Identification of KIF5B-RET and GOPC-ROS1 fusions in lung adenocarcinomas through a comprehensive mRNA-based screen for tyrosine kinase fusions

Clinical Cancer Research

Volumn 18, Issue 24, 2012, Pages 6599-6608

  Suehara, Yoshiyuki ^a   Arcila, Maria ^a   Wang, Lu ^a   Hasanovic, Adnan ^a   Ang, Daphne ^a   Ito, Tatsuo ^a   Kimura, Yuki ^a   Drilon, Alexander ^a   Guha, Udayan ^b   Rusch, Valerie ^a   Kris, Mark G ^a   Zakowski, Maureen F ^a   Rizvi, Naiyer ^a   Khanin, Raya ^a   Ladanyi, Marc ^a  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^b NATIONAL CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANAPLASTIC LYMPHOMA KINASE; B RAF KINASE; COMPLEMENTARY DNA; EPIDERMAL GROWTH FACTOR RECEPTOR; EPIDERMAL GROWTH FACTOR RECEPTOR 2; K RAS PROTEIN; MESSENGER RNA; MITOGEN ACTIVATED PROTEIN KINASE KINASE 1; PROTEIN TYROSINE KINASE; RNA; TUMOR RNA; UNCLASSIFIED DRUG;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ARTICLE; CONTROLLED STUDY; ENZYMATIC ASSAY; EXON; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE EXPRESSION; GENE FUSION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; HUMAN TISSUE; LUNG ADENOCARCINOMA; MAJOR CLINICAL STUDY; MALE; MOLECULAR PROBE; ONCOGENE; ONCOGENE ALK; ONCOGENE BRAF; ONCOGENE EGFR; ONCOGENE GOPC; ONCOGENE K RAS; ONCOGENE KIF5B; ONCOGENE MEK1; ONCOGENE NEU; ONCOGENE RET; ONCOGENE ROS1; PRIORITY JOURNAL; PROTEIN DOMAIN; RAPID AMPLIFICATION OF CDNA ENDS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA HYBRIDIZATION; SMOKING;

ADENOCARCINOMA; ADOLESCENT; AGED; AGED, 80 AND OVER; BASE SEQUENCE; CARRIER PROTEINS; CATALYTIC DOMAIN; CELL LINE, TUMOR; FEMALE; GENETIC TESTING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LUNG NEOPLASMS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; ONCOGENE PROTEINS, FUSION; PROTEIN-TYROSINE KINASES; PROTO-ONCOGENE PROTEINS; RECEPTOR PROTEIN-TYROSINE KINASES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA;

EID: 84871181092     PISSN: 10780432     EISSN: 15573265     Source Type: Journal    
DOI: 10.1158/1078-0432.CCR-12-0838     Document Type: Article

References (38)

1. Pao W, Iafrate AJ, Su Z. Genetically informed lung cancer medicine. J Pathol 2011;223:230-40.
2. Pao W, Girard N. New driver mutations in non-small-cell lung cancer. Lancet Oncol 2011;12:175-80.
3. Johnson BE, Kris MG, Kwiatkowski DJ, Iafrate AJ, Wistuba II, Shyr Y, et al. Clinical characteristics of planned 1000 patients with adenocarcinoma of lung (ACL) undergoing genomic characterization in the US Lung Cancer Mutation Consortium (LCMC). J Thorac Oncol 2011;6:S346.
4. D'Angelo SP, Park B, Azzoli CG, Kris MG, Rusch V, Ladanyi M, et al. Reflex testing of resected stage I through III lung adenocarcinomas for EGFR and KRAS mutation: report on initial experience and clinical utility at a single center. J Thor Cardiovasc Surg 2011;141:476-80.
5. Arcila ME, Chaft JE, Nafa K, Roy-Chowdhuri S, Lau C, Zaidinski M, et al. Prevalence, clinicopathologic associations and molecular spectrum of ERBB2 (HER2) tyrosine kinase mutations in lung adenocarcinomas. Clin Cancer Res 2012;18:4910-8.
6. Wang L, Motoi T, Khanin R, Olshen A, Mertens F, Bridge J, et al. Identification of a novel, recurrent HEY1-NCOA2 fusion in mesenchymal chondrosarcoma based on a genome-wide screen of exon-level expression data. Genes Chromosomes Cancer 2012;51:127-39.
7. Su Z, Dias-Santagata D, Duke M, Hutchinson K, Lin YL, Borger DR, et al. A platform for rapid detection of multiple oncogenic mutations with relevance to targeted therapy in non-small-cell lung cancer. J Mol Diagn 2011;13:74-84.
8. Pan Q, Pao W, Ladanyi M. Rapid PCR-based detection of epidermal growth factor receptor gene mutations in lung adenocarcinomas. J Mol Diagn 2005;7:396-403. (Pubitemid 41149655)
9. Chaft JE, Arcila ME, Paik PK, Lau C, Riely GJ, Pietanza MC, et al. Coexistence of PIK3CA and other oncogene mutations in lung ade-nocarcinoma- rationale for comprehensive mutation profiling. Mol Cancer Ther 2012;11:485-91.
10. Reis PP, Waldron L, Goswami RS, Xu W, Xuan Y, Perez-Ordonez B, et al. mRNA transcript quantification in archival samples using multiplexed, color-coded probes. BMC Biotechnol 2011;11:46.
11. Payton JE, Grieselhuber NR, Chang LW, Murakami M, Geiss GK, Link DC, et al. High throughput digital quantification ofmRNAabundance in primary human acute myeloid leukemia samples. J Clin Invest 2009;119:1714-26.
12. Chmielecki J, Peifer M, Jia P, Socci ND, Hutchinson K, Viale A, et al. Targeted next-generation sequencing of DNA regions proximal to a conserved GXGXXG signaling motif enables systematic discovery of tyrosine kinase fusions in cancer. Nucleic Acids Res 2010;38:6985-96.
13. Rikova K, Guo A, Zeng Q, Possemato A, Yu J, Haack H, et al. Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer. Cell 2007;131:1190-203. (Pubitemid 350235027)
14. 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.
15. 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.
16. Riely GJ, Chaft JE, Ladanyi M, Kris MG. Incorporation of crizotinib into the NCCN guidelines. J Natl Compr Canc Netw 2011;9:1328-30.
17. 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.
18. Charest A, Lane K, McMahon K, Park J, Preisinger E, Conroy H, et al. Fusion of FIG to the receptor tyrosine kinase ROS1 in a glioblastoma with an interstitial del(6)(q21q21). Genes Chromosomes Cancer 2003;37:58-71. (Pubitemid 36417922)
19. Charest A, Wilker EW, McLaughlin ME, Lane K, Gowda R, Coven S, et al. ROS1 fusion tyrosine kinase activates a SH2 domain-containing phosphatase-2/phosphatidylinositol 3-kinase/mammalian target of rapamycin signaling axis to form glioblastoma in mice. Cancer Res 2006;66:7473-81. (Pubitemid 44289201)
20. Takeuchi K, Soda M, Togashi Y, Suzuki R, Sakata S, Hatano S, et al. RET, ROS1 and ALK fusions in lung cancer. Nat Med 2012;18:378-81.
21. Bergethon K, Shaw AT, Ignatius Ou SH, Katayama R, Lovly CM, McDonald NT, et al. ROS1 rearrangements define a unique molecular class of lung cancers. J Clin Oncol 2012;30:863-70.
22. Li C, Fang R, Sun Y, Han X, Li F, Gao B, et al. Spectrum of oncogenic driver mutations in lung adenocarcinomas from East Asian never smokers. PLoS One 2011;6:e28204.
23. Rimkunas VM, Crosby KE, Li D, Hu Y, Kelly ME, Gu TL, et al. Analysis of receptor tyrosine kinase ROS1-positive tumors in non-small cell lung cancer: identifi cation of a FIG-ROS1 fusion. Clin Cancer Res 2012;18:4449-57.
24. Lipson D, Capelletti M, Yelensky R, Otto G, Parker A, Jarosz M, et al. Identification of new ALK and RET gene fusions from colorectal and lung cancer biopsies. Nat Med 2012;18:382-4.
25. Kohno T, Ichikawa H, Totoki Y, Yasuda K, Hiramoto M, Nammo T, et al. KIF5B-RET fusions in lung adenocarcinoma. Nat Med 2012;18:375-7.
26. Ju YS, Lee WC, Shin JY, Lee S, Bleazard T, Won JK, et al. A transforming KIF5B and RET gene fusion in lung adenocarcinoma revealed from whole-genome and transcriptome sequencing. Genome Res 2012;22:436-45.
27. Pao W, Hutchinson KE. Chipping away at the lung cancer genome. Nat Med 2012;18:349-51.
28. Castellone MD, Santoro M. Dysregulated RET signaling in thyroid cancer. Endocrinol Metab Clin North Am 2008;37:363-74, viii. (Pubitemid 351698089)
29. Socinski MA, Novello S, Brahmer JR, Rosell R, Sanchez JM, Belani CP, et al. Multicenter, phase II trial of sunitinib in previously treated, advanced non-small-cell lung cancer. J Clin Oncol 2008;26:650-6. (Pubitemid 351264362)
30. Novello S, Scagliotti GV, Rosell R, Socinski MA, Brahmer J, Atkins J, et al. Phase II study of continuous daily sunitinib dosing in patients with previously treated advanced non-small cell lung cancer. Br J Cancer 2009;101:1543-8.
31. Scagliotti G, Novello S, von PJ, Reck M, Pereira JR, Thomas M, et al. Phase III study of carboplatin and paclitaxel alone or with sorafenib in advanced non-small-cell lung cancer. J Clin Oncol 2010;28:1835-42.
32. Nikiforov YE, Rowland JM, Bove KE, Monforte-Munoz H, Fagin JA. Distinct pattern of ret oncogene rearrangements in morphological variants of radiation-induced and sporadic thyroid papillary carcinomas in children. Cancer Res 1997;57:1690-4. (Pubitemid 27199660)
33. Hamatani K, Eguchi H, Ito R, Mukai M, Takahashi K, Taga M, et al. RET/ PTC rearrangements preferentially occurred in papillary thyroid cancer among atomic bomb survivors exposed to high radiation dose. Cancer Res 2008;68:7176-82.
34. Nikiforov YE, Koshoffer A, Nikiforova M, Stringer J, Fagin JA. Chromosomal breakpoint positions suggest a direct role for radiation in inducing illegitimate recombination between the ELE1 and RET genes in radiation-induced thyroid carcinomas. Oncogene 1999;18:6330-4.
35. Nikiforova MN, Stringer JR, Blough R, Medvedovic M, Fagin JA, Nikiforov YE. Proximity of chromosomal loci that participate in radiation-induced rearrangements in human cells. Science 2000;290:138-41.
36. Gandhi M, Evdokimova V, Nikiforov YE. Mechanisms of chromosomal rearrangements in solid tumors: the model of papillary thyroid carcinoma. Mol Cell Endocrinol 2010;321:36-43.
37. Ozasa K, Shimizu Y, Suyama A, Kasagi F, Soda M, Grant EJ, et al. Studies of the mortality of atomic bomb survivors, report 14, 1950-2003: an overview of cancer and noncancer diseases. Radiat Res 2012;177:229- 43.
38. Rage E, Vacquier B, Blanchardon E, Allodji RS, Marsh JW, Caer-Lorho S, et al. Risk of lung cancer mortality in relation to lung doses among French uranium miners: follow-up 1956-1999. Radiat Res 2012;177:288-97.