10-189, 2887399, 20459770.
34. Lièvre A, Bachet JB, Boige V, Cayre A, Le Corre D, Buc E, Ychou M, Bouché O, Landi B, Louvet C, André T, Bibeau F, Diebold MD, Rougier P, Ducreux M, Tomasic G, Emile JF, Penault-Llorca F, Laurent-Puig P. KRAS mutations as an independent prognostic factor in patients with advanced colorectal cancer treated with cetuximab. J Clin Oncol 2008, 26:374-379. 10.1200/JCO.2007.12.5906, 18202412.
35. Lee JH, Lee ES, Kim YS. Clinicopathologic significance of BRAF V600E mutation in papillary carcinomas of the thyroid: a meta-analysis. Cancer 2007, 110:38-46. 10.1002/cncr.22754, 17520704.
36. Kataoka Y, Mukohara T, Shimada H, Saijo N, Hirai M, Minami H. Association between gain-of-function mutations in PIK3CA and resistance to HER2-targeted agents in HER2-amplified breast cancer cell lines. Ann Oncol 2010, 21:255-262. 10.1093/annonc/mdp304, 19633047.
37. Qiu W, Schönleben F, Li X, Ho DJ, Close LG, Manolidis S, Bennett BP, Su GH. PIK3CA mutations in head and neck squamous cell carcinoma. Clin Cancer Res 2006, 12:1441-1446. 10.1158/1078-0432.CCR-05-2173, 1780023, 16533766.
38. Murugan AK, Hong NT, Fukui Y, Munirajan AK, Tsuchida N. Oncogenic mutations of the PIK3CA gene in head and neck squamous cell carcinomas. Int J Oncol 2008, 32:101-111.
39. Janku F, Tsimberidou AM, Garrido-Laguna I, Wang X, Luthra R, Hong DS, Naing A, Falchook GS, Moroney JW, Piha-Paul SA, Wheler JJ, Moulder SL, Fu S, Kurzrock R. PIK3CA mutations in patients with advanced cancers treated with PI3K/AKT/mTOR axis inhibitors. Mol Cancer Ther 2011, 10:558-565. 10.1158/1535-7163.MCT-10-0994, 3072168, 21216929.
40. Yamamoto H, Shigematsu H, Nomura M, Lockwood WW, Sato M, Okumura N, Soh J, Suzuki M, Wistuba II, Fong KM, Lee H, Toyooka S, Date H, Lam WL, Minna JD, Gazdar AF. PIK3CA mutations and copy number gains in human lung cancers. Cancer Res 2008, 68:6913-6921. 10.1158/0008-5472.CAN-07-5084, 2874836, 18757405.
41. Fendri A, Khabir A, Mnejja W, Sellami-Boudawara T, Daoud J, Frikha M, Ghorbel A, Gargouri A, Mokdad-Gargouri R. PIK3CA amplification is predictive of poor prognosis in Tunisian patients with nasopharyngeal carcinoma. Cancer Sci 2009, 100:2034-2039. 10.1111/j.1349-7006.2009.01292.x, 19735264.