The distribution of BRAF gene fusions in solid tumors and response to targeted therapy

International Journal of Cancer

Volumn 138, Issue 4, 2016, Pages 881-890

  Ross, Jeffrey S ^a,b   Wang, Kai ^a   Chmielecki, Juliann ^a   Gay, Laurie ^a   Johnson, Adrienne ^a   Chudnovsky, Jacob ^a   Yelensky, Roman ^a   Lipson, Doron ^a   Ali, Siraj M ^a   Elvin, Julia A ^a   Vergilio, Jo Anne ^a   Roels, Steven ^a   Miller, Vincent A ^a   Nakamura, Brooke N ^c   Gray, Adam ^c   Wong, Michael K ^c   Stephens, Philip J ^a  

^a FOUNDATION MEDICINE   (United States)

^b ALBANY MEDICAL COLLEGE   (United States)

^c UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

BRAF fusions; cancer; comprehensive genomic profiling; NGS; pancreatic acinar carcinoma; pilocytic astrocytoma; solid tumors; Sptizoid melanoma; targeted therapy

Indexed keywords

B RAF KINASE; BEVACIZUMAB; SORAFENIB; TEMSIROLIMUS; TRAMETINIB; ANTINEOPLASTIC AGENT; BRAF PROTEIN, HUMAN; CARBANILAMIDE DERIVATIVE; NICOTINAMIDE; ONCOPROTEIN; PROTEIN KINASE INHIBITOR; PYRIDONE DERIVATIVE; PYRIMIDINONE DERIVATIVE; TRANSCRIPTOME;

ACINAR CELL CARCINOMA; ADULT; AGED; ARTICLE; BRAF GENE; CANCER CLASSIFICATION; CHILD; COLORECTAL CANCER; FEMALE; GENE EXPRESSION PROFILING; GENE FUSION; GLIOMA; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MELANOMA; MIDDLE AGED; MOLECULARLY TARGETED THERAPY; NON SMALL CELL LUNG CANCER; NON SPITZOID MELANOMA; NONPILOCYTIC GLIOMA; PANCREAS CARCINOMA; PILOCYTIC GLIOMA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; RETROSPECTIVE STUDY; SCHOOL CHILD; SOFT TISSUE SARCOMA; SOLID TUMOR; SPITZOID MELANOMA; THYROID CANCER; THYROID PAPILLARY CARCINOMA; TREATMENT RESPONSE; TUMOR GENE; VERY ELDERLY; YOUNG ADULT; ADOLESCENT; ANALOGS AND DERIVATIVES; GENETICS; INFANT; NEOPLASMS; PROCEDURES; TREATMENT OUTCOME;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ANTINEOPLASTIC AGENTS; CHILD; CHILD, PRESCHOOL; FEMALE; GENE EXPRESSION PROFILING; HUMANS; INFANT; MALE; MIDDLE AGED; MOLECULAR TARGETED THERAPY; NEOPLASMS; NIACINAMIDE; ONCOGENE PROTEINS, FUSION; PHENYLUREA COMPOUNDS; PROTEIN KINASE INHIBITORS; PROTO-ONCOGENE PROTEINS B-RAF; PYRIDONES; PYRIMIDINONES; TRANSCRIPTOME; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84954362494     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.29825     Document Type: Article

References (41)

1. Davies H, Bignell GR, Cox C, et al., Mutations of the BRAF gene in human cancer. Nature 2002; 417: 949-54.
2. El-Osta H, Falchook G, Tsimberidou A, et al., BRAF mutations in advanced cancers: clinical characteristics and outcomes. PLoS One 2011; 6: e25806
3. Pakneshan S, Salajegheh A, Smith RA, et al., Clinicopathological relevance of BRAF mutations in human cancer. Pathology 2013; 45: 346-56.
4. Vultur A, Villanueva J, Herlyn M., Targeting BRAF in advanced melanoma: a first step toward manageable disease. Clin Cancer Res 2011; 17: 1658-63.
5. Cantwell-Dorris ER, O'Leary JJ, Sheils OM., BRAF(V600E): implications for carcinogenesis and molecular therapy. Mol Cancer Ther 2011; 10: 385-94.
6. Holderfield M, Deuker MM, McCormick F, et al., Targeting RAF kinases for cancer therapy: BRAF-mutated melanoma and beyond. Nat Rev Cancer 2014; 14: 455-67.
7. Montagut C, Settleman J., Targeting the RAF-MEK-ERK pathway in cancer therapy. Cancer Lett 2009; 283: 125-34.
8. Dadu R, Shah K, Busaidy NL, et al., Efficacy and tolerability of vemurafenib in patients with BRAF(V600E)-positive papillary thyroid cancer: MD Anderson Cancer Center Off Label Experience. J Clin Endocrinol Metab 2015; 100: E77-E81.
9. Haroche J, Cohen-Aubart F, Emile J-F, et al., Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation. Blood 2013; 121: 1495-500.
10. Haroche J, Cohen-Aubart F, Emile J-F, et al., Reproducible and sustained efficacy of targeted therapy with vemurafenib in patients with BRAF(V600E)-mutated Erdheim-Chester disease. J Clin Oncol 2015; 33: 411-U52.
11. Pettirossi V, Santi A, Imperi E, et al., BRAF inhibitors reverse the unique molecular signature and phenotype of hairy cell leukemia and exert potent antileukemic activity. Blood 2015; 125: 1207-16.
12. Corcoran RB, Ebi H, Turke AB, et al., EGFR-mediated reactivation of MAPK signaling contributes to insensitivity of BRAF-mutant colorectal cancers to RAF inhibition with vemurafenib. Cancer Discov 2012; 2: 227-35.
13. Palanisamy N, Ateeq B, Kalyana-Sundaram S, et al., Rearrangements of the RAF kinase pathway in prostate cancer, gastric cancer and melanoma. Nat Med 2010; 16: 793-8.
14. Karajannis MA, Legault G, Fisher MJ, et al., Phase II study of sorafenib in children with recurrent or progressive low-grade astrocytomas. Neuro Oncol 2014; 16: 1408-16.
15. Frampton GM, Fichtenholtz A, Otto GA, et al., Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing. Nat Biotechnol 2013; 31: 1023 +.
16. Compeau PEC, Pevzner PA, Tesler G., How to apply de Bruijn graphs to genome assembly. Nat Biotechnol 2011; 29: 987-91.
17. Forbes SA, Bindal N, Bamford S, et al., COSMIC: mining complete cancer genomes in the catalogue of somatic mutations in cancer. Nucleic Acids Res 2011; 39: D945-D50.
18. Botton T, Yeh I, Nelson T, et al., Recurrent BRAF kinase fusions in melanocytic tumors offer an opportunity for targeted therapy. Pigment Cell Melanoma Res 2013; 26: 845-51.
19. Ciampi R, Knauf JA, Kerler R, et al., Oncogenic AKAP9-BRAF fusion is a novel mechanism of MAPK pathway activation in thyroid cancer. J Clin Invest 2005; 115: 94-101.
20. Hutchinson KE, Lipson D, Stephens PJ, et al., BRAF fusions define a distinct molecular subset of melanomas with potential sensitivity to MEK inhibition. Clin Cancer Res 2013; 19: 6696-702.
21. Jones DTW, Kocialkowski S, Liu L, et al., Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas. Cancer Res 2008; 68: 8673-7.
22. Lee NV, Lira ME, Pavlicek A, et al., A novel SND1-BRAF fusion confers resistance to c-Met inhibitor PF-04217903 in GTL16 cells though MAPK activation. PLoS One 2012; 7: e39653.
23. Stransky N, Cerami E, Schalm S, et al., The landscape of kinase fusions in cancer. Nat Commun 2014; 5: 4846
24. Jones DT, Hutter B, Jäger N, et al., Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. Nat Genet 2013; 45: 927-32.
25. Kim HS, Jang KW, Jung M, et al., Oncogenic BRAF fusion induces MAPK-pathway activation targeted by MEK inhibitor and phosphatidylinositol 3-kinase inhibitor combination treatment in mucosal melanoma AACR abstract. 2015; 75 (15 Suppl): Abstract 3942.
26. Yeh I, Botton T, Talevich E, et al., Activating MET kinase rearrangements in melanoma and Spitz tumours. Nat Commun 2015; 6: 7174
27. Menzies AM, Yeh I, Botton T, et al., Clinical activity of the MEK inhibitor trametinib in metastatic melanoma containing BRAF kinase fusion. Pigment Cell Melanoma Res 2015; 28: 607-10.
28. Cohen AL, Colman H., Glioma biology and molecular markers. Cancer Treat Res 2015; 163: 15-30.
29. Jones DTW, Kocialkowski S, Liu L, et al., Oncogenic RAF1 rearrangement and a novel BRAF mutation as alternatives to KIAA1549:BRAF fusion in activating the MAPK pathway in pilocytic astrocytoma. Oncogene 2009; 28: 2119-23.
30. Sadighi Z, Slopis J., Pilocytic astrocytoma: a disease with evolving molecular heterogeneity. J Child Neurol 2013; 28: 625-32.
31. Goel VK, Lazar AJF, Warneke CL, et al., Examination of mutations in BRAF, NRAS, and PTEN in primary cutaneous melanoma. J Invest Dermatol 2006; 126: 154-60.
32. Wiesner T, He J, Yelensky R, et al., Kinase fusions are frequent in Spitz tumours and spitzoid melanomas. Nat Commun 2014; 5: 3116.
33. Chmielecki J, Hutchinson KE, Frampton GM, et al., Comprehensive genomic profiling of pancreatic acinar cell carcinomas identifies recurrent RAF fusions and frequent inactivation of DNA repair genes. Cancer Discov 2014; 4: 1398-405.
34. Tran NH, Wu XC, Frost JA., BRaf and Raf-1 are regulated by distinct autoregulatory mechanisms. J Biol Chem 2005; 280: 16244-53.
35. Baitei EY, Zou M, Al-Mohanna F, et al., Aberrant BRAF splicing as an alternative mechanism for oncogenic B-Raf activation in thyroid carcinoma. J Pathol 2009; 217: 707-15.
36. Paik PK, Arcila ME, Fara M, et al., Clinical characteristics of patients with lung adenocarcinomas harboring BRAF mutations. J Clin Oncol 2011; 29: 2046-51.
37. Yokota T, Ura T, Shibata N, Takahari D, Shitara K, Nomura M, Kondo C, Mizota A, Utsunomiya S, Muro K, Yatabe Y., BRAF mutation is a powerful prognostic factor in advanced and recurrent colorectal cancer. Br J Cancer 2011; 104: 856-62.
38. Passeron T, Lacour J-P, Allegra M, et al., Signalling and chemosensitivity assays in melanoma: is mutated status a prerequisite for targeted therapy? Exp Dermatol 2011; 20: 1030-2.
39. Subbiah V, Westin SN, Wang K, et al., Targeted therapy by combined inhibition of the RAF and mTOR kinases in malignant spindle cell neoplasm harboring the KIAA1549-BRAF fusion protein. J Hematol Oncol 2014; 7: 8
40. Wilhelm S, Carter C, Lynch M, et al., Discovery and development of sorafenib: a multikinase inhibitor for treating cancer. Nat Rev Drug Discov 2006; 5: 835-44.
41. Passeron T, Lacour JP, Allegra M, et al., Signalling and chemosensitivity assays in melanoma: is mutated status a prerequisite for targeted therapy? Exp Dermatol. 2011; 20: 1030-2.