High-Throughput Mutation Profiling of Primary and Metastatic Endometrial Cancers Identifies KRAS, FGFR2 and PIK3CA to Be Frequently Mutated

PLoS ONE

Volumn 7, Issue 12, 2012, Pages

  Krakstad, Camilla ^a,b   Birkeland, Even ^a,b   Seidel, Danila ^c,d   Kusonmano, Kanthida ^a,b,e   Petersen, Kjell ^e   Mjøs, Siv ^a,b   Hoivik, Erling A ^a,b   Wik, Elisabeth ^a,b   Halle, Mari Kyllesø ^a,b   Øyan, Anne M ^a,b   Kalland, Karl Henning ^a,b   Werner, Henrica Maria Johanna ^a,b   Trovik, Jone ^a,b   Salvesen, Helga ^a,b  

^a UNIVERSITY OF BERGEN   (Norway)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY OF COLOGNE   (Germany)

^d MAX PLANCK INSTITUTE FOR NEUROLOGICAL RESEARCH   (Germany)

^e Uni Research AS   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2; K RAS PROTEIN;

AGED; ARTICLE; CANCER CELL CULTURE; CONTROLLED STUDY; DNA SEQUENCE; ENDOMETRIUM CARCINOMA; EXON; FEMALE; FGFR2 GENE; GENE EXPRESSION; GENE FREQUENCY; GENE IDENTIFICATION; GENE MAPPING; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MASS SPECTROMETRY; MUTATIONAL ANALYSIS; ONCOGENE; ONCOGENE K RAS; PIK3CA GENE; POINT MUTATION; SOMATIC MUTATION; VALIDATION PROCESS;

AGED; CARCINOMA; CELL LINE, TUMOR; CLUSTER ANALYSIS; DNA MUTATIONAL ANALYSIS; ENDOMETRIAL NEOPLASMS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION, MISSENSE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHOSPHATIDYLINOSITOL 3-KINASES; PROTO-ONCOGENE PROTEINS; RAS PROTEINS; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; TRANSCRIPTOME;

EID: 84871656055     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0052795     Document Type: Article

References (35)

1. Salvesen HB, Haldorsen IS, Trovik J, (2012) Markers for individualised therapy in endometrial carcinoma. Lancet Oncol 13: e353-361.
2. Bokhman JV, (1983) Two pathogenetic types of endometrial carcinoma. Gynecol Oncol 15: 10-17.
3. Fujimoto T, Nanjyo H, Fukuda J, Nakamura A, Mizunuma H, et al. (2009) Endometrioid uterine cancer: histopathological risk factors of local and distant recurrence. Gynecol Oncol 112: 342-347.
4. Dedes KJ, Wetterskog D, Ashworth A, Kaye SB, Reis-Filho JS, (2011) Emerging therapeutic targets in endometrial cancer. Nat Rev Clin Oncol 8: 261-271.
5. Dutt A, Salvesen HB, Chen TH, Ramos AH, Onofrio RC, et al. (2008) Drug-sensitive FGFR2 mutations in endometrial carcinoma. Proc Natl Acad Sci U S A 105: 8713-8717.
6. MacConaill LE, Campbell CD, Kehoe SM, Bass AJ, Hatton C, et al. (2009) Profiling critical cancer gene mutations in clinical tumor samples. PLoS One 4: e7887.
7. Thomas RK, Baker AC, Debiasi RM, Winckler W, Laframboise T, et al. (2007) High-throughput oncogene mutation profiling in human cancer. Nat Genet 39: 347-351.
8. Trovik J, Wik E, Stefansson IM, Marcickiewicz J, Tingulstad S, et al. (2011) Stathmin overexpression identifies high-risk patients and lymph node metastasis in endometrial cancer. Clin Cancer Res 17: 3368-3377.
9. Ding L, Getz G, Wheeler DA, Mardis ER, McLellan MD, et al. (2008) Somatic mutations affect key pathways in lung adenocarcinoma. Nature 455: 1069-1075.
10. Greenman C, Stephens P, Smith R, Dalgliesh GL, Hunter C, et al. (2007) Patterns of somatic mutation in human cancer genomes. Nature 446: 153-158.
11. Hammerman PS, Sos ML, Ramos AH, Xu C, Dutt A, et al. (2011) Mutations in the DDR2 kinase gene identify a novel therapeutic target in squamous cell lung cancer. Cancer Discov 1: 78-89.
12. Weir BA, Woo MS, Getz G, Perner S, Ding L, et al. (2007) Characterizing the cancer genome in lung adenocarcinoma. Nature 450: 893-898.
13. Wood LD, Parsons DW, Jones S, Lin J, Sjoblom T, et al. (2007) The genomic landscapes of human breast and colorectal cancers. Science 318: 1108-1113.
14. Birkeland E, Wik E, Mjos S, Hoivik EA, Trovik J, et al. (2012) KRAS gene amplification and overexpression but not mutation associates with aggressive and metastatic endometrial cancer. Br J Cancer.
15. Salvesen HB, Carter SL, Mannelqvist M, Dutt A, Getz G, et al. (2009) Integrated genomic profiling of endometrial carcinoma associates aggressive tumors with indicators of PI3 kinase activation. Proc Natl Acad Sci U S A 106: 4834-4839.
16. Yap TA, Workman P, (2012) Exploiting the cancer genome: strategies for the discovery and clinical development of targeted molecular therapeutics. Annu Rev Pharmacol Toxicol 52: 549-573.
17. Chapman PB, Hauschild A, Robert C, Haanen JB, Ascierto P, et al. (2011) Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med 364: 2507-2516.
18. Corcoran RB, Ebi H, Turke AB, Coffee EM, Nishino M, et al. (2012) EGFR-mediated re-activation of MAPK signaling contributes to insensitivity of BRAF mutant colorectal cancers to RAF inhibition with vemurafenib. Cancer Discov 2: 227-235.
19. Prahallad A, Sun C, Huang S, Di Nicolantonio F, Salazar R, et al. (2012) Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR. Nature 483: 100-103.
20. Kiessling MK, Oberholzer PA, Mondal C, Karpova MB, Zipser MC, et al. (2011) High-throughput mutation profiling of CTCL samples reveals KRAS and NRAS mutations sensitizing tumors toward inhibition of the RAS/RAF/MEK signaling cascade. Blood 117: 2433-2440.
21. Lee J, van Hummelen P, Go C, Palescandolo E, Jang J, et al. (2012) High-throughput mutation profiling identifies frequent somatic mutations in advanced gastric adenocarcinoma. PLoS One 7: e38892.
22. Maeng CH, Lee J, van Hummelen P, Park SH, Palescandolo E, et al. (2012) High-Throughput Genotyping in Metastatic Esophageal Squamous Cell Carcinoma Identifies Phosphoinositide-3-Kinase and BRAF Mutations. PLoS One 7: e41655.
23. Byron SA, Gartside M, Powell MA, Wellens CL, Gao F, et al. (2012) FGFR2 point mutations in 466 endometrioid endometrial tumors: relationship with MSI, KRAS, PIK3CA, CTNNB1 mutations and clinicopathological features. PLoS One 7: e30801.
24. Peterson LM, Kipp BR, Halling KC, Kerr SE, Smith DI, et al. (2012) Molecular characterization of endometrial cancer: a correlative study assessing microsatellite instability, MLH1 hypermethylation, DNA mismatch repair protein expression, and PTEN, PIK3CA, KRAS, and BRAF mutation analysis. Int J Gynecol Pathol 31: 195-205.
25. Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, et al. (1995) Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 9: 165-172.
26. Pollock PM, Gartside MG, Dejeza LC, Powell MA, Mallon MA, et al. (2007) Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. Oncogene 26: 7158-7162.
27. Byron SA, Gartside MG, Wellens CL, Mallon MA, Keenan JB, et al. (2008) Inhibition of activated fibroblast growth factor receptor 2 in endometrial cancer cells induces cell death despite PTEN abrogation. Cancer Res 68: 6902-6907.
28. Bamford S, Dawson E, Forbes S, Clements J, Pettett R, et al. (2004) The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website. Br J Cancer 91: 355-358.
29. Janku F, Wheler JJ, Westin SN, Moulder SL, Naing A, et al. (2012) PI3K/AKT/mTOR inhibitors in patients with breast and gynecologic malignancies harboring PIK3CA mutations. J Clin Oncol 30: 777-782.
30. Salvesen HB, Kumar R, Stefansson I, Angelini S, MacDonald N, et al. (2005) Low frequency of BRAF and CDKN2A mutations in endometrial cancer. Int J Cancer 115: 930-934.
31. Semczuk A, Berbec H, Kostuch M, Cybulski M, Wojcierowski J, et al. (1998) K-ras gene point mutations in human endometrial carcinomas: correlation with clinicopathological features and patients' outcome. J Cancer Res Clin Oncol 124: 695-700.
32. Mutter GL, Wada H, Faquin WC, Enomoto T, (1999) K-ras mutations appear in the premalignant phase of both microsatellite stable and unstable endometrial carcinogenesis. Mol Pathol 52: 257-262.
33. Cepero V, Sierra JR, Corso S, Ghiso E, Casorzo L, et al. (2010) MET and KRAS gene amplification mediates acquired resistance to MET tyrosine kinase inhibitors. Cancer Res 70: 7580-7590.
34. Djordjevic B, Hennessy BT, Li J, Barkoh BA, Luthra R, et al. (2012) Clinical assessment of PTEN loss in endometrial carcinoma: immunohistochemistry outperforms gene sequencing. Mod Pathol 25: 699-708.
35. Wild PJ, Ikenberg K, Fuchs TJ, Rechsteiner M, Georgiev S, et al. (2012) p53 suppresses type II endometrial carcinomas in mice and governs endometrial tumour aggressiveness in humans. EMBO Mol Med 4: 808-824.