Identification of targetable FGFR gene fusions in diverse cancers

Cancer Discovery

Volumn 3, Issue 6, 2013, Pages 636-647

  Wu, Yi Mi ^a,b   Su, Fengyun ^a,b   Kalyana Sundaram, Shanker ^a,b   Khazanov, Nickolay ^c   Ateeq, Bushra ^a,b   Cao, Xuhong ^a,b   Lonigro, Robert J ^a,b   Vats, Pankaj ^a,b   Wang, Rui ^a,b   Lin, Su Fang ^d   Cheng, Ann Joy ^e   Kunju, Lakshmi P ^a,b   Siddiqui, Javed ^a,b   Tomlins, Scott A ^a,b   Wyngaard, Peter ^c   Sadis, Seth ^c   Roychowdhury, Sameek ^a,b   Hussain, Maha H ^b   Feng, Felix Y ^a,b   Zalupski, Mark M ^b   Talpaz, Moshe ^b   Pienta, Kenneth J ^a,b   Rhodes, Daniel R ^a,b,c   Robinson, Dan R ^a,b   Chinnaiyan, Arul M ^a,b   more..

^a UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c Departments of Compendia Bioscience   (United States)

^d NATIONAL HEALTH RESEARCH INSTITUTES   (Taiwan)

^e CHANG GUNG UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; FIBROBLAST GROWTH FACTOR RECEPTOR 2; SMALL INTERFERING RNA; TRANSCRIPTOME;

ADULT; ANIMAL TISSUE; ARTICLE; BILE DUCT CARCINOMA; BREAST CANCER; CANCER CELL CULTURE; CASE REPORT; CELL PROLIFERATION; COPY NUMBER VARIATION; DNA ISOLATION; DNA LIBRARY; FEMALE; GENE FUSION; GENE MUTATION; GENE OVEREXPRESSION; GLEASON SCORE; HIGH THROUGHPUT SEQUENCING; HUMAN; HUMAN CELL; MALE; MOUSE; NEOPLASM; NONHUMAN; PROSTATE CANCER; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA ISOLATION;

ANIMALS; GENE FUSION; GENE KNOCKDOWN TECHNIQUES; GENE REARRANGEMENT; HIGH-THROUGHPUT SCREENING ASSAYS; HUMANS; MALE; MICE; MICE, SCID; MOLECULAR TARGETED THERAPY; NEOPLASMS; ONCOGENE PROTEINS, FUSION; PROSPECTIVE STUDIES; RECEPTORS, FIBROBLAST GROWTH FACTOR; SIGNAL TRANSDUCTION; XENOGRAFT MODEL ANTITUMOR ASSAYS;

EID: 84878781242     PISSN: 21598274     EISSN: 21598290     Source Type: Journal    
DOI: 10.1158/2159-8290.CD-13-0050     Document Type: Article

References (44)

1. Chin L, Andersen JN, Futreal PA. Cancer genomics: from discovery science to personalized medicine. Nat Med 2011; 17: 297-303.
2. Meyerson M, Gabriel S, Getz G. Advances in understanding cancer genomes through second-generation sequencing. Nat Rev Genet 2010; 11: 685-96.
3. Roychowdhury S, Iyer MK, Robinson DR, Lonigro RJ, Wu YM, Cao X, et al. Personalized oncology through integrative high-throughput sequencing: a pilot study. Sci Transl Med 2011; 3: 111-121.
4. Welch JS, Westervelt P, Ding L, Larson DE, Klco JM, Kulkarni S, et al. Use of whole-genome sequencing to diagnose a cryptic fusion oncogene. JAMA 2011; 305: 1577-84.
5. Rowley JD. Letter: A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature 1973; 243: 290-3.
6. Druker BJ. Translation of the Philadelphia chromosome into therapy for CML. Blood 2008; 112: 4808-17.
7. Tomlins SA, Rhodes DR, Perner S, Dhanasekaran SM, Mehra R, Sun XW, et al. Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer. Science 2005; 310: 644-8.
8. Perner S, Wagner PL, Demichelis F, Mehra R, Lafargue CJ, Moss BJ, et al. EML4-ALK fusion lung cancer: a rare acquired event. Neoplasia 2008; 10: 298-302.
9. Robinson DR, Kalyana-Sundaram S, Wu YM, Shankar S, Cao X, Ateeq B, et al. Functionally recurrent rearrangements of the MAST kinase and Notch gene families in breast cancer. Nat Med 2011; 17: 1646-51.
10. Santoro M, Melillo RM, Fusco A. RET/PTC activation in papillary thyroid carcinoma: European Journal of Endocrinology Prize Lecture. Eur J Endocrinol 2006; 155: 645-53.
11. Seshagiri S, Stawiski EW, Durinck S, Modrusan Z, Storm EE, Conboy CB, et al. Recurrent R-spondin fusions in colon cancer. Nature 2012; 488: 660-4.
12. Soda M, Choi YL, Enomoto M, Takada S, Yamashita Y, Ishikawa S, et al. Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer. Nature 2007; 448: 561-6.
13. Gerber DE, Minna JD. ALK inhibition for non-small cell lung cancer: from discovery to therapy in record time. Cancer Cell 2010; 18: 548-51
14. Kwak EL, Bang YJ, Camidge DR, Shaw AT, Solomon B, Maki RG, et al. Anaplastic lymphoma kinase inhibition in non-small-cell lung cancer. N Engl J Med 2010; 363: 1693-703.
15. Singh D, Chan JM, Zoppoli P, Niola F, Sullivan R, Castano A, et al. Transforming fusions of FGFR and TACC genes in human glioblastoma. Science 2012; 337: 1231-5.
16. Williams SV, Hurst CD, Knowles MA. Oncogenic FGFR3 gene fusions in bladder cancer. Hum Mol Genet 2013; 22: 795-803.
17. Lamont FR, Tomlinson DC, Cooper PA, Shnyder SD, Chester JD, Knowles MA. Small molecule FGF receptor inhibitors block FGFRdependent urothelial carcinoma growth in vitro and in vivo. Br JCancer 2011; 104: 75-82.
18. Liang G, Liu Z, Wu J, Cai Y, Li X. Anticancer molecules targeting fibroblast growth factor receptors. Trends Pharmacol Sci 2012; 33: 531-41.
19. Wilson BG, Roberts CW. SWI/SNF nucleosome remodellers and cancer. Nat Rev Cancer 2011; 11: 481-92.
20. Tomlins SA, Laxman B, Dhanasekaran SM, Helgeson BE, Cao X, Morris DS, et al. Distinct classes of chromosomal rearrangements create oncogenic ETS gene fusions in prostate cancer. Nature 2007; 448: 595-9.
21. Glinsky GV, Glinskii AB, Stephenson AJ, Hoffman RM, Gerald WL. Gene expression profiling predicts clinical outcome of prostate cancer. J Clin Invest 2004; 113: 913-23.
22. Turner N, Grose R. Fibroblast growth factor signalling: from development to cancer. Nat Rev Cancer 2010; 10: 116-29.
23. Browman DT, Hoegg MB, Robbins SM. The SPFH domain-containing proteins: more than lipid raft markers. Trends Cell Biol 2007; 17: 394-402.
24. Chai J, Wu Q, Shiozaki E, Srinivasula SM, Alnemri ES, Shi Y. Crystal structure of a procaspase-7 zymogen: mechanisms of activation and substrate binding. Cell 2001; 107: 399-407.
25. Ishizaki T, Naito M, Fujisawa K, Maekawa M, Watanabe N, Saito Y, et al. p160ROCK, a Rho-associated coiled-coil forming protein kinase, works downstream of Rho and induces focal adhesions. FEBS Lett 1997; 404: 118-24.
26. Knight MJ, Leettola C, Gingery M, Li H, Bowie JU. A human sterile alpha motif domain polymerizome. Protein Sci 2011; 20: 1697-706.
27. Mateja A, Cierpicki T, Paduch M, Derewenda ZS, Otlewski J. The dimerization mechanism of LIS1 and its implication for proteins containing the LisH motif. J Mol Biol 2006; 357: 621-31.
28. Peter BJ, Kent HM, Mills IG, Vallis Y, Butler PJ, Evans PR, et al. BAR domains as sensors of membrane curvature: the amphiphysin BAR structure. Science 2004; 303: 495-9.
29. Tong Q, Li Y, Smanik PA, Fithian LJ, Xing S, Mazzaferri EL, et al. Characterization of the promoter region and oligomerization domain of H4 (D10S170), a gene frequently rearranged with the ret protooncogene. Oncogene 1995; 10: 1781-7.
30. Seo JS, Ju YS, Lee WC, Shin JY, Lee JK, Bleazard T, et al. The transcriptional landscape and mutational profile of lung adenocarcinoma. Genome Res 2012; 22: 2109-19.
31. Mohammadi M, Froum S, Hamby JM, Schroeder MC, Panek RL, Lu GH, et al. Crystal structure of an angiogenesis inhibitor bound to the FGF receptor tyrosine kinase domain. EMBO J 1998; 17: 5896-904.
32. Miyake M, Ishii M, Koyama N, Kawashima K, Kodama T, Anai S, et al. 1-tert-butyl-3-[6-(3,5-dimethoxy-phenyl)-2-(4-diethylamino- butylamino)-pyrido[2,3-d]pyrimidin-7-yl]-urea (PD173074), a selective tyrosine kinase inhibitor of fibroblast growth factor receptor- 3 (FGFR3), inhibits cell proliferation of bladder cancer carrying the FGFR3 gene mutation along with up-regulation of p27/Kip1 and G1/G0 arrest. J Pharmacol Exp Ther 2010; 332: 795-802.
33. Guagnano V, Kauffmann A, Wohrle S, Stamm C, Ito M, Barys L, et al. FGFR genetic alterations predict for sensitivity to NVP-BGJ398, a selective pan-FGFR inhibitor. Cancer Discov 2012; 2: 1118-33.
34. Wesche J, Haglund K, Haugsten EM. Fibroblast growth factors and their receptors in cancer. Biochem J 2011; 437: 199-213.
35. Jackson CC, Medeiros LJ, Miranda RN. 8p11 myeloproliferative syndrome: a review. Hum Pathol 2010; 41: 461-76.
36. Yagasaki F, Wakao D, Yokoyama Y, Uchida Y, Murohashi I, Kayano H, et al. Fusion of ETV6 to fibroblast growth factor receptor 3 in peripheral T-cell lymphoma with a t(4;12)(p16;p13) chromosomal translocation. Cancer Res 2001; 61: 8371-4.
37. Parker BC, Annala MJ, Cogdell DE, Granberg KJ, Sun Y, Ji P, et al. The tumorigenic FGFR3-TACC3 gene fusion escapes miR-99a regulation in glioblastoma. J Clin Invest 2013; 123: 855-65.
38. Cha JY, Maddileti S, Mitin N, Harden TK, Der CJ. Aberrant receptor internalization and enhanced FRS2-dependent signaling contribute to the transforming activity of the fibroblast growth factor receptor 2 IIIb C3 isoform. J Biol Chem 2009; 284: 6227-40.
39. Scher HI, Beer TM, Higano CS, Anand A, Taplin ME, Efstathiou E, et al. Antitumour activity of MDV3100 in castration-resistant prostate cancer: a phase 1-2 study. Lancet 2010; 375: 1437-46.
40. Brooks AN, Kilgour E, Smith PD. Molecular pathways: fibroblast growth factor signaling: a new therapeutic opportunity in cancer. Clin Cancer Res 2012; 18: 1855-62.
41. Greulich H, Pollock PM. Targeting mutant fibroblast growth factor receptors in cancer. Trends Mol Med 2011; 17: 283-92.
42. Langmead B. Aligning short sequencing reads with Bowtie. Curr Protoc Bioinformatics 2010; Chapter 11:Unit 11.7.
43. Lonigro RJ, Grasso CS, Robinson DR, Jing X, Wu YM, Cao X, et al. Detection of somatic copy number alterations in cancer using targeted exome capture sequencing. Neoplasia 2011; 13: 1019-25.
44. Grasso CS, Wu YM, Robinson DR, Cao X, Dhanasekaran SM, Khan AP, et al. The mutational landscape of lethal castration-resistant prostate cancer. Nature 2012; 487: 239-43.