Melanoma: Advances in Targeted Therapy and Molecular Markers

Annals of Surgical Oncology

Volumn 22, Issue 11, 2015, Pages 3451-3458

  DePeralta, Danielle K ^a   Boland, Genevieve M ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTINEOPLASTIC AGENT; B RAF KINASE; B RAF KINASE INHIBITOR; BINIMETINIB; DABRAFENIB; DACARBAZINE; EVEROLIMUS; IMATINIB; IMMUNOMODULATING AGENT; INTERFERON; IPILIMUMAB; KIT PROTEIN TYROSINE KINASE; MAMMALIAN TARGET OF RAPAMYCIN; MITOGEN ACTIVATED PROTEIN KINASE; N RAS PROTEIN; NEUROFIBROMIN; NIVOLUMAB; PEMBROLIZUMAB; PHOSPHATIDYLINOSITOL 3 KINASE; PROTEIN; PROTEIN P53; PROTEIN TYROSINE KINASE; RIBOCICLIB; SORAFENIB; TRAMELIMUMAB; TRAMETINIB; UNCLASSIFIED DRUG; VALINE; VEMURAFENIB; BRAF PROTEIN, HUMAN;

ADVANCED CANCER; APOPTOSIS; ARTICLE; CANCER COMBINATION CHEMOTHERAPY; CANCER CONTROL; CANCER IMMUNOTHERAPY; CANCER PROGNOSIS; CANCER RESISTANCE; CANCER RISK; CANCER STAGING; CANCER THERAPY; CELL PROLIFERATION; CLINICAL PRACTICE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GERMLINE MUTATION; HIGH RISK PATIENT; HUMAN; IMMUNE SYSTEM; MELANOMA; METASTASIS; MINIMAL RESIDUAL DISEASE; MOLECULARLY TARGETED THERAPY; NONHUMAN; PATIENT CARE; POINT MUTATION; PROTEIN EXPRESSION; SIGNAL TRANSDUCTION; SOMATIC MUTATION; SURGEON; TREATMENT RESPONSE; WILD TYPE; ANTAGONISTS AND INHIBITORS; GENETICS; IMMUNOTHERAPY;

GERM-LINE MUTATION; HUMANS; IMMUNOTHERAPY; MAP KINASE SIGNALING SYSTEM; MELANOMA; MOLECULAR TARGETED THERAPY; PROTO-ONCOGENE PROTEINS B-RAF;

EID: 84941422772     PISSN: 10689265     EISSN: 15344681     Source Type: Journal    
DOI: 10.1245/s10434-015-4702-1     Document Type: Article

References (70)

1. Sidransky D. Emerging molecular markers of cancer. Nat Rev Cancer. 2002;2:210–9.
2. Tsao H, Chin L, Garraway LA, et al. Melanoma: from mutations to medicine. Gene Dev. 2012;26:1131–55.
3. Ward KA, Lazovich D, Hordinsky MK, et al. Germline melanoma susceptibility and prognostic genes: a review of the literature. J Am Acad Derm. 2012;67:1055–67.
4. Yeh I, Bastian BC. Genome-wide associations; studies for melanoma and nevi. Pigment Cell Melanoma Res. 2009;22:527–8.
5. Robinson S, Dixon S, Augus S, et al. Protection against UVR involved MC1R-mediated non-pigmentary and pigmentary mechanisms in vivo. J Invest Dermatol. 2010;130:1904–13.
6. Goldstein A, Chan M, Harland M, et al. Features associated with germline CDK2NA mutations: a GenoMEL study of melanoma-prone families from three continents. J Med Genet. 2007;22:99–106.
7. Gabree M, Patel D, Rodgers L. Clinical applications of melanoma genetics, 2014. Curr Treat Options Oncol. 2014;15:336–50.
8. Berger MF, Hodis E, Heffernan TP, et al. Melanoma genome sequencing reveals frequent PREX2 mutations. Nature. 2012;485:502–6.
9. Hodis FS, Watson IR, Kryukov, et al. A landscape of driver mutations in melanoma. Cell. 2013;150:251–63.
10. Krauthammer M, Kong Y, Ha BH, et al. Exome sequencing identifies recurrent somatic RA1 mutations in melanoma. Nat Genet. 2012;44:1004–14.
11. Hawryluk EB, Tsao H. Melanoma: clinical features and genomic insights. Cold Spring Harb Perspect Med. 2014;4:a015388.
12. Wilson MA, Nathanson KL. Molecular testing in melanoma. Cancer J. 2012;18:117–23.
13. Hurst CD, Zuiverloon TC, Hafner C, et al. A SNaPshot assay for the rapid and simple detection of four common hotspot codon mutations in the PIK3CA gene. BMC Res Notes. 2009;2:66.
14. Ross JS, Cronin M. Whole cancer genome sequencing by next-generation methods. Am J Clin Pathol. 2011;136:527–39.
15. Boland GM, Meric‐Bernstam F (2015). The role of surgeons in building a personalized medicine program. J Surg Oncol.111(1), 3–8.
16. Meric-Bernstam F Frahangfar C, Mendelsohn J, et al. Building a personalized medicine infrastructure at a major cancer center. J Clin Oncol. 2013;31:1849–57.
17. Davies H, Bignell GR, Cox C, et al. Mutations of the BRAF gene in human cancer. Nature. 2002;417:949–54.
18. Gray-Schopfer V, Wellbrook C, Marsais R. Melanoma biology and new targeted therapy. Nature. 2007;445:851–7.
19. Siroy AE, Boland GM, Milton DR, et al. (2015). Beyond BRAFV600: clinical mutation panel testing by next-generation sequencing in advanced melanoma. J Invest Dermatol. 135(2), 508–515.
20. Hauschild A, Grob JJ, Demidov LV, et al. Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre open-label, phase-3 randomised controlled trial. Lancet. 2012;380:358–65.
21. Chapman PB, Hauschild A, Robert C, et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med. 2011;364:2507–16.
22. Sosman JA, Kim KB, Schuchter L, et al. Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib. N Engl J Med. 2012;366:707–14.
23. Rubinstein JC, Sznol M, Pavlick AC, et al. Incidence of the V600 K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032. J Transl Med. 2010;8:67.
24. McArthur GA, Chapman PB, Robert C, et al. safety and efficacy of vemurafenib in BRAFV600E and BRAF V600 K mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study. Lancet Oncol. 2014;15:323–32.
25. Falchook GS, Long GV, Kurzrock R, et al. Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumors: a phase 1 dose escalation trial. Lancet. 2012;379:1893–901.
26. Long GV, Trefzer U, Davies MA, et al. Dabrafenib in patients with Val600Glu or Val600Lys BRAF-mutant melanoma metastatic to the brain (BREAK-MB): a multicenter open-label, phase 2 trial. Lancet Oncol. 2012;13:1087–95.
27. Bucheit AD, Syklawer E, Jakob JA, et al. Clinical characteristics and outcomes with specific BRAF and NRAS mutations in patients with metastatic melanoma. Cancer. 2013;119:3821–9.
28. Menzies AM, Haydu LE, Visintin L, et al. Distinguishing clinicopathologic features of patients with V600E and V600 K BRAF-mutant metastatic melanoma. Clin Cancer Res. 2012;18:3242–9.
29. Fedorenko IV, Paraiso KH, Smalley KS. Acquired and intrinsic BRAF inhibitor resistance in BRAF V600E mutant melanoma. Biochem Pharmacol. 2011;82:201–9.
30. Flaherty KT, Robert C, Hersey, P, et al. Improved survival with MEK inhibition in BRAF-mutated melanoma. N Engl J Med. 2012;367:107–14.
31. Robert C, Karaszewska B, Schachter J, et al. Improved survival in melanoma with combined dabrafenib and trametinib. N Engl J Med. 2015;372:30−9. doi:10.1056/NEJMoa1412690.
32. Long GV, Stroyakovsky D, Gogas H, et al. Combined BRAF and MEK inhibition versus BRAF alone in melanoma. N Engl J Med. 2014;371:1877–88.
33. Ribas A, Gonzalez R, Pavlick A, et al. (2014). Combination of vemurafenib and cobimetinib in patients with advanced BRAF V600-mutated melanoma: a phase 1b study. Lancet Oncol. 15(9), 954-965.
34. Devitt B, Liu W, Salemi R, et al. Clinical outcome and pathological features associated with NRAS mutation in cutaneous melanoma. Pigment Cell Melanoma Res. 2011;24:666–72.
35. Goel VK, Lazaar AJ, Warneke CL, et al. Examination of mutations in BRAF, NRAS, and PTEN in primary cutaneous melanoma. J Invest Dermatol. 2006;126:154–60.
36. Ascierto PA, Schadendorf D, Berking C, et al. MEK162 for patients with advanced melanoma harbouring NRAS or Val600BRAF mutations: a non-randomised, open-label phase 2 study. Lancet Oncol. 2013;14:249–56.
37. Kwong LN, Costello JC, Liu H, et al. Oncogenic NRAS signaling differentially regulates survival and proliferation in melanoma. Nat Med. 2012;18:1503–10.
38. Sosman JA, Kittaneh M, Lolkema MPJK, et al. A phase 1b/2 study of LEE011 in combination with binimetinib (MEK 162) in patients with NRAS-mutant melanoma: early encouraging clinical activity (abstract). J Clin Oncol. 2014;32(5 suppl):9009.
39. Cancer Genome Atlas. http://www.cancergenome.nih.gov.
40. Maertens O, Johnson B, Hollstein P, et al. Elucidating distinct roles for NF1 in melanomagenesis. Cancer Discov. 2013;3:338–49.
41. Nissan MH, Pratilas CA, Jones AM, et al. Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence. Cancer Res. 2014;74:2340–50.
42. Stahl JM, Sharma A, Cheung M, et al. Deregulated Akt3 activity promotes development of malignant melanoma. Cancer Res. 2004;64:7002–10.
43. Birck A, Ahrenkiel V, Zeuthen J, et al. Mutation and allelic loss of PTEN/MMAC1 gene in primary and metastatic melanoma biopsies. J Invest Dermatol. 2000;114:277–80.
44. Kwong LN, Davies MA. Navigating the therapeutic complexity of PI3K inhibition in melanoma. Clin Cancer Res. 2013;19:5310–9.
45. Sanchez-Hernandez I, Baquero P, Calleros L, et al. Dual inhibition of v600BRAF and PI3K/AKT/mTOR pathway cooperates to induce apoptosis in melanoma cells through a MEK independent mechanism. Cancer Lett. 2012;314:244–55.
46. Margolin KA, Moon J, Flaherty LE, Lao CD, Akerley WL, Othus M, et al. (2012). Randomized phase II trial of sorafenib with temsirolimus or tipifarnib in untreated metastatic melanoma (S0438). Clin Cancer Res.18(4), 1129–1137.
47. Dronca RS, Allred JB, Perez DG, et al. Phase II study of temozolomide and everolimus therapy for metastatic melanoma: a North Central Cancer Treatment Group study, NO675. Am J Clin Oncol. 2014;37(4):369–76.
48. Curtin JA, Busam KJ, Francone TD, et al. Somatic activation of KIT in distinct subtypes of melanoma. J Clin Oncol. 2006;24:4340–6.
49. Woodman SE, Davies MA. Targeting KIT in melanoma: a paradigm of molecular medicine and targeted therapeutics. Biochem Pharmacol. 2010;80:568–74.
50. Lutzky J, Bauer J, Bastian BC, et al. Dose-dependent, complete response to imatinib of a metastatic mucosal melanoma with a K642E KIT mutation. Pigment Cell Melanoma Res. 2008;21:492–3.
51. Quintas-Cardama A, Lazar AJ, Woodman SE, et al. Complete response of stage IV anal mucosal melanoma expressing KIT Val560Asp to the multikinase inhibitor sorafenib. Nat Clin Pract Oncol. 2008;5:737–40.
52. Viros A, Sanchez-Laorden B, Pedersen M, et al. Ultraviolet radiation accelerates BRAF-driven melanomagenesis by targeting TP53. Nature. 2014;511:478–82.
53. Essner R, Kuo CT, Wang H, et al. Prognostic implications of p53 overexpression in cutaneous melanoma from sun-exposed and nonexposed sites. Cancer. 1998;82:309–16.
54. Hoffman TK, Sonkoly E, Hauser U, et al. Alterations in the p53 pathway and their association with radio- and chemosensitivity in head and neck squamous cell carcinoma. Oral Oncol. 2008;44:1100–9.
55. Poeta ML, Manola J, Goldwasser MA, et al. TP53 mutations and survival in squamous-cell carcinoma of the head and neck. N Engl J Med. 2007;357:2552–61.
56. Kerkar SP, Restifo NP. Cellular constituents of immune escape within the tumor micro-environment. Cancer Res. 2012;72:3125–30.
57. Hodi FS, O’Day SJ, McDermott DF, et al. Improved survival with ipilimumab in patients with metastatic melanoma. N Engl J Med. 2010;363:711–23.
58. Wolchock JD, Kluger H, Callahan MK, et al. Nivolumab plus ipilimumab in advanced melanoma. N Engl J Med. 2013;369:122–33.
59. Robert C, Long GV, Brady B, et al. Nivolumab in previously untreated melanoma without BRAF mutation. N Engl J Med. 2015;372:320–30.
60. Snyder A, Makaroc V, Merghoub T, et al. Genetic basis for clinical response to CTLA-4 blockade in melanoma. N Engl J Med. 2014;371:2189–99.
61. Hu-Lieskovan S, Robert L, Moreno BH, et al. Combining targeted therapy with immunotherapy in BRAF-mutant melanoma: promise and challenges. J Clin Oncol. 2014;32(21):2248–54.
62. Ribas A, Hodi F, Callahan M, et al. Hepatotoxicity with combination of vemurafenib and ipilimumab. N Engl J Med. 2013;368:1365–6.
63. Puzanov I, Callahan MK, Linette GP, et al. Phase 1 study of BRAF inhibitor dabrafenib with or without the MEK inhibitor trametinib in combination with ipilimumab for V600E/K mutation-positive unresectable or metastatic melanoma (abstract). J Clin Oncol. 2014;32(5 suppl):2511.
64. Massachusetts General Hospital Cancer Center. 2013. http://www.massgeneral.org/cancer/TrialDetails.aspx?p13-606&diseaseMelanoma&nctNCT02027961.
65. Menzies AM, Long GV. Recent advances in melanoma systemic therapy. BRAF inhibitors, CTLA4 antibodies and beyond. Eur J Cancer. 2013;49:3229–41.
66. Balch CM, Gershenwald JE, Soong SJ, et al. Final version of 2009 AJCC melanoma staging and classification. J Clin Oncol. 2009;27:6199–206.
67. Eggermont AM, Chiaron-Sileni, V, Grob JJ, et al. Ipilimumab versus placebo after complete resection of stage III melanoma: initial efficacy and safety results from the EORTC 18071 phase III trial (abstract). J Clin Oncol. 2014;32(5 suppl). http://meetinglibrary.asco.org/print/1738628.
68. Hsueh EC, Morton DL. Antigen-based immunotherapy of melanoma: canvaxin therapeutic polyvalent cancer vaccine. Semin Cancer Biol. 2003;13:401–7.
69. Morton DL, Mozzillo N, Thompson JF, et al. An international, randomized, phase III trial of bacillus Calmette-Guerin plus allogeneic melanoma vaccine (MCV) or placebo after complete resection of melanoma metastatic to regional or distant sites. J Clin Oncol. 2007;25:8508.
70. Dannul J, Haley NR, Archer G, et al. Melanoma immunotherapy using mature DCs expressing the constitutive proteasome. J Clin Invest. 2013;123:3135–45.