BRAFV600E mutations in high-grade colorectal neuroendocrine tumors may predict responsiveness to BRAF-MEK combination therapy

Cancer Discovery

Volumn 6, Issue 6, 2016, Pages 594-600

  Klempner, Samuel J ^a   Gershenhorn, Bruce ^b   Tran, Phu ^a   Lee, Thomas K ^a   Erlander, Mark G ^c   Gowen, Kyle ^d   Schrock, Alexa B ^d   Morosini, Deborah ^d   Ross, Jeffrey S ^d,e   Stephens, Philip J ^d   Ou, Sai Hong Ignatius ^a   Ali, Siraj M ^d  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b CANCER TREATMENT CENTERS OF AMERICA   (United States)

^c Trovagene Inc   (United States)

^d FOUNDATION MEDICINE   (United States)

^e ALBANY MEDICAL COLLEGE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; CARBOPLATIN; DABRAFENIB; DOCETAXEL; ETOPOSIDE; TEMOZOLOMIDE; TRAMETINIB; VEMURAFENIB; ANTINEOPLASTIC AGENT; CODON; PROTEIN KINASE INHIBITOR;

ABDOMINAL PAIN; ADULT; AGED; ARTICLE; CASE REPORT; CHEMORADIOTHERAPY; CIRCULATING TUMOR CELL; COLORECTAL CARCINOMA; COLORECTAL NEUROENDOCRINE TUMOR; FEMALE; GENE FREQUENCY; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LIVER BIOPSY; METASTASIS; MICROSATELLITE INSTABILITY; RECTUM HEMORRHAGE; AMINO ACID SUBSTITUTION; ANTAGONISTS AND INHIBITORS; BIOPSY; CANCER GRADING; CODON; COLORECTAL NEOPLASMS; DRUG EFFECTS; GENETICS; MOLECULARLY TARGETED THERAPY; MUTATION; NEUROENDOCRINE TUMORS; POSITRON EMISSION TOMOGRAPHY-COMPUTED TOMOGRAPHY; SIGNAL TRANSDUCTION; TREATMENT OUTCOME;

ADULT; AGED; AMINO ACID SUBSTITUTION; ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; BIOPSY; CODON; COLORECTAL NEOPLASMS; FEMALE; HUMANS; MOLECULAR TARGETED THERAPY; MUTATION; NEOPLASM GRADING; NEOPLASM METASTASIS; NEUROENDOCRINE TUMORS; POSITRON EMISSION TOMOGRAPHY COMPUTED TOMOGRAPHY; PROTEIN KINASE INHIBITORS; PROTO-ONCOGENE PROTEINS B-RAF; SIGNAL TRANSDUCTION; TREATMENT OUTCOME;

EID: 85011961061     PISSN: 21598274     EISSN: 21598290     Source Type: Journal    
DOI: 10.1158/2159-8290.CD-15-1192     Document Type: Article

References (28)

1. Lawrence B, Gustafsson BI, Chan A, Svejda B, Kidd M, Modlin IM. The epidemiology of gastroenteropancreatic neuroendocrine tumors. Endocrinol Metab Clin North Am 2011;40:1-18.
2. Brenner B, Tang LH, Klimstra DS, Kelsen DP. Small-cell carcinomas of the gastrointestinal tract: a review. J Clin Oncol 2004;22:2730-9.
3. Janson ET, Sorbye H, Welin S, Federspiel B, Gronbaek H, Hellman P, et al. N ordic guidelines 2014 for diagnosis and treatment of gastro- enteropancreatic neuroendocrine neoplasms. Acta Oncol 2014;53: 1284-97.
4. Fjallskog ML, Granberg DP, Welin SL, Eriksson C, Oberg KE, Janson ET, et al. Treatment with cisplatin and etoposide in patients with neuroendocrine tumors. Cancer 2001;92:1101-7.
5. Sorbye H, Welin S, Langer SW, Vestermark LW, Holt N, Osterlund P, et al. Predictive and prognostic factors for treatment and survival in 305 patients with advanced gastrointestinal neuroendocrine carcinoma (WHO G3): the NORDIC NEC study. Ann Oncol 2013;24: 152-60.
6. Sorbye H, Strosberg J, Baudin E, Klimstra DS, Yao JC. Gastroen- teropancreatic high-grade neuroendocrine carcinoma. Cancer 2014; 120:2814-23.
7. Jiao Y, Shi C, Edil BH, de Wilde RF, Klimstra DS, Maitra A, et al. DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors. Science 2011;331: 1199-203.
8. Sadanandam A, Wullschleger S, Lyssiotis CA, Grotzinger C, Barbi S, Bersani S, et al. A cross-species analysis in pancreatic neuroendocrine tumors reveals molecular subtypes with distinctive clinical, metastatic, developmental, and metabolic characteristics. Cancer Discov 2015;5:1296-313.
9. Missiaglia E, Dalai I, Barbi S, Beghelli S, Falconi M, della Peruta M, et al. P ancreatic endocrine tumors: expression profiling evidences a role for AKT-mTOR pathway. J Clin Oncol 2010;28:245-55.
10. Banck MS, Kanwar R, Kulkarni AA, Boora GK, Metge F, Kipp BR, et al. T he genomic landscape of small intestine neuroendocrine tumors. J Clin Invest 2013;123:2502-8.
11. Frampton GM, Fichtenholtz A, Otto GA, Wang K, Downing SR, He J, et al. Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing. Nat Biotechnol 2013;31:1023-31.
12. Kleist B, Kempa M, Novy M, Oberkanins C, Xu L, Li G, et al. Comparison of neuroendocrine differentiation and KRAS/NRAS/BRAF/ PIK3CA/TP53 mutation status in primary and metastatic colorectal cancer. Int J Clin Exp Pathol 2014;7:5927-39.
13. Olevian DC, Nikiforova MN, Chiosea S, Sun W, Bahary N, Kuan SF, et al. Colorectal poorly differentiated neuroendocrine carcinomas frequently exhibit BRAF mutations and are associated with poor overall survival. Hum Pathol 2016;49:124-34.
14. Cancer Genome Atlas Network. Comprehensive molecular characterization of human colon and rectal cancer. Nature 2012;487:330-7.
15. Sorich MJ, Wiese MD, Rowland A, Kichenadasse G, McKinnon RA, Karapetis CS. Extended RAS mutations and anti-EGFR monoclonal antibody survival benefit in metastatic colorectal cancer: a meta- analysis of randomized, controlled trials. Ann Oncol 2015;26:13-21.
16. Long GV, Stroyakovskiy D, Gogas H, Levchenko E, de Braud F, Larkin J, et al. Dabrafenib and trametinib versus dabrafenib and placebo for Val600 BRAF-mutant melanoma: a multicentre, double-blind, phase 3 randomised controlled trial. Lancet 2015;386:444-51.
17. Robert C, Karaszewska B, Schachter J, Rutkowski P, Mackiewicz A, Stroiakovski D, et al. Improved overall survival in melanoma with combined dabrafenib and trametinib. N Engl J Med 2015; 372: 30-9.
18. Hyman DM, Puzanov I, Subbiah V, Faris JE, Chau I, Blay JY, et al. Vemurafenib in multiple nonmelanoma cancers with BRAF V600 mutations. N Engl J Med 2015;373:726-36.
19. Corcoran RB, Ebi H, Turke AB, Coffee EM, Nishino M, Cogdill AP, et al. E GFR-mediated re-activation of MAPK signaling contributes to insensitivity of BRAF mutant colorectal cancers to RAF inhibition with vemurafenib. Cancer Discov 2012;2:227-35.
20. Prahallad A, Sun C, Huang S, Di Nicolantonio F, Salazar R, Zecchin D, et al. Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR. Nature 2012;483:100-3.
21. Lochhead P, Kuchiba A, Imamura Y, Liao X, Yamauchi M, Nishihara R, et al. Microsatellite instability and BRAF mutation testing in colorectal cancer prognostication. J Natl Cancer Inst 2013;105:1151-6.
22. Corcoran RB, Atreya CE, Falchook GS, Kwak EL, Ryan DP, Bendell JC, et al. Combined BRAF and MEK inhibition with dabrafenib and trametinib in BRAF V600-mutant colorectal cancer. J Clin Oncol 2015;33:4023-31.
23. Paik PK, Arcila ME, Fara M, Sima CS, Miller VA, Kris MG, et al. Clinical characteristics of patients with lung adenocarcinomas harboring BRAF mutations. J Clin Oncol 2011;29:2046-51.
24. Park JT, Johnson N, Liu S, Levesque M, Wang YJ, Ho H, et al. Differential in vivo tumorigenicity of diverse KRAS mutations in vertebrate pancreas: a comprehensive survey. Oncogene 2015;34:2801-6.
25. Kopetz S, Desai J, Chan E, Hecht JR, O’Dwyer PJ, Maru D, et al. Phase II pilot study of vemurafenib in patients with metastatic BRAF- mutated colorectal cancer. J Clin Oncol 2015;33:4032-8.
26. Hyman DM, Diamond EL, Vibat CR, Hassaine L, Poole JC, Patel M, et al. Prospective blinded study of BRAFV600E mutation detection in cell-free DNA of patients with systemic histiocytic disorders. Cancer Discov 2015;5:64-71.
27. Ahronian LG, Sennott EM, Van Allen EM, Wagle N, Kwak EL, Faris JE, et al. Clinical acquired resistance to RAF inhibitor combinations in BRAF-mutant colorectal cancer through MAPK pathway alterations. Cancer Discov 2015;5:358-67.
28. Janku F, Vibat CR, Kosco K, Holley VR, Cabrilo G, Meric-Bernstam F, et al. BRAF V600E mutations in urine and plasma cell-free DNA from patients with Erdheim-Chester disease. Oncotarget 2014; 5: 3607-10.