Molecular testing in malignant melanoma

Diagnostic Cytopathology

Volumn 40, Issue 6, 2012, Pages 503-510

  Grossmann, Allie H ^a,b   Grossmann, Kenneth F ^b   Wallander, Michelle L ^c  

^a ARUP LABORATORIES   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

Author keywords

BRAF; KIT; melanoma; mutation testing

Indexed keywords

B RAF KINASE INHIBITOR; DABRAFENIB; EPIDERMAL GROWTH FACTOR RECEPTOR 4; IMATINIB; MITOGEN ACTIVATED PROTEIN KINASE; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; STEM CELL FACTOR RECEPTOR; VEMURAFENIB;

ACRAL LENTIGINOUS MELANOMA; ASPIRATION BIOPSY; CANCER DIAGNOSIS; CANCER RISK; CANCER STAGING; CANCER SURVIVAL; CONFERENCE PAPER; DRUG APPROVAL; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; INTRACELLULAR SIGNALING; MELANOMA; MOLECULAR DIAGNOSIS; MUCOSAL MELANOMA; MUTATIONAL ANALYSIS; OVERALL SURVIVAL; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROGRESSION FREE SURVIVAL; SKIN CARCINOMA; TREATMENT RESPONSE;

DNA MUTATIONAL ANALYSIS; EARLY DETECTION OF CANCER; HUMANS; MELANOMA; MUTATION; PATHOLOGY, MOLECULAR; PHOSPHATIDYLINOSITOL 3-KINASES; PROTO-ONCOGENE PROTEINS B-RAF; PROTO-ONCOGENE PROTEINS C-KIT; RECEPTOR, EPIDERMAL GROWTH FACTOR; SIGNAL TRANSDUCTION; SKIN NEOPLASMS;

EID: 84861541891     PISSN: 87551039     EISSN: 10970339     Source Type: Journal    
DOI: 10.1002/dc.22810     Document Type: Conference Paper

References (73)

1. Yee VS, Thompson JF, McKinnon JG, et al. Outcome in 846 cutaneous melanoma patients from a single center after a negative sentinel node biopsy. Ann Surg Oncol 2005; 12: 429-439.
2. Surveillance epidemiology and end results. Melanoma. National Cancer Institute. Available at:.
3. Leong SP, Gershenwald JE, Soong SJ, et al. Cutaneous melanoma: A model to study cancer metastasis. J Surg Oncol 2011; 103: 538-549.
4. Tsao H, Atkins MB, Sober AJ,. Management of cutaneous melanoma. N Engl J Med 2004; 351: 998-1012.
5. Atkins MB, Kunkel L, Sznol M, Rosenberg SA,. High-dose recombinant interleukin-2 therapy in patients with metastatic melanoma: Long-term survival update. Cancer J Sci Am 2000; 6 (Suppl 1): S11-S14.
6. Phan GQ, Attia P, Steinberg SM, White DE, Rosenberg SA,. Factors associated with response to high-dose interleukin-2 in patients with metastatic melanoma. J Clin Oncol 2001; 19: 3477-3482.
7. Hodi FS, O'Day SJ, McDermott DF, et al. Improved survival with ipilimumab in patients with metastatic melanoma. N Engl J Med 2010; 363: 711-723.
8. Ribas A, Flaherty KT,. BRAF targeted therapy changes the treatment paradigm in melanoma. Nat Rev Clin Oncol 2011; 8: 426-433.
9. Davies MA, Gershenwald JE,. Targeted therapy for melanoma: A primer. Surg Oncol Clin N Am 2011; 20: 165-180.
10. Woodman SE, Davies MA,. Targeting KIT in melanoma: A paradigm of molecular medicine and targeted therapeutics. Biochem Pharmacol 2010; 80: 568-574.
11. Davies H, Bignell GR, Cox C, et al. Mutations of the BRAF gene in human cancer. Nature 2002; 417: 949-954.
12. Hocker T, Tsao H,. Ultraviolet radiation and melanoma: A systematic review and analysis of reported sequence variants. Hum Mutat 2007; 28: 578-588.
13. Pollock PM, Harper UL, Hansen KS, et al. High frequency of BRAF mutations in nevi. Nat Genet 2003; 33: 19-20.
14. Poynter JN, Elder JT, Fullen DR, et al. BRAF and NRAS mutations in melanoma and melanocytic nevi. Melanoma Res 2006; 16: 267-273.
15. Flaherty KT, Puzanov I, Kim KB, et al. Inhibition of mutated, activated BRAF in metastatic melanoma. N Engl J Med 2010; 363: 809-819.
16. Chapman PB, Hauschild A, Robert C, et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med 2011; 364: 2507-2516.
17. Kefford R, Brown HAMP, Millward M, et al. Phase I/II study of GSK2118436, a selective inhibitor of oncogenic mutant BRAF kinase, in patients with metastatic melanoma and other solid tumors. J Clin Oncol 2010; 28:8503.
18. Curtin JA, Fridlyand J, Kageshita T, et al. Distinct sets of genetic alterations in melanoma. N Engl J Med 2005; 353: 2135-2147.
19. Pleasance ED, Cheetham RK, Stephens PJ, et al. A comprehensive catalogue of somatic mutations from a human cancer genome. Nature 2010; 463: 191-196.
20. Prickett TD, Agrawal NS, Wei X, et al. Analysis of the tyrosine kinome in melanoma reveals recurrent mutations in ERBB4. Nat Genet 2009; 41: 1127-1132.
21. Nazarian R, Shi H, Wang Q, et al. Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation. Nature 2010; 468: 973-977.
22. Villanueva J, Vultur A, Lee JT, et al. Acquired resistance to BRAF inhibitors mediated by a RAF kinase switch in melanoma can be overcome by cotargeting MEK and IGF-1R/PI3K. Cancer Cell 2010; 18: 683-695.
23. Montagut C, Sharma SV, Shioda T, et al. Elevated CRAF as a potential mechanism of acquired resistance to BRAF inhibition in melanoma. Cancer Res 2008; 68: 4853-4861.
24. Johannessen CM, Boehm JS, Kim SY, et al. COT drives resistance to RAF inhibition through MAP kinase pathway reactivation. Nature 2010; 468: 968-972.
25. Wagle N, Emery C, Berger MF, et al. Dissecting therapeutic resistance to RAF inhibition in melanoma by tumor genomic profiling. J Clin Oncol 2011; 29: 3085-3096.
26. Paraiso KH, Fedorenko IV, Cantini LP, et al. Recovery of phospho-ERK activity allows melanoma cells to escape from BRAF inhibitor therapy. Br J Cancer 2010; 102: 1724-1730.
27. Shi H, Kong X, Ribas A, Lo RS,. Combinatorial treatments that overcome PDGFRbeta-driven resistance of melanoma cells to V600EB-RAF inhibition. Cancer Res 2011; 71: 5067-5074.
28. Edlundh-Rose E, Egyhazi S, Omholt K, et al. NRAS and BRAF mutations in melanoma tumours in relation to clinical characteristics: A study based on mutation screening by pyrosequencing. Melanoma Res 2006; 16: 471-478.
29. Omholt K, Platz A, Kanter L, Ringborg U, Hansson J,. NRAS and BRAF mutations arise early during melanoma pathogenesis and are preserved throughout tumor progression. Clin Cancer Res 2003; 9: 6483-6488.
30. Tsao H, Goel V, Wu H, Yang G, Haluska FG,. Genetic interaction between NRAS and BRAF mutations and PTEN/MMAC1 inactivation in melanoma. J Invest Dermatol 2004; 122: 337-341.
31. Greene VR, Johnson MM, Grimm EA, Ellerhorst JA,. Frequencies of NRAS and BRAF mutations increase from the radial to the vertical growth phase in cutaneous melanoma. J Invest Dermatol 2009; 129: 1483-1488.
32. Omholt K, Krockel D, Ringborg U, Hansson J,. Mutations of PIK3CA are rare in cutaneous melanoma. Melanoma Res 2006; 16: 197-200.
33. Curtin JA, Stark MS, Pinkel D, Hayward NK, Bastian BC,. PI3-kinase subunits are infrequent somatic targets in melanoma. J Invest Dermatol 2006; 126: 1660-1663.
34. Carpten JD, Faber AL, Horn C, et al. A transforming mutation in the pleckstrin homology domain of AKT1 in cancer. Nature 2007; 448: 439-444.
35. Davies MA, Stemke-Hale K, Tellez C, et al. A novel AKT3 mutation in melanoma tumours and cell lines. Br J Cancer 2008; 99: 1265-1268.
36. Mirmohammadsadegh A, Marini A, Nambiar S, et al. Epigenetic silencing of the PTEN gene in melanoma. Cancer Res 2006; 66: 6546-6552.
37. Wu H, Goel V, Haluska FG,. PTEN signaling pathways in melanoma. Oncogene 2003; 22: 3113-3122.
38. Zhou XP, Gimm O, Hampel H, Niemann T, Walker MJ, Eng C,. Epigenetic PTEN silencing in malignant melanomas without PTEN mutation. Am J Pathol 2000; 157: 1123-1128.
39. Courtney KD, Corcoran RB, Engelman JA,. The PI3K pathway as drug target in human cancer. J Clin Oncol 2010; 28: 1075-1083.
40. Shen WH, Balajee AS, Wang J, et al. Essential role for nuclear PTEN in maintaining chromosomal integrity. Cell 2007; 128: 157-170.
41. Heidorn SJ, Milagre C, Whittaker S, et al. Kinase-dead BRAF and oncogenic RAS cooperate to drive tumor progression through CRAF. Cell 2010; 140: 209-221.
42. Halaban R, Zhang W, Bacchiocchi A, et al. PLX4032, a selective BRAF(V600E) kinase inhibitor, activates the ERK pathway and enhances cell migration and proliferation of BRAF melanoma cells. Pigment Cell Melanoma Res 2010; 23: 190-200.
43. Poulikakos PI, Zhang C, Bollag G, Shokat KM, Rosen N,. RAF inhibitors transactivate RAF dimers and ERK signalling in cells with wild-type BRAF. Nature 2010; 464: 427-430.
44. Maldonado JL, Fridlyand J, Patel H, et al. Determinants of BRAF mutations in primary melanomas. J Natl Cancer Inst 2003; 95: 1878-1890.
45. Dorkhom SJ, Lazar AJF, Davies MA, et al. BRAF, NRAS, and KIT mutational analysis of spindle cell melanoma. J Clin Oncol 2011; 29 (Suppl):8589.
46. Langer R, Becker K, Feith M, Friess H, Hofler H, Keller G,. Genetic aberrations in primary esophageal melanomas: Molecular analysis of c-KIT, PDGFR, KRAS, NRAS and BRAF in a series of 10 cases. Mod Pathol 2011; 24: 495-501.
47. Wong CW, Fan YS, Chan TL, et al. BRAF and NRAS mutations are uncommon in melanomas arising in diverse internal organs. J Clin Pathol 2005; 58: 640-644.
48. Cohen Y, Goldenberg-Cohen N, Parrella P, et al. Lack of BRAF mutation in primary uveal melanoma. Invest Ophthalmol Vis Sci 2003; 44: 2876-2878.
49. Cruz F, III, Rubin BP, Wilson D, et al. Absence of BRAF and NRAS mutations in uveal melanoma. Cancer Res 2003; 63: 5761-5766.
50. Platz A, Egyhazi S, Ringborg U, Hansson J,. Human cutaneous melanoma; a review of NRAS and BRAF mutation frequencies in relation to histogenetic subclass and body site. Mol Oncol 2008; 1: 395-405.
51. Curtin JA, Busam K, Pinkel D, Bastian BC,. Somatic activation of KIT in distinct subtypes of melanoma. J Clin Oncol 2006; 24: 4340-4346.
52. Beadling C, Jacobson-Dunlop E, Hodi FS, et al. KIT gene mutations and copy number in melanoma subtypes. Clin Cancer Res 2008; 14: 6821-6828.
53. Ashida A, Takata M, Murata H, Kido K, Saida T,. Pathological activation of KIT in metastatic tumors of acral and mucosal melanomas. Int J Cancer 2009; 124: 862-868.
54. Torres-Cabala CA, Wang WL, Trent J, et al. Correlation between KIT expression and KIT mutation in melanoma: A study of 173 cases with emphasis on the acral-lentiginous/mucosal type. Mod Pathol 2009; 22: 1446-14456.
55. Handolias D, Hamilton AL, Salemi R, et al. Clinical responses observed with imatinib or sorafenib in melanoma patients expressing mutations in KIT. Br J Cancer 2010; 102: 1219-1223.
56. Antonescu CR, Busam KJ, Francone TD, et al. L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition. Int J Cancer 2007; 121: 257-264.
57. Rivera RS, Nagatsuka H, Gunduz M, et al. C-kit protein expression correlated with activating mutations in KIT gene in oral mucosal melanoma. Virchows Arch 2008; 452: 27-32.
58. Satzger I, Schaefer T, Kuettler U, et al. Analysis of c-KIT expression and KIT gene mutation in human mucosal melanomas. Br J Cancer 2008; 99: 2065-2069.
59. Wallander ML, Layfield LJ, Emerson LL, et al. KIT mutations in ocular melanoma: Frequency and anatomic distribution. Mod Pathol 2011; 24: 1031-1035.
60. Hodi FS, Friedlander P, Corless CL, et al. Major response to imatinib mesylate in KIT-mutated melanoma. J Clin Oncol 2008; 26: 2046-2051.
61. Lutzky J, Bauer J, Bastian BC,. Dose-dependent, complete response to imatinib of a metastatic mucosal melanoma with a K642E KIT mutation. Pigment Cell Melanoma Res 2008; 21: 492-493.
62. Satzger I, Kuttler U, Volker B, Schenck F, Kapp A, Gutzmer R,. Anal mucosal melanoma with KIT-activating mutation and response to imatinib therapy-Case report and review of the literature. Dermatology 2010; 220: 77-81.
63. Terheyden P, Houben R, Pajouh P, Thorns C, Zillikens D, Becker JC,. Response to imatinib mesylate depends on the presence of the V559A-mutated KIT oncogene. J Invest Dermatol 2010; 130: 314-316.
64. Fisher DE, Barnhill R, Hodi FS, et al. Melanoma from bench to bedside: Meeting report from the 6th international melanoma congress. Pigment Cell Melanoma Res 2010; 23: 14-26.
65. Willmore-Payne C, Layfield LJ, Holden JA,. c-KIT mutation analysis for diagnosis of gastrointestinal stromal tumors in fine needle aspiration specimens. Cancer 2005; 105: 165-170.
66. Hookim K, Roh MH, Willman J, et al. Application of immunocytochemistry and BRAF mutational analysis to direct smears of metastatic melanoma. Cancer Cytopathol 2011;epub.
67. Ogino S, Kawasaki T, Brahmandam M, et al. Sensitive sequencing method for KRAS mutation detection by Pyrosequencing. J Mol Diagn 2005; 7: 413-421.
68. Puri N, Ahmed S, Janamanchi V, et al. c-Met is a potentially new therapeutic target for treatment of human melanoma. Clin Cancer Res 2007; 13: 2246-2253.
69. Yan D, Zhou X, Chen X, et al. MicroRNA-34a inhibits uveal melanoma cell proliferation and migration through downregulation of c-Met. Invest Ophthalmol Vis Sci 2009; 50: 1559-1565.
70. Nambiar S, Mirmohammadsadegh A, Doroudi R, et al. Signaling networks in cutaneous melanoma metastasis identified by complementary DNA microarrays. Arch Dermatol 2005; 141: 165-173.
71. Lee YJ, Kim DH, Lee SH, Kim DW, Nam HS, Cho MK,. Expression of the c-Met proteins in malignant skin cancers. Ann Dermatol 2011; 23: 33-38.
72. Mascarenhas JB, Littlejohn EL, Wolsky RJ, et al. PAX3 and SOX10 activate MET receptor expression in melanoma. Pigment Cell Melanoma Res 2010; 23: 225-237.
73. Abdel-Rahman MH, Boru G, Massengill J, Salem MM, Davidorf FH,. MET oncogene inhibition as a potential target of therapy for uveal melanomas. Invest Ophthalmol Vis Sci 2010; 51: 3333-3339.