Clinical detection and categorization of uncommon and concomitant mutations involving BRAF

BMC Cancer

Volumn 15, Issue 1, 2015, Pages

  Zheng, Gang ^a   Tseng, Li Hui ^a,b   Chen, Guoli ^c   Haley, Lisa ^a   Illei, Peter ^a   Gocke, Christopher D ^a   Eshleman, James R ^a   Lin, Ming Tseh ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^c PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

Author keywords

BRAF; Colorectal cancer; Concomitant mutation; Kinase activity; Lung cancer; Melanoma; Next generation sequencing

Indexed keywords

PHOSPHOTRANSFERASE; PROTEIN SERINE THREONINE KINASE; B RAF KINASE;

ADULT; AGED; ARTICLE; BRAF GENE; COLORECTAL CANCER; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GENE FREQUENCY; GENE INTERACTION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; LIMIT OF DETECTION; LUNG CANCER; MAJOR CLINICAL STUDY; MALE; MELANOMA; NEXT GENERATION SEQUENCING; ONCOGENE; ONCOGENE N RAS; PROTEIN PHOSPHORYLATION; SEQUENCE ALIGNMENT; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; COLORECTAL TUMOR; ENZYMOLOGY; GENETICS; HIGH THROUGHPUT SEQUENCING; LUNG TUMOR; METABOLISM; MIDDLE AGED; MUTATION; VERY ELDERLY;

ADULT; AGED; AGED, 80 AND OVER; COLORECTAL NEOPLASMS; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; LUNG NEOPLASMS; MALE; MELANOMA; MIDDLE AGED; MUTATION; PHOSPHOTRANSFERASES; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS B-RAF;

EID: 84945120153     PISSN: None     EISSN: 14712407     Source Type: Journal    
DOI: 10.1186/s12885-015-1811-y     Document Type: Article

References (44)

1. Young A, Lyons J, Miller AL, Phan VT, Alarcon IR, McCormick F. Ras signaling and therapies. Adv Cancer Res. 2009;102:1-17.
2. Lyle M, Long GV. The role of systemic therapies in the management of melanoma brain metastases. Curr Opin Oncol. 2014;26(2):222-9.
3. Grimaldi AM, Simeone E, Ascierto PA. The role of MEK inhibitors in the treatment of metastatic melanoma. Curr Opin Oncol. 2014;26(2):196-203.
4. Sosman JA, Kim KB, Schuchter L, Gonzalez R, Pavlick AC, Weber JS, et al. Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib. N Engl J Med. 2012;366(8):707-14.
5. Hauschild A, Grob JJ, Demidov LV, Jouary T, Gutzmer R, Millward M, et al. Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial. Lancet. 2012;380(9839):358-65.
6. Flaherty KT, Robert C, Hersey P, Nathan P, Garbe C, Milhem M, et al. Improved survival with MEK inhibition in BRAF-mutated melanoma. N Engl J Med. 2012;367(2):107-14.
7. Falchook GS, Lewis KD, Infante JR, Gordon MS, Vogelzang NJ, DeMarini DJ, et al. Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial. Lancet Oncol. 2012;13(8):782-9.
8. Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, et al. Mutations of the BRAF gene in human cancer. Nature. 2002;417(6892):949-54.
9. Rajagopalan H, Bardelli A, Lengauer C, Kinzler KW, Vogelstein B, Velculescu VE. Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. Nature. 2002;418(6901):934.
10. Wellbrock C, Karasarides M, Marais R. The RAF proteins take centre stage. Nat Rev Mol Cell Biol. 2004;5(11):875-85.
11. Sen B, Peng S, Tang X, Erickson HS, Galindo H, Mazumdar T, et al. Kinase-impaired BRAF mutations in lung cancer confer sensitivity to dasatinib. Sci Transl Med. 2012;4(136):136ra70.
12. Carter J, Tseng LH, Zheng G, Dudley J, Illei P, Gocke CD, et al. Non-p.V600E BRAF mutations are common using a more sensitive and broad detection tool. Am J Clin Pathol. 2015;144(4):620-8.
13. Wan PT, Garnett MJ, Roe SM, Lee S, Niculescu-Duvaz D, Good VM, et al. Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. Cell. 2004;116(6):855-67.
14. Garnett MJ, Rana S, Paterson H, Barford D, Marais R. Wild-type and mutant B-RAF activate C-RAF through distinct mechanisms involving heterodimerization. Mol Cell. 2005;20(6):963-9.
15. Houben R, Becker JC, Kappel A, Terheyden P, Brocker EB, Goetz R, et al. Constitutive activation of the Ras-Raf signaling pathway in metastatic melanoma is associated with poor prognosis. J Carcinog. 2004;3(1):6.
16. Ikenoue T, Hikiba Y, Kanai F, Tanaka Y, Imamura J, Imamura T, et al. Functional analysis of mutations within the kinase activation segment of B-Raf in human colorectal tumors. Cancer Res. 2003;63(23):8132-7.
17. Zhang BH, Guan KL. Activation of B-Raf kinase requires phosphorylation of the conserved residues Thr598 and Ser601. EMBO J. 2000;19(20):5429-39.
18. Santarpia L, Sherman SI, Marabotti A, Clayman GL, El-Naggar AK. Detection and molecular characterization of a novel BRAF activated domain mutation in follicular variant of papillary thyroid carcinoma. Hum Pathol. 2009;40(6):827-33.
19. Dahlman KB, Xia J, Hutchinson K, Ng C, Hucks D, Jia P, et al. BRAF(L597) mutations in melanoma are associated with sensitivity to MEK inhibitors. Cancer Discov. 2012;2(9):791-7.
20. Bahadoran P, Allegra M, Le Duff F, Long-Mira E, Hofman P, Giacchero D, et al. Major clinical response to a BRAF inhibitor in a patient with a BRAF L597R-mutated melanoma. J Clin Oncol. 2013;31(19):e324-6.
21. Smalley KS, Xiao M, Villanueva J, Nguyen TK, Flaherty KT, Letrero R, et al. CRAF inhibition induces apoptosis in melanoma cells with non-V600E BRAF mutations. Oncogene. 2009;28(1):85-94.
22. Heidorn SJ, Milagre C, Whittaker S, Nourry A, Niculescu-Duvas I, Dhomen N, et al. Kinase-dead BRAF and oncogenic RAS cooperate to drive tumor progression through CRAF. Cell. 2010;140(2):209-21.
23. Lin MT, Tseng LH, Rich RG, Hafez MJ, Harada S, Murphy KM, et al. Delta-PCR, A Simple Method to Detect Translocations and Insertion/Deletion Mutations. J Mol Diagn. 2011;13(1):85-92.
24. Lin MT, Mosier SL, Thiess M, Beierl KF, Debeljak M, Tseng LH, et al. Clinical validation of KRAS, BRAF, and EGFR mutation detection using next-generation sequencing. Am J Clin Pathol. 2014;141(6):856-66.
25. Haley L, Tseng LH, Zheng G, Dudley J, Anderson DA, Azad NS, et al. Performance characteristics of next-generation sequencing in clinical mutation detection of colorectal cancers. Mod Pathol. 2015;28(10):1390-9.
26. Dudley JC, Gurda GT, Tseng LH, Anderson DA, Chen G, Taube JM, et al. Tumor cellularity as a quality assurance measure for accurate clinical detection of BRAF mutations in melanoma. Mol Diagn Ther. 2014;18(4):409-18.
27. Chapman PB, Hauschild A, Robert C, Haanen JB, Ascierto P, Larkin J, et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med. 2011;364(26):2507-16.
28. Klein O, Clements A, Menzies AM, O'Toole S, Kefford RF, Long GV. BRAF inhibitor activity in V600R metastatic melanoma. Eur J Cancer. 2013;49(5):1073-9.
29. McArthur GA, Chapman PB, Robert C, Larkin J, Haanen JB, Dummer R, et al. Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study. Lancet Oncol. 2014;15(3):323-32.
30. Gautschi O, Pauli C, Strobel K, Hirschmann A, Printzen G, Aebi S, et al. A patient with BRAF V600E lung adenocarcinoma responding to vemurafenib. J Thorac Oncol. 2012;7(10):e23-4.
31. Peters S, Michielin O, Zimmermann S. Dramatic response induced by vemurafenib in a BRAF V600E-mutated lung adenocarcinoma. J Clin Oncol. 2013;31(20):e341-4.
32. Rudin CM, Hong K, Streit M. Molecular characterization of acquired resistance to the BRAF inhibitor dabrafenib in a patient with BRAF-mutant non-small-cell lung cancer. J Thorac Oncol. 2013;8(5):e41-2.
33. Robinson SD, O'Shaughnessy JA, Cowey CL, Konduri K. BRAF V600E-mutated lung adenocarcinoma with metastases to the brain responding to treatment with vemurafenib. Lung Cancer. 2014;85(2):326-30.
34. Morris V, Kopetz S. BRAF inhibitors in clinical oncology. F1000Prime Rep. 2013;5:11.
35. Kim KB, Kefford R, Pavlick AC, Infante JR, Ribas A, Sosman JA, et al. Phase II study of the MEK1/MEK2 inhibitor Trametinib in patients with metastatic BRAF-mutant cutaneous melanoma previously treated with or without a BRAF inhibitor. J Clin Oncol. 2013;31(4):482-9.
36. Bowyer SE, Rao AD, Lyle M, Sandhu S, Long GV, McArthur GA, et al. Activity of trametinib in K601E and L597Q BRAF mutation-positive metastatic melanoma. Melanoma Res. 2014;24(5):504-8.
37. Jones S, Chen WD, Parmigiani G, Diehl F, Beerenwinkel N, Antal T, et al. Comparative lesion sequencing provides insights into tumor evolution. Proc Natl Acad Sci U S A. 2008;105(11):4283-8.
38. Trejo CL, Green S, Marsh V, Collisson EA, Iezza G, Phillips WA, et al. Mutationally activated PIK3CA(H1047R) cooperates with BRAF(V600E) to promote lung cancer progression. Cancer Res. 2013;73(21):6448-61.
39. Chaft JE, Arcila ME, Paik PK, Lau C, Riely GJ, Pietanza MC, et al. Coexistence of PIK3CA and other oncogene mutations in lung adenocarcinoma-rationale for comprehensive mutation profiling. Mol Cancer Ther. 2012;11(2):485-91.
40. Kim MS, Jeong EG, Yoo NJ, Lee SH. Mutational analysis of oncogenic AKT E17K mutation in common solid cancers and acute leukaemias. Br J Cancer. 2008;98(9):1533-5.
41. Bleeker FE, Felicioni L, Buttitta F, Lamba S, Cardone L, Rodolfo M, et al. AKT1(E17K) in human solid tumours. Oncogene. 2008;27(42):5648-50.
42. Malanga D, Scrima M, De Marco C, Fabiani F, De Rosa N, De Gisi S, et al. Activating E17K mutation in the gene encoding the protein kinase AKT1 in a subset of squamous cell carcinoma of the lung. Cell Cycle. 2008;7(5):665-9.
43. Do H, Solomon B, Mitchell PL, Fox SB, Dobrovic A. Detection of the transforming AKT1 mutation E17K in non-small cell lung cancer by high resolution melting. BMC Res Notes. 2008;1:14.
44. Engelman JA, Chen L, Tan X, Crosby K, Guimaraes AR, Upadhyay R, et al. Effective use of PI3K and MEK inhibitors to treat mutant Kras G12D and PIK3CA H1047R murine lung cancers. Nat Med. 2008;14(12):1351-6.