Recurrent BRAF kinase fusions in melanocytic tumors offer an opportunity for targeted therapy

Pigment Cell and Melanoma Research

Volumn 26, Issue 6, 2013, Pages 845-851

  Botton, Thomas ^a   Yeh, Iwei ^a   Nelson, Tyrrell ^a   Vemula, Swapna S ^a   Sparatta, Alyssa ^a   Garrido, Maria C ^a   Allegra, Maryline ^b   Rocchi, Stephane ^b   Bahadoran, Philippe ^b   Mccalmont, Timothy H ^a   Leboit, Philip E ^a   Burton, Elizabeth A ^c   Bollag, Gideon ^c   Ballotti, Robert ^b   Bastian, Boris C ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CENTRE MÉDITERRANÉEN DE MÉDECINE MOLÉCULAIRE C3M   (France)

^c PLEXXIKON INC   (United States)

Author keywords

BRAF; Kinase; Melanoma; Oncogenes; Translocation

Indexed keywords

AGK BRAF PROTEIN; HYBRID PROTEIN; SORAFENIB; TRANSCRIPTION FACTOR SOX6; UNCLASSIFIED DRUG; VEMURAFENIB;

5' UNTRANSLATED REGION; ADOLESCENT; ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; CELL PROLIFERATION; CELL STRUCTURE; CHILD; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; ENZYME ACTIVATION; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MALE; MELANOCYTE; MELANOMA; MELANOMA CELL; MOLECULARLY TARGETED THERAPY; PRESCHOOL CHILD; PROTEIN DOMAIN; SCHOOL CHILD; SIGNAL TRANSDUCTION; TUMOR CELL CULTURE;

BRAF; KINASE; MELANOMA; ONCOGENES; TRANSLOCATION;

ADOLESCENT; ADULT; CHILD, PRESCHOOL; ENZYME ACTIVATION; FEMALE; GENE REARRANGEMENT; HUMANS; INDOLES; MALE; MAP KINASE SIGNALING SYSTEM; MELANOCYTES; MELANOMA; MIDDLE AGED; MOLECULAR TARGETED THERAPY; NEVUS, EPITHELIOID AND SPINDLE CELL; NIACINAMIDE; ONCOGENE PROTEINS, FUSION; PHENYLUREA COMPOUNDS; PROTO-ONCOGENE PROTEINS B-RAF; SKIN NEOPLASMS; SULFONAMIDES; YOUNG ADULT;

EID: 84886292349     PISSN: 17551471     EISSN: 1755148X     Source Type: Journal    
DOI: 10.1111/pcmr.12148     Document Type: Article

References (25)

1. Barnier, J.V., Papin, C., Eychène, A., Lecoq, O., and Calothy, G. (1995). The mouse B-raf gene encodes multiple protein isoforms with tissue-specific expression. J. Biol. Chem. 270, 23381-23389.
2. Bastian, B.C., LeBoit, P.E., Hamm, H., Bröcker, E.-B., and Pinkel, D. (1998). Chromosomal gains and losses in primary cutaneous melanomas detected by comparative genomic hybridization. Cancer Res. 58, 2170-2175.
3. Bastian, B.C., LeBoit, P.E., and Pinkel, D. (2000). Mutations and copy number increase of HRAS in Spitz nevi with distinctive histopathological features. Am. J. Patholo. 157, 967-972.
4. Ciampi, R., Knauf, J.A., Kerler, R, Gandhi, M, Zhu, Z, Nikiforova, M.N., Rabes, H.M., Fagin, J.A., and Nikiforov, Y.E. (2005). Oncogenic AKAP9-BRAF fusion is a novel mechanism of MAPK pathway activation in thyroid cancer. J. Clin. Invest. 115, 94-101.
5. Cin, H., Meyer, C., and Herr, R. et al. (2011). Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma. Acta Neuropathol. 121, 763-774.
6. Curtin, J.A., Busam, K., Pinkel, D., and Bastian, B.C. (2006). Somatic Activation of KIT in Distinct Subtypes of Melanoma. J. Clin. Oncol. 24, 4340-4346.
7. Davies, H., Bignell, G.R., and Cox, C. et al. (2002). Mutations of the BRAF gene in human cancer. Nature 417, 949-954.
8. Dessars, B., De Raeve, L.E., Housni, H.E., Debouck, C.J., Sidon, P.J., Morandini, R., Roseeuw, D., Ghanem, G.E., Vassart, G., and Heimann, P. (2007). Chromosomal translocations as a mechanism of BRAF activation in two cases of large congenital melanocytic nevi. J. Invest. Dermatol. 127, 1468-1470.
9. Jones, D.T.W., Kocialkowski, S., Liu, L., Pearson, D.M., Bäcklund, L.M., Ichimura, K., and Collins, V.P. (2008). Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas. Cancer Res. 68, 8673-8677.
10. Li, H., and Durbin, R. (2009). Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (Oxford, England), 25, 1754-1760.
11. Li, H., and Durbin, R. (2010). Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics (Oxford, England), 26, 589-595.
12. McKenna, A., Hanna, M., and Banks, E., et al. (2010). The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297-1303.
13. Mercer, K.E., and Pritchard, C.A. (2003). Raf proteins and cancer: B-Raf is identified as a mutational target. Biochimica et Biophysica Acta (BBA) - Reviews on. Cancer 1653, 25-40.
14. Padua, R.A., Barrass, N., and Currie, G.A. (1984). A novel transforming gene in a human malignant melanoma cell line. Nature 311, 671-673.
15. Palanisamy, N., Ateeq, B., and Kalyana-Sundaram, S., et al. (2010). Rearrangements of the RAF kinase pathway in prostate cancer, gastric cancer and melanoma. Nat. Med. 16, 793-798.
16. Passeron, T., Lacour, J.-P., and Allegra, M., et al. (2011). Signalling and chemosensitivity assays in melanoma: is mutated status a prerequisite for targeted therapy? Exp. Dermatol. 20, 1030-1032.
17. Pollock, P.M., Harper, U.L., and Hansen, K.S., et al. (2003). High frequency of BRAF mutations in nevi. Nat. Genet. 33, 19-20.
18. Sievert, A.J., Lang, S.-S., Boucher, K.L., Madsen, P.J., Slaunwhite, E., Choudhari, N., Kellet, M., Storm, P.B., and Resnick, A.C. (2013). Paradoxical activation and RAF inhibitor resistance of BRAF protein kinase fusions characterizing pediatric astrocytomas. Proc. Natl Acad. Sci. USA 110, 5957-5962.
19. Smith, A.P., Hoek, K., and Becker, D. (2005). Whole-genome expression profiling of the melanoma progression pathway reveals marked molecular differences between nevi/melanoma in situ and advanced-stage melanomas. Cancer Biol. Ther. 4, 1018-1029.
20. Thorvaldsdóttir, H., Robinson, J.T., and Mesirov, J.P. (2013). Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration. Brief. Bioinform. 14, 178-192.
21. Tian, Y., Rich, B.E., and Vena, N. (2011). Detection of KIAA1549-BRAF fusion transcripts in formalin-fixed paraffin-embedded pediatric low-grade gliomas. J. Mol. Diagn. 13, 669-677.
22. Van Raamsdonk, C.D., Bezrookove, V., Green, G., Bauer, J., Gaugler, L., O'Brien, J.M., Simpson, E.M., Barsh, G.S., and Bastian, B.C. (2009). Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature 457, 599-602.
23. Van Raamsdonk, C.D., Griewank, K.G., and Crosby, M.B., et al. (2010). Mutations in GNA11 in Uveal Melanoma. N. Engl. J. Med. 363, 2191-2199.
24. Wang, K., Li, M., and Hakonarson, H. (2010). ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38, e164.
25. Wang, J., Mullighan, C.G., and Easton, J. et al. (2011). CREST maps somatic structural variation in cancer genomes with base-pair resolution. Nat. Methods 8, 652-654.