Section IV: Non-small cell lung cancer and malignant melanoma

Current Problems in Cancer

Volumn 38, Issue 5, 2014, Pages 180-198

  Fisher, Kevin E ^a   Pillai, Rathi N ^a   Kudchadkar, Ragini R ^a   Rossi, Michael R ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ANAPLASTIC LYMPHOMA KINASE; B RAF KINASE; EPIDERMAL GROWTH FACTOR RECEPTOR; EPIDERMAL GROWTH FACTOR RECEPTOR 2; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; K RAS PROTEIN; PROTEIN KINASE LKB1; PROTEIN P53; PROTEIN RET; ROS1 PROTEIN; SCATTER FACTOR RECEPTOR; UNCLASSIFIED DRUG; ANTINEOPLASTIC AGENT; TUMOR MARKER;

ARTICLE; CANCER DIAGNOSIS; DNA SEQUENCE; EXON; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GENE REARRANGEMENT; GENOMICS; HUMAN; IMMUNOHISTOCHEMISTRY; KIRSTEN SARCOMA ONCOVIRUS; LUNG ADENOCARCINOMA; MELANOMA; MOLECULAR DIAGNOSIS; NEUROBLASTOMA; NON SMALL CELL LUNG CANCER; NONHUMAN; ONCOGENE K RAS; PRACTICE GUIDELINE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SOMATIC MUTATION; VIRUS ONCOGENE; ADENOCARCINOMA; CARCINOMA, NON-SMALL-CELL LUNG; GENETICS; LUNG NEOPLASMS; MOLECULARLY TARGETED THERAPY; MUTATION; PROCEDURES;

ADENOCARCINOMA; ANTINEOPLASTIC AGENTS; CARCINOMA, NON-SMALL-CELL LUNG; HUMANS; LUNG NEOPLASMS; MELANOMA; MOLECULAR TARGETED THERAPY; MUTATION; SEQUENCE ANALYSIS, DNA; TUMOR MARKERS, BIOLOGICAL;

EID: 84910011022     PISSN: 01470272     EISSN: 15356345     Source Type: Journal    
DOI: 10.1016/j.currproblcancer.2014.08.007     Document Type: Article

References (164)

1. Awada A., Vandone A.M., Aftimos P. Personalized management of patients with solid cancers: moving from patient characteristics to tumor biology. Curr Opin Oncol 2012, 24(3):297-304.
2. Lindeman N.I., Cagle P.T., Beasley M.B., et al. Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology. Arch Pathol Lab Med 2013, 137(6):828-860.
3. Lindeman N.I., Cagle P.T., Beasley M.B., et al. Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology. J Thorac Oncol 2013, 8(7):823-859.
4. Lindeman N.I., Cagle P.T., Beasley M.B., et al. Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the Study of Lung Cancer, and Association for Molecular Pathology. J Mol Diagn 2013, 15(4):415-453.
5. Dacic S. An update in molecular diagnostics of solid tumors. Arch Pathol Lab Med 2011, 135(5):535-536.
6. Pao W., Girard N. New driver mutations in non-small-cell lung cancer. Lancet Oncol 2011, 12(2):175-180.
7. Serizawa M., Koh Y., Kenmotsu H., et al. Assessment of mutational profile of Japanese lung adenocarcinoma patients by multitarget assays: a prospective, single-institute study. Cancer 2014, 120(10):1471-1481.
8. Suda K., Tomizawa K., Mitsudomi T. Biological and clinical significance of KRAS mutations in lung cancer: an oncogenic driver that contrasts with EGFR mutation. Cancer Metastasis Rev 2010, 29(1):49-60.
9. Douillard J.Y., Shepherd F.A., Hirsh V., et al. Molecular predictors of outcome with gefitinib and docetaxel in previously treated non-small-cell lung cancer: data from the randomized phase III INTEREST trial. J Clin Oncol 2010, 28(5):744-752.
10. Zhou C., Wu Y.L., Chen G., et al. Erlotinib versus chemotherapy as first-line treatment for patients with advanced EGFR mutation-positive non-small-cell lung cancer (OPTIMAL, CTONG-0802): a multicentre, open-label, randomised, phase 3 study. Lancet Oncol 2011, 12(8):735-742.
11. Khozin S., Blumenthal G.M., Jiang X., et al. U.S. Food and Drug Administration Approval Summary: erlotinib for the first-line treatment of metastatic non-small cell lung cancer with epidermal growth factor receptor exon 19 deletions or exon 21 (L858R) substitution mutations. Oncologist 2014, 19(7):774-779.
12. Cooper W.A., Lam D.C., O'Toole S.A., Minna J.D. Molecular biology of lung cancer. J Thorac Dis 2013, 5(Suppl 5):S479-S490.
13. Fan Q.W., Cheng C.K., Gustafson W.C., et al. EGFR phosphorylates tumor-derived EGFRvIII driving STAT3/5 and progression in glioblastoma. Cancer cell 2013, 24(4):438-449.
14. Sholl L.M., Xiao Y., Joshi V., et al. EGFR mutation is a better predictor of response to tyrosine kinase inhibitors in non-small cell lung carcinoma than FISH, CISH, and immunohistochemistry. Am J Clin Pathol 2010, 133(6):922-934.
15. Sasaki H., Kawano O., Endo K., Yukiue H., Yano M., Fujii Y. EGFRvIII mutation in lung cancer correlates with increased EGFR copy number. Oncol Rep 2007, 17(2):319-323.
16. Pinter F., Papay J., Almasi A., et al. Epidermal growth factor receptor (EGFR) high gene copy number and activating mutations in lung adenocarcinomas are not consistently accompanied by positivity for EGFR protein by standard immunohistochemistry. J Mol Diagn 2008, 10(2):160-168.
17. Lynch T.J., Bell D.W., Sordella R., et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N Engl J Med 2004, 350(21):2129-2139.
18. Arcila M.E., Nafa K., Chaft J.E., et al. EGFR exon 20 insertion mutations in lung adenocarcinomas: prevalence, molecular heterogeneity, and clinicopathologic characteristics. Mol Cancer Ther 2013, 12(2):220-229.
19. Pao W., Miller V.A., Politi K.A., et al. Acquired resistance of lung adenocarcinomas to gefitinib or erlotinib is associated with a second mutation in the EGFR kinase domain. PLoS Med 2005, 2(3):e73.
20. Yasuda H., Kobayashi S., Costa D.B. EGFR exon 20 insertion mutations in non-small-cell lung cancer: preclinical data and clinical implications. Lancet Oncol 2012, 13(1):e23-31.
21. Sharma S.V., Bell D.W., Settleman J., Haber D.A. Epidermal growth factor receptor mutations in lung cancer. Nat Rev Cancer 2007, 7(3):169-181.
22. Endo K., Konishi A., Sasaki H., et al. Epidermal growth factor receptor gene mutation in non-small cell lung cancer using highly sensitive and fast TaqMan PCR assay. Lung Cancer 2005, 50(3):375-384.
23. Singh R.R., Patel K.P., Routbort M.J., et al. Clinical validation of a next-generation sequencing screen for mutational hotspots in 46 cancer-related genes. J Mol Diag 2013, 15(5):607-622.
24. Su Z., Dias-Santagata D., Duke M., et al. A platform for rapid detection of multiple oncogenic mutations with relevance to targeted therapy in non-small-cell lung cancer. J Mol Diag 2011, 13(1):74-84.
25. Rodig S.J., Mino-Kenudson M., Dacic S., et al. Unique clinicopathologic features characterize ALK-rearranged lung adenocarcinoma in the western population. Clin Cancer Res 2009, 15(16):5216-5223.
26. Soda M., Choi Y.L., Enomoto M., et al. Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer. Nature 2007, 448(7153):561-566.
27. Takeuchi K., Choi Y.L., Togashi Y., et al. KIF5B-ALK, a novel fusion oncokinase identified by an immunohistochemistry-based diagnostic system for ALK-positive lung cancer. Clin Cancer Res 2009, 15(9):3143-3149.
28. Hong M., Kim R.N., Song J.Y., et al. HIP1-ALK, a novel fusion protein identified in lung adenocarcinoma. J Thorac Oncol 2014, 9(3):419-422.
29. Togashi Y., Soda M., Sakata S., et al. KLC1-ALK: a novel fusion in lung cancer identified using a formalin-fixed paraffin-embedded tissue only. PloS One 2012, 7(2):e31323.
30. Shaw A.T., Kim D.W., Nakagawa K., et al. Crizotinib versus chemotherapy in advanced ALK-positive lung cancer. N Engl J Med 2013, 368(25):2385-2394.
31. Steuer C.E., Ramalingam S.S. ALK-positive non-small cell lung cancer: mechanisms of resistance and emerging treatment options. Cancer 2014, 120(16):2392-2402.
32. Katayama R., Shaw A.T., Khan T.M., et al. Mechanisms of acquired crizotinib resistance in ALK-rearranged lung Cancers. Sci Transl Med 2012, 4(120):120ra17.
33. Shaw A.T., Kim D.W., Mehra R., et al. Ceritinib in ALK-rearranged non-small-cell lung cancer. N Engl J Med 2014, 370(13):1189-1197.
34. Pillai R.N., Ramalingam S.S. The biology and clinical features of non-small cell lung cancers with EML4-ALK translocation. Curr Oncol Rep 2012, 14(2):105-110.
35. Koivunen J.P., Mermel C., Zejnullahu K., et al. EML4-ALK fusion gene and efficacy of an ALK kinase inhibitor in lung cancer. Clin Cancer Res 2008, 14(13):4275-4283.
36. Shaw A.T., Solomon B., Kenudson M.M. Crizotinib and testing for ALK. J Natl Compr Canc Netw 2011, 9(12):1335-1341.
37. Takeuchi K., Choi Y.L., Soda M., et al. Multiplex reverse transcription-PCR screening for EML4-ALK fusion transcripts. Clin Cancer Res 2008, 14(20):6618-6624.
38. Mino-Kenudson M., Mark E.J. Reflex testing for epidermal growth factor receptor mutation and anaplastic lymphoma kinase fluorescence in situ hybridization in non-small cell lung cancer. Arch Pathol Lab Med 2011, 135(5):655-664.
39. Ali G., Proietti A., Pelliccioni S., et al. ALK rearrangement in a large series of consecutive non-small cell lung cancers: comparison between a new immunohistochemical approach and fluorescent in situ hybridization for the screening of patients eligible for crizotinib treatment. Arch Pathol Lab Med 2014, [Epub ahead of print], http://dx.doi.org/10.5858/arpa.2013-0388-OA.
40. Zhou J., Zhao J., Sun K., et al. Accurate and economical detection of ALK positive lung adenocarcinoma with semiquantitative immunohistochemical screening. PloS One 2014, 9(3):e92828.
41. Karachaliou N., Mayo C., Costa C., et al. KRAS mutations in lung cancer. Clin Lung Cancer 2013, 14(3):205-214.
42. Gainor J.F., Varghese A.M., Ou S.H., et al. ALK rearrangements are mutually exclusive with mutations in EGFR or KRAS: an analysis of 1,683 patients with non-small cell lung cancer. Clin Cancer Res 2013, 19(15):4273-4281.
43. Brose M.S., Volpe P., Feldman M., et al. BRAF and RAS mutations in human lung cancer and melanoma. Cancer Res 2002, 62(23):6997-7000.
44. Dingemans A.-M.C., Mellema W.W., Groen H.J.M., et al. A phase II study of sorafenib in patients with platinum-pretreated, advanced (stage IIIb or IV) non-small cell lung cancer with a KRAS mutation. Clin Cancer Res. 2013, 19(3):743-751.
45. Janne P.A., Shaw A.T., Pereira J.R., et al. Selumetinib plus docetaxel for KRAS-mutant advanced non-small-cell lung cancer: a randomised, multicentre, placebo-controlled, phase 2 study. Lancet Oncol 2013, 14(1):38-47.
46. Mao C., Qiu L.X., Liao R.Y., et al. KRAS mutations and resistance to EGFR-TKIs treatment in patients with non-small cell lung cancer: a meta-analysis of 22 studies. Lung Cancer 2010, 69(3):272-278.
47. Linardou H., Dahabreh I.J., Kanaloupiti D., et al. Assessment of somatic k-RAS mutations as a mechanism associated with resistance to EGFR-targeted agents: a systematic review and meta-analysis of studies in advanced non-small-cell lung cancer and metastatic colorectal cancer. Lancet Oncol 2008, 9(10):962-972.
48. Roberts P.J., Stinchcombe T.E., Der C.J., Socinski M.A. Personalized medicine in non-small-cell lung cancer: is KRAS a useful marker in selecting patients for epidermal growth factor receptor-targeted therapy?. J Clin Oncol 2010, 28(31):4769-4777.
49. Tuononen K., Maki-Nevala S., Sarhadi V.K., et al. Comparison of targeted next-generation sequencing (NGS) and real-time PCR in the detection of EGFR, KRAS, and BRAF mutations on formalin-fixed, paraffin-embedded tumor material of non-small cell lung carcinoma-superiority of NGS. Genes Chromosomes Cancer 2013, 52(5):503-511.
50. Adams J.A., Post K.M., Bilbo S.A., et al. Performance evaluation comparison of 3 commercially available PCR-based KRAS mutation testing platforms. Appl Immunohistochem Mol Morphol 2014, 22(3):231-235.
51. D'Angelo S.P., Park B., Azzoli C.G., et al. Reflex testing of resected stage I through III lung adenocarcinomas for EGFR and KRAS mutation: report on initial experience and clinical utility at a single center. J Thorac Cardiovasc Surg 2011, 141(2):476-480.
52. Mazieres J., Peters S., Lepage B., et al. Lung cancer that harbors an HER2 mutation: epidemiologic characteristics and therapeutic perspectives. J Clin Oncol 2013, 31(16):1997-2003.
53. Liu L., Shao X., Gao W., et al. The role of human epidermal growth factor receptor 2 as a prognostic factor in lung cancer: a meta-analysis of published data. J Thorac Oncol 2010, 5(12):1922-1932.
54. Cappuzzo F., Cho Y.G., Sacconi A., et al. p95HER2 truncated form in resected non-small cell lung cancer. J Thorac Oncol 2012, 7(3):520-527.
55. Landi L., Cappuzzo F. HER2 and lung cancer. Expert Rev Anticancer Ther 2013, 13(10):1219-1228.
56. Arcila M.E., Chaft J.E., Nafa K., et al. Prevalence, clinicopathologic associations, and molecular spectrum of ERBB2 (HER2) tyrosine kinase mutations in lung adenocarcinomas. Clin Cancer Res 2012, 18(18):4910-4918.
57. Thunnissen E., van der Oord K., den Bakker M. Prognostic and predictive biomarkers in lung cancer. Rev Virchows Arch 2014, 464(3):347-358.
58. Rahman M.A., Salajegheh A., Smith R.A., Lam A.K. B-Raf mutation: a key player in molecular biology of cancer. Exp Mol Pathol 2013, 95(3):336-342.
59. Machnicki M.M., Stoklosa T. BRAF-a new player in hematological neoplasms. Blood Cells Mol Dis 2014, 53(1-2):77-83.
60. Ohashi K., Sequist L.V., Arcila M.E., et al. Lung cancers with acquired resistance to EGFR inhibitors occasionally harbor BRAF gene mutations but lack mutations in KRAS, NRAS, or MEK1. Proc Natl Acad Sci U S A 2012, 109(31):E2127-E2133.
61. Peters S., Michielin O., Zimmermann S. Dramatic response induced by vemurafenib in a BRAF V600E-mutated lung adenocarcinoma. J Clin Oncol 2013, 31(20):e341-344.
62. Marchetti A., Felicioni L., Malatesta S., et al. Clinical features and outcome of patients with non-small-cell lung cancer harboring BRAF mutations. J Clin Oncol 2011, 29(26):3574-3579.
63. Cardarella S., Ogino A., Nishino M., et al. Clinical, pathologic, and biologic features associated with BRAF mutations in non-small cell lung cancer. Clin Cancer Res 2013, 19(16):4532-4540.
64. Yang H., Higgins B., Kolinsky K., et al. RG7204 (PLX4032), a selective BRAFV600E inhibitor, displays potent antitumor activity in preclinical melanoma models. Cancer Res 2010, 70(13):5518-5527.
65. Halait H., Demartin K., Shah S., et al. Analytical performance of a real-time PCR-based assay for V600 mutations in the BRAF gene, used as the companion diagnostic test for the novel BRAF inhibitor vemurafenib in metastatic melanoma. Diagn Mol Pathol 2012, 21(1):1-8.
66. Mogi A., Kuwano H. TP53 mutations in nonsmall cell lung cancer. J Biomed Biotechnol 2011, 2011:583929.
67. Greulich H. The genomics of lung adenocarcinoma: opportunities for targeted therapies. Genes Cancer 2010, 1(12):1200-1210.
68. Vazquez A., Bond E.E., Levine A.J., Bond G.L. The genetics of the p53 pathway, apoptosis and cancer therapy. Nat Rev Drug Discov 2008, 7(12):979-987.
69. Nemunaitis J., Swisher S.G., Timmons T., et al. Adenovirus-mediated p53 gene transfer in sequence with cisplatin to tumors of patients with non-small-cell lung cancer. J Clin Oncol 2000, 18(3):609-622.
70. Senzer N., Nemunaitis J., Nemunaitis D., et al. Phase I study of a systemically delivered p53 nanoparticle in advanced solid tumors. Mol Ther 2013, 21(5):1096-1103.
71. Steels E., Paesmans M., Berghmans T., et al. Role of p53 as a prognostic factor for survival in lung cancer: a systematic review of the literature with a meta-analysis. Eur Respir J 2001, 18(4):705-719.
72. Kandioler D., Stamatis G., Eberhardt W., et al. Growing clinical evidence for the interaction of the p53 genotype and response to induction chemotherapy in advanced non-small cell lung cancer. J Thorac Cardiovasc Surg 2008, 135(5):1036-1041.
73. Cai X., Sheng J., Tang C., et al. Frequent mutations in EGFR, KRAS and TP53 genes in human lung cancer tumors detected by ion torrent DNA sequencing. PloS One 2014, 9(4):e95228.
74. Ma X., Rousseau V., Sun H., et al. Significance of TP53 mutations as predictive markers of adjuvant cisplatin-based chemotherapy in completely resected non-small-cell lung cancer. Mol Oncol 2014, 8(3):555-564.
75. Li J., Milbury C.A., Li C., Makrigiorgos G.M. Two-round coamplification at lower denaturation temperature-PCR (COLD-PCR)-based sanger sequencing identifies a novel spectrum of low-level mutations in lung adenocarcinoma. Hum Mutat 2009, 30(11):1583-1590.
76. Imielinski M., Berger A.H., Hammerman P.S., et al. Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing. Cell 2012, 150(6):1107-1120.
77. Korsse S.E., Peppelenbosch M.P., van Veelen W. Targeting LKB1 signaling in cancer. Biochim Biophys Acta 2013, 1835(2):194-210.
78. Sanchez-Cespedes M., Parrella P., Esteller M., et al. Inactivation of LKB1/STK11 is a common event in adenocarcinomas of the lung. Cancer Res 2002, 62(13):3659-3662.
79. Sanchez-Cespedes M. The role of LKB1 in lung cancer. Fam Cancer 2011, 10(3):447-453.
80. Hawley S.A., Boudeau J., Reid J.L., et al. Complexes between the LKB1 tumor suppressor, STRAD alpha/beta and MO25 alpha/beta are upstream kinases in the AMP-activated protein kinase cascade. J Biol 2003, 2(4):28.
81. Liu X., Mody K., de Abreu F.B., et al. Molecular profiling of appendiceal epithelial tumors using massively parallel sequencing to identify somatic mutations. Clin Chem 2014, 60(7):1004-1011.
82. Mohseni M., Sun J., Lau A., et al. A genetic screen identifies an LKB1-MARK signalling axis controlling the Hippo-YAP pathway. Nat Cell Biol 2014, 16(1):108-117.
83. Mahoney C.L., Choudhury B., Davies H., et al. LKB1/KRAS mutant lung cancers constitute a genetic subset of NSCLC with increased sensitivity to MAPK and mTOR signalling inhibition. Br J Cancer 2009, 100(2):370-375.
84. Chen Z., Cheng K., Walton Z., et al. A murine lung cancer co-clinical trial identifies genetic modifiers of therapeutic response. Nature 2012, 483(7391):613-617.
85. Bergethon K., Shaw A.T., Ou S.H., et al. ROS1 rearrangements define a unique molecular class of lung cancers. J Clin Oncol 2012, 30(8):863-870.
86. Davies K.D., Doebele R.C. Molecular pathways: ROS1 fusion proteins in cancer. Clin Cancer Res 2013, 19(15):4040-4045.
87. Lovly C.M., Heuckmann J.M., de Stanchina E., et al. Insights into ALK-driven cancers revealed through development of novel ALK tyrosine kinase inhibitors. Cancer Res 2011, 71(14):4920-4931.
88. Awad M.M., Katayama R., McTigue M., et al. Acquired resistance to crizotinib from a mutation in CD74-ROS1. N Engl J Med 2013, 368(25):2395-2401.
89. Davare M.A., Saborowski A., Eide C.A., et al. Foretinib is a potent inhibitor of oncogenic ROS1 fusion proteins. Proc Natl Acad Sci U S A 2013, 110(48):19519-19524.
90. Lira M.E., Choi Y.L., Lim S.M., et al. A single-tube multiplexed assay for detecting ALK, ROS1, and RET fusions in lung cancer. J Mol Diagn 2014, 16(2):229-243.
91. Sholl L.M., Sun H., Butaney M., et al. ROS1 immunohistochemistry for detection of ROS1-rearranged lung adenocarcinomas. Am J Surg Pathol 2013, 37(9):1441-1449.
92. Mescam-Mancini L., Lantuejoul S., Moro-Sibilot D., et al. On the relevance of a testing algorithm for the detection of ROS1-rearranged lung adenocarcinomas. Lung Cancer 2014, 83(2):168-173.
93. Ou S.H., Soo R.A., Kubo A., Kawaguchi T., Ahn M.J. Will the requirement by the US FDA to simultaneously co-develop companion diagnostics (CDx) delay the approval of receptor tyrosine kinase inhibitors for RTK-rearranged (ROS1-, RET-, AXL-, PDGFR-α-, NTRK1-) non-small cell lung cancer globally?. Front Oncol 2014, 4:58.
94. Kohno T., Ichikawa H., Totoki Y., et al. KIF5B-RET fusions in lung adenocarcinoma. Nat Med 2012, 18(3):375-377.
95. Wang R., Hu H., Pan Y., et al. RET fusions define a unique molecular and clinicopathologic subtype of non-small-cell lung cancer. J Clin Oncol 2012, 30(35):4352-4359.
96. Phay J.E., Shah M.H., Targeting R.E.T. Receptor tyrosine kinase activation in cancer. Clin Cancer Res 2010, 16(24):5936-5941.
97. Drilon A., Wang L., Hasanovic A., et al. Response to Cabozantinib in patients with RET fusion-positive lung adenocarcinomas. Cancer Discov 2013, 3(6):630-635.
98. Gautschi O., Zander T., Keller F.A., et al. A patient with lung adenocarcinoma and RET fusion treated with vandetanib. J Thorac Oncol 2013, 8(5):e43-44.
99. Mizukami T., Shiraishi K., Shimada Y., et al. Molecular mechanisms underlying oncogenic RET fusion in lung adenocarcinoma. J Thorac Oncol 2014, 9(5):622-630.
100. Robinson K.W., Sandler A.B. The role of MET receptor tyrosine kinase in non-small cell lung cancer and clinical development of targeted anti-MET agents. Oncologist 2013, 18(2):115-122.
101. Cappuzzo F., Marchetti A., Skokan M., et al. Increased MET gene copy number negatively affects survival of surgically resected non-small-cell lung cancer patients. J Clin Oncol 2009, 27(10):1667-1674.
102. Engelman J.A., Zejnullahu K., Mitsudomi T., et al. MET amplification leads to gefitinib resistance in lung cancer by activating ERBB3 signaling. Science 2007, 316(5827):1039-1043.
103. Bean J., Brennan C., Shih J.Y., et al. MET amplification occurs with or without T790M mutations in EGFR mutant lung tumors with acquired resistance to gefitinib or erlotinib. Proc Natl Acad Sci U S A 2007, 104(52):20932-20937.
104. Sequist L.V., Waltman B.A., Dias-Santagata D., et al. Genotypic and histological evolution of lung cancers acquiring resistance to EGFR inhibitors. Sci Transl Med 2011, 3(75):75ra26.
105. Sequist L.V., von Pawel J., Garmey E.G., et al. Randomized phase II study of erlotinib plus tivantinib versus erlotinib plus placebo in previously treated non-small-cell lung cancer. J Clin Oncol 2011, 29(24):3307-3315.
106. Scagliotti G.V., Novello S., Schiller J.H., et al. Rationale and design of MARQUEE: a phase III, randomized, double-blind study of tivantinib plus erlotinib versus placebo plus erlotinib in previously treated patients with locally advanced or metastatic, nonsquamous, non-small-cell lung cancer. Clin Lung Cancer 2012, 13(5):391-395.
107. Bendell J.C., Ervin T.J., Gallinson D., et al. Treatment rationale and study design for a randomized, double-blind, placebo-controlled phase II study evaluating onartuzumab (MetMAb) in combination with bevacizumab plus mFOLFOX-6 in patients with previously untreated metastatic colorectal cancer. Clin Colorectal Cancer 2013, 12(3):218-222.
108. Kris M.G., Johnson B.E., Berry L.D., et al. Using multiplexed assays of oncogenic drivers in lung cancers to select targeted drugs. J Am Med Assoc 2014, 311(19):1998-2006.
109. Cancer Genome Atlas Research Network Comprehensive genomic characterization of squamous cell lung cancers. Nature 2012, 489(7417):519-525.
110. Fox J.L. Master protocol for squamous cell lung cancer readies for launch. Nat Biotechnol 2014, 32(2):116-118.
111. Abrams J., Conley B., Mooney M., et al. National Cancer Institute[U+05F3]s Precision Medicine Initiatives for the new National Clinical Trials Network. Am Soc Clin Oncol Educ Book 2014, 34:71-76.
112. Clark W.H., From L., Bernardino E.A., Mihm M.C. The histogenesis and biologic behavior of primary human malignant melanomas of the skin. Cancer Res 1969, 29(3):705-727.
113. Breslow A. Thickness, cross-sectional areas and depth of invasion in the prognosis of cutaneous melanoma. Ann Surg 1970, 172(5):902-908.
114. Balch C.M., Gershenwald J.E., Soong S.J., et al. Final version of 2009 AJCC melanoma staging and classification. J Clin Oncol 2009, 27(36):6199-6206.
115. Keating G.M., Lyseng-Williamson K.A. Vemurafenib: a guide to its use in unresectable or metastatic melanoma. Am J Clin Dermatol 2013, 14(1):65-69.
116. Chapman P.B., Hauschild A., Robert C., et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med 2011, 364(26):2507-2516.
117. Davies H., Bignell G.R., Cox C., et al. Mutations of the BRAF gene in human cancer. Nature 2002, 417(6892):949-954.
118. Hocker T., Tsao H. Ultraviolet radiation and melanoma: a systematic review and analysis of reported sequence variants. Hum Mutat 2007, 28(6):578-588.
119. Grossmann A.H., Grossmann K.F., Wallander M.L. Molecular testing in malignant melanoma. Diagn Cytopathol 2012, 40(6):503-510.
120. Pollock P.M., Harper U.L., Hansen K.S., et al. High frequency of BRAF mutations in nevi. Nat Genet 2003, 33(1):19-20.
121. Lito P., Rosen N., Solit D.B. Tumor adaptation and resistance to RAF inhibitors. Nat Med 2013, 19(11):1401-1409.
122. Poulikakos P.I., Rosen N. Mutant BRAF melanomas-dependence and resistance. Cancer Cell 2011, 19(1):11-15.
123. Flaherty K.T., Infante J.R., Daud A., et al. Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations. N Engl J Med 2012, 367(18):1694-1703.
124. Anderson S., Bloom K.J., Vallera D.U., et al. Multisite analytic performance studies of a real-time polymerase chain reaction assay for the detection of BRAF V600E mutations in formalin-fixed, paraffin-embedded tissue specimens of malignant melanoma. Arch Pathol Lab Med 2012, 136(11):1385-1391.
125. Ascierto P.A., Minor D., Ribas A., et al. Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma. J Clin Oncol 2013, 31(26):3205-3211.
126. McArthur G.A., Chapman P.B., Robert C., 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):323-332.
127. Long G.V., Menzies A.M., Nagrial A.M., et al. Prognostic and clinicopathologic associations of oncogenic BRAF in metastatic melanoma. J Clin Oncol 2011, 29(10):1239-1246.
128. Menzies A.M., Haydu L.E., Visintin L., et al. Distinguishing clinicopathologic features of patients with V600E and V600K BRAF-mutant metastatic melanoma. Clin Cancer Res 2012, 18(12):3242-3249.
129. Colomba E., Helias-Rodzewicz Z., Von Deimling A., et al. Detection of BRAF p.V600E mutations in melanomas: comparison of four methods argues for sequential use of immunohistochemistry and pyrosequencing. J Mol Diagn 2013, 15(1):94-100.
130. Kang S.H., Pyo J.Y., Yang S.W., Hong S.W. Detection of BRAF V600E mutation with thyroid tissue using pyrosequencing: comparison with PNA-clamping and real-time PCR. Am J Clin Pathol 2013, 139(6):759-764.
131. Davies M.A., Samuels Y. Analysis of the genome to personalize therapy for melanoma. Oncogene 2010, 29(41):5545-5555.
132. Tay C.M., Ong C.W., Lee V.K., Pang B. KIT gene mutation analysis in solid tumours: biology, clincial applications and trends in diagnostic reporting. Pathology 2013, 45(2):127-137.
133. Hodi F.S., Friedlander P., Corless C.L., et al. Major response to imatinib mesylate in KIT-mutated melanoma. J Clin Oncol 2008, 26(12):2046-2051.
134. Lyle M., Long G.V. Diagnosis and treatment of KIT-mutant metastatic melanoma. J Clin Oncol 2013, 31(26):3176-3181.
135. Kunstlinger H., Huss S., Merkelbach-Bruse S., et al. Gastrointestinal stromal tumors with KIT exon 9 mutations: update on genotype-phenotype correlation and validation of a high-resolution melting assay for mutational testing. Am J Surg Pathol 2013, 37(11):1648-1659.
136. Woodman S.E., Lazar A.J., Aldape K.D., Davies M.A. New strategies in melanoma: molecular testing in advanced disease. Clin Cancer Res. 2012, 18(5):1195-1200.
137. Curtin J.A., Fridlyand J., Kageshita T., et al. Distinct sets of genetic alterations in melanoma. N Engl J Med 2005, 353(20):2135-2147.
138. Tsao H., Chin L., Garraway L.A., Fisher D.E. Melanoma: from mutations to medicine. Genes Dev 2012, 26(11):1131-1155.
139. Lovly C.M., Dahlman K.B., Fohn L.E., et al. Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials. PloS One 2012, 7(4):e35309.
140. Charbel C., Fontaine R.H., Malouf G.G., et al. NRAS mutation is the sole recurrent somatic mutation in large congenital melanocytic nevi. J Invest Dermatol 2014, 134(4):1067-1074.
141. Tenedini E., Bernardis I., Artusi V., et al. Targeted cancer exome sequencing reveals recurrent mutations in myeloproliferative neoplasms. Leukemia 2014, 28(5):1052-1059.
142. Bucheit A.D., Syklawer E., Jakob J.A., et al. Clinical characteristics and outcomes with specific BRAF and NRAS mutations in patients with metastatic melanoma. Cancer 2013, 119(21):3821-3829.
143. Ekedahl H., Cirenajwis H., Harbst K., et al. The clinical significance of BRAF and NRAS mutations in a clinic-based metastatic melanoma cohort. Bri J Dermatol 2013, 169(5):1049-1055.
144. Carlino M.S., Haydu L.E., Kakavand H., et al. Correlation of BRAF and NRAS mutation status with outcome, site of distant metastasis and response to chemotherapy in metastatic melanoma. Br J Cancer 2014, 111(2):292-299.
145. Jakob J.A., Bassett R.L., Ng C.S., et al. NRAS mutation status is an independent prognostic factor in metastatic melanoma. Cancer 2012, 118(16):4014-4023.
146. Wilson M.A., Zhao F., Letrero R., et al. Correlation of somatic mutations and clinical outcome in melanoma patients treated with carboplatin, paclitaxel, and sorafenib. Clin Cancer Res 2014, 20(12):3328-3337.
147. Ascierto P.A., Schadendorf D., Berking C., et al. MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study. Lancet Oncol 2013, 14(3):249-256.
148. Solit D.B., Garraway L.A., Pratilas C.A., et al. BRAF mutation predicts sensitivity to MEK inhibition. Nature 2006, 439(7074):358-362.
149. Van Raamsdonk C.D., Bezrookove V., Green G., et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature 2009, 457(7229):599-602.
150. Van Raamsdonk C.D., Griewank K.G., Crosby M.B., et al. Mutations in GNA11 in uveal melanoma. N Engl J Med 2010, 363(23):2191-2199.
151. Hawkes J.E., Campbell J., Garvin D., Cannon-Albright L., Cassidy P., Leachman S.A. Lack of GNAQ and GNA11 germ-line mutations in familial melanoma pedigrees with uveal melanoma or blue nevi. Front Oncol 2013, 3:160.
152. Ambrosini G., Pratilas C.A., Qin L.X., et al. Identification of unique MEK-dependent genes in GNAQ mutant uveal melanoma involved in cell growth, tumor cell invasion, and MEK resistance. Clin Cancer Res 2012, 18(13):3552-3561.
153. Grossmann V., Kohlmann A., Klein H.U., et al. Targeted next-generation sequencing detects point mutations, insertions, deletions and balanced chromosomal rearrangements as well as identifies novel leukemia-specific fusion genes in a single procedure. Leukemia 2011, 25(4):671-680.
154. Abel H.J., Al-Kateb H., Cottrell C.E., et al. Detection of gene rearrangements in targeted clinical next-generation sequencing. J Molr Diagn 2014, 16(4):405-417.
155. Pritchard C.C., Salipante S.J., Koehler K., et al. Validation and implementation of targeted capture and sequencing for the detection of actionable mutation, copy number variation, and gene rearrangement in clinical cancer specimens. J Mol Diagn 2014, 16(1):56-67.
156. Kris M.G., Johnson B.E., Berry L.D., et al. Using multiplexed assays of oncogenic drivers in lung cancers to select targeted drugs. J Am Med Assoc 2014, 311(19):1998-2006.
157. Distribution of somatic mutation in KRAS. COSMIC Database v68 ed. Sanger Institute. ; updated February, 2014 Accessed 14.05.14. http://cancer.sanger.ac.uk/cancergenome/projects/cosmic/.
158. Distribution of somatic mutation in BRAF. COSMIC Database v68 ed. Sanger Institute. ; updated February 4, 2014 Accessed 14.05.14. http://cancer.sanger.ac.uk/cancergenome/projects/cosmic/.
159. Yoshino I., Osoegawa A., Yohena T., et al. Loss of heterozygosity (LOH) in non-small cell lung cancer: difference between adenocarcinoma and squamous cell carcinoma. Respir Med. 2005, 99(3):308-312.
160. Sanchez-Cespedes M. A role for LKB1 gene in human cancer beyond the Peutz-Jeghers syndrome. Oncogene 2007, 26(57):7825-7832.
161. Takeuchi K., Soda M., Togashi Y., et al. RET, ROS1 and ALK fusions in lung cancer. Nat Med 2012, 18(3):378-381.
162. Beadling C., Jacobson-Dunlop E., Hodi F.S., et al. KIT gene mutations and copy number in melanoma subtypes. Clin Cancer Res 2008, 14(21):6821-6828.
163. KIT mutations in melanoma. MyCancerGenome database ed. Vanderbilt-Ingram Cancer Center. ; updated September 6, 2013 Accessed 10.06.14. http://www.mycancergenome.org/content/disease/melanoma/kit/110/.
164. NRAS mutations in melanoma. MyCancerGenome database ed. Vanderbilt-Ingram Cancer Center. ; updated April 25, 2014 Accessed June 10, 2014. http://www.mycancergenome.org/content/disease/melanoma/nras/81/.