Fgfr2 point mutations in 466 endometrioid endometrial tumors: Relationship with msi, kras, pik3ca, ctnnb1 mutations and clinicopathological features

PLoS ONE

Volumn 7, Issue 2, 2012, Pages

  Byron, Sara A ^a   Gartside, Michael ^a   Powell, Matthew A ^b   Wellens, Candice L ^a   Gao, Feng ^b   Mutch, David G ^b   Goodfellow, Paul J ^b   Pollock, Pamela M ^a,c  

^a TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c QUEENSLAND UNIVERSITY OF TECHNOLOGY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CANCER STAGING; CONTROLLED STUDY; CTNNB1 GENE; DISEASE FREE SURVIVAL; EARLY CANCER; ENDOMETRIOID ENDOMETRIAL TUMOR; ENDOMETRIUM CANCER; FEMALE; FIBROBLAST GROWTH FACTOR RECEPTOR 2 GENE; HUMAN; HUMAN TISSUE; KAPLAN MEIER METHOD; MAJOR CLINICAL STUDY; MICROSATELLITE INSTABILITY; MUTATIONAL ANALYSIS; ONCOGENE; ONCOGENE K RAS; OVERALL SURVIVAL; PIK3CA GENE; POINT MUTATION; PREVALENCE; PROGNOSIS; PROPORTIONAL HAZARDS MODEL; AGED; ENDOMETRIUM TUMOR; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; ONCOGENE RAS; TREATMENT OUTCOME;

BETA CATENIN; CTNNB1 PROTEIN, HUMAN; FGFR2 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR RECEPTOR 2; PHOSPHATIDYLINOSITOL 3 KINASE; PIK3CA PROTEIN, HUMAN; RAS PROTEIN;

AGED; BETA CATENIN; DISEASE-FREE SURVIVAL; ENDOMETRIAL NEOPLASMS; FEMALE; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION, NEOPLASTIC; GENES, RAS; HUMANS; MICROSATELLITE INSTABILITY; MIDDLE AGED; MUTATION; PHOSPHATIDYLINOSITOL 3-KINASES; POINT MUTATION; PROPORTIONAL HAZARDS MODELS; RAS PROTEINS; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; TREATMENT OUTCOME;

EID: 84857549430     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0030801     Document Type: Article

References (38)

1. Jemal A, Siegel R, Xu J, Ward E, (2010) Cancer statistics, 2010. CA: a cancer journal for clinicians 60: 277-300.
2. Creutzberg CL, van Putten WL, Koper PC, Lybeert ML, Jobsen JJ, et al. (2000) Surgery and postoperative radiotherapy versus surgery alone for patients with stage-1 endometrial carcinoma: multicentre randomised trial. PORTEC Study Group. Post Operative Radiation Therapy in Endometrial Carcinoma. Lancet 355: 1404-1411.
3. Keys HM, Roberts JA, Brunetto VL, Zaino RJ, Spirtos NM, et al. (2004) A phase III trial of surgery with or without adjunctive external pelvic radiation therapy in intermediate risk endometrial adenocarcinoma: a Gynecologic Oncology Group study. Gynecologic oncology 92: 744-751.
4. Mutch DG, (2009) The new FIGO staging system for cancers of the vulva, cervix, endometrium and sarcomas. Gynecologic oncology 115: 325-328.
5. Cragun JM, Havrilesky LJ, Calingaert B, Synan I, Secord AA, et al. (2005) Retrospective analysis of selective lymphadenectomy in apparent early-stage endometrial cancer. Journal of clinical oncology: official journal of the American Society of Clinical Oncology 23: 3668-3675.
6. Barton DP, Naik R, Herod J, (2009) Efficacy of systematic pelvic lymphadenectomy in endometrial cancer (MRC ASTEC Trial): a randomized study. International journal of gynecological cancer: official journal of the International Gynecological Cancer Society 19: 1465.
7. Benedetti Panici P, Basile S, Maneschi F, Alberto Lissoni A, Signorelli M, et al. (2008) Systematic pelvic lymphadenectomy vs. no lymphadenectomy in early-stage endometrial carcinoma: randomized clinical trial. Journal of the National Cancer Institute 100: 1707-1716.
8. Heiskanen M, Kononen J, Barlund M, Torhorst J, Sauter G, et al. (2001) CGH, cDNA and tissue microarray analyses implicate FGFR2 amplification in a small subset of breast tumors. Anal Cell Pathol 22: 229-234.
9. Turner N, Lambros MB, Horlings HM, Pearson A, Sharpe R, et al. (2010) Integrative molecular profiling of triple negative breast cancers identifies amplicon drivers and potential therapeutic targets. Oncogene 29: 2013-2023.
10. Shin EY, Lee BH, Yang JH, Shin KS, Lee GK, et al. (2000) Up-regulation and co-expression of fibroblast growth factor receptors in human gastric cancer. J Cancer Res Clin Oncol 126: 519-528.
11. 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.
12. Davies H, Hunter C, Smith R, Stephens P, Greenman C, et al. (2005) Somatic mutations of the protein kinase gene family in human lung cancer. Cancer Res 65: 7591-7595.
13. Jang JH, Shin KH, Park JG, (2001) Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers. Cancer Res 61: 3541-3543.
14. 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.
15. Cheung LWT, Hennessy BT, Li J, Yu S, Myers AP, et al. (2011) High frequency of PIK3R1 and PIK3R2 mutations in endometrial cancer elucidates a novel mechanism for regulation of PTEN protein stability. Cancer Discovery 1.
16. Miller SA, Dykes DD, Polesky HF, (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic acids research 16: 1215.
17. Lahiri DK, Nurnberger JI Jr, (1991) A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic acids research 19: 5444.
18. 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.
19. 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 research 68: 6902-6907.
20. Zighelboim I, Goodfellow PJ, Gao F, Gibb RK, Powell MA, et al. (2007) Microsatellite instability and epigenetic inactivation of MLH1 and outcome of patients with endometrial carcinomas of the endometrioid type. Journal of clinical oncology: official journal of the American Society of Clinical Oncology 25: 2042-2048.
21. Grambsch PM, Therneau TM, (1994) Proportional hazards tests and diagnostics based on weighted residuals. Biometrika 81: 515-526.
22. Fine JP, Gray RJ, (1999) A proportional hazards model for the subdistribution of a competing risk. Journal of the American Statistical Association 94: 496-509.
23. Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW, (1995) Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nature genetics 11: 462-464.
24. van Rhijn BW, van Tilborg AA, Lurkin I, Bonaventure J, de Vries A, et al. (2002) Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders. European journal of human genetics: EJHG 10: 819-824.
25. He L, Hristova K, (2008) Pathogenic activation of receptor tyrosine kinases in mammalian membranes. Journal of molecular biology 384: 1130-1142.
26. Monsonego-Ornan E, Adar R, Feferman T, Segev O, Yayon A, (2000) The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation. Molecular and cellular biology 20: 516-522.
27. Kang S, Seo SS, Chang HJ, Yoo CW, Park SY, et al. (2008) Mutual exclusiveness between PIK3CA and KRAS mutations in endometrial carcinoma. International journal of gynecological cancer: official journal of the International Gynecological Cancer Society 18: 1339-1343.
28. Konopka B, Janiec-Jankowska A, Kwiatkowska E, Najmola U, Bidzinski M, et al. (2011) PIK3CA mutations and amplification in endometrioid endometrial carcinomas: relation to other genetic defects and clinicopathologic status of the tumors. Human pathology.
29. Catasus L, Gallardo A, Cuatrecasas M, Prat J, (2008) PIK3CA mutations in the kinase domain (exon 20) of uterine endometrial adenocarcinomas are associated with adverse prognostic parameters. Modern pathology: an official journal of the United States and Canadian Academy of Pathology, Inc 21: 131-139.
30. Swisher EM, Peiffer-Schneider S, Mutch DG, Herzog TJ, Rader JS, et al. (1999) Differences in patterns of TP53 and KRAS2 mutations in a large series of endometrial carcinomas with or without microsatellite instability. Cancer 85: 119-126.
31. Bikkavilli RK, Malbon CC, (2009) Mitogen-activated protein kinases and Wnt/beta-catenin signaling: Molecular conversations among signaling pathways. Communicative & integrative biology 2: 46-49.
32. Rudd ML, Price JC, Fogoros S, Godwin AK, Sgroi DC, et al. (2011) A unique spectrum of somatic PIK3CA (p110alpha) mutations within primary endometrial carcinomas. Clinical cancer research: an official journal of the American Association for Cancer Research 17: 1331-1340.
33. Dutt A, Salvesen HB, Chen TH, Ramos AH, Onofrio RC, et al. (2008) Drug-sensitive FGFR2 mutations in endometrial carcinoma. Proceedings of the National Academy of Sciences of the United States of America 105: 8713-8717.
34. Engelsen IB, Akslen LA, Salvesen HB, (2009) Biologic markers in endometrial cancer treatment. APMIS: acta pathologica, microbiologica, et immunologica Scandinavica 117: 693-707.
35. Susini T, Amunni G, Molino C, Carriero C, Rapi S, et al. (2007) Ten-year results of a prospective study on the prognostic role of ploidy in endometrial carcinoma: dNA aneuploidy identifies high-risk cases among the so-called 'low-risk' patients with well and moderately differentiated tumors. Cancer 109: 882-890.
36. Lutman CV, Havrilesky LJ, Cragun JM, Secord AA, Calingaert B, et al. (2006) Pelvic lymph node count is an important prognostic variable for FIGO stage I and II endometrial carcinoma with high-risk histology. Gynecologic oncology 102: 92-97.
37. 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.
38. Greulich H, Pollock PM, (2011) Targeting mutant fibroblast growth factor receptors in cancer. Trends Mol Med 17: 283-292.