Predictive molecular markers in metastases to the central nervous system: recent advances and future avenues

Acta Neuropathologica

Volumn 128, Issue 6, 2014, Pages 879-891

  Berghoff, Anna Sophie ^a   Bartsch, Rupert ^a   Wöhrer, Adelheid ^a,b   Streubel, Berthold ^a,c   Birner, Peter ^a   Kros, Johan M ^d   Brastianos, Priscilla K ^g,h   von Deimling, Andreas ^e,f   Preusser, Matthias ^a  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

^c UNIV KLIN FÜR FRAUENHEILKUNDE   (Austria)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF HEIDELBERG   (Germany)

^f GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^g MASSACHUSETTS GENERAL HOSPITAL CANCER CENTER   (United States)

^h HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Biomarkers; Brain metastases; Cancer; Prediction; Review

Indexed keywords

ANAPLASTIC LYMPHOMA KINASE; B RAF KINASE; CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; EPIDERMAL GROWTH FACTOR RECEPTOR; EPIDERMAL GROWTH FACTOR RECEPTOR 2; ESTROGEN RECEPTOR; FIBROBLAST GROWTH FACTOR RECEPTOR 1; KI 67 ANTIGEN; PROGESTERONE RECEPTOR; PROGRAMMED DEATH 1 LIGAND 1; RAS PROTEIN; STEROID RECEPTOR; TUMOR MARKER; BIOLOGICAL MARKER;

BREAST CANCER; CANCER OF UNKNOWN PRIMARY SITE; CANCER PROGNOSIS; CANCER SCREENING; CANCER THERAPY; CENTRAL NERVOUS SYSTEM METASTASIS; CLINICAL DECISION MAKING; CLINICAL TRIAL (TOPIC); COLORECTAL CANCER; DRUG TARGETING; ESOPHAGUS CANCER; GENE AMPLIFICATION; GENE MUTATION; GENE OVEREXPRESSION; GENE REARRANGEMENT; HUMAN; IMMUNOHISTOCHEMISTRY; KIDNEY CARCINOMA; LUMINAL A BREAST CANCER; LUMINAL B BREAST CANCER; MELANOMA; MOLECULAR BIOLOGY; NEXT GENERATION SEQUENCING; NON SMALL CELL LUNG CANCER; ONCOGENE N RAS; OUTCOME ASSESSMENT; PRIMARY TUMOR; PRIORITY JOURNAL; REVIEW; SCREENING TEST; SMALL CELL LUNG CANCER; SYSTEMIC THERAPY; THERAPY EFFECT; TRIPLE NEGATIVE BREAST CANCER; TUMOR GROWTH; TUMOR MICROENVIRONMENT; CENTRAL NERVOUS SYSTEM NEOPLASMS; GENETICS; METABOLISM; PROGNOSIS; SECONDARY;

BIOLOGICAL MARKERS; CENTRAL NERVOUS SYSTEM NEOPLASMS; HUMANS; PROGNOSIS;

EID: 84921937656     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-014-1350-7     Document Type: Review

References (99)

1. Ali S, Coombes RC (2002) Endocrine-responsive breast cancer and strategies for combating resistance. Nat Rev Cancer 2(2):101–112. doi:10.1038/nrc721
2. Amir E, Miller N, Geddie W, Freedman O, Kassam F, Simmons C, Oldfield M, Dranitsaris G, Tomlinson G, Laupacis A, Tannock IF, Clemons M (2012) Prospective study evaluating the impact of tissue confirmation of metastatic disease in patients with breast cancer. J Clin Oncol 30(6):587–592. doi:10.1200/JCO.2010.33.5232
3. Bachelot T, Romieu G, Campone M, Dieras V, Cropet C, Dalenc F, Jimenez M, Le Rhun E, Pierga JY, Goncalves A, Leheurteur M, Domont J, Gutierrez M, Cure H, Ferrero JM, Labbe-Devilliers C (2013) Lapatinib plus capecitabine in patients with previously untreated brain metastases from HER2-positive metastatic breast cancer (LANDSCAPE): a single-group phase 2 study. Lancet Oncol 14(1):64–71. doi:10.1016/S1470-2045(12)70432-1
4. Bachmann C, Grischke EM, Staebler A, Schittenhelm J, Wallwiener D (2013) Receptor change-clinicopathologic analysis of matched pairs of primary and cerebral metastatic breast cancer. J Cancer Res Clin Oncol 139(11):1909–1916. doi:10.1007/s00432-013-1511-4
5. Bang YJ, Van Cutsem E, Feyereislova A, Chung HC, Shen L, Sawaki A, Lordick F, Ohtsu A, Omuro Y, Satoh T, Aprile G, Kulikov E, Hill J, Lehle M, Ruschoff J, Kang YK (2010) Trastuzumab in combination with chemotherapy versus chemotherapy alone for treatment of HER2-positive advanced gastric or gastro-oesophageal junction cancer (ToGA): a phase 3, open-label, randomised controlled trial. Lancet 376(9742):687–697. doi:10.1016/S0140-6736(10)61121-X
6. Bartsch R, Berghoff AS, Preusser M (2013) Optimal management of brain metastases from breast cancer. Issues and considerations. CNS Drugs 27(2):121–134. doi:10.1007/s40263-012-0024-z
7. Bartsch R, Berghoff AS, Preusser M (2014) Breast cancer brain metastases responding to primary systemic therapy with T-DM1. J Neurooncol 116(1):205–206. doi:10.1007/s11060-013-1257-5
8. Bauml J, Mick R, Zhang Y, Watt CD, Vachani A, Aggarwal C, Evans T, Langer C (2013) Frequency of EGFR and KRAS mutations in patients with non small cell lung cancer by racial background: do disparities exist? Lung Cancer 81(3):347–353. doi:10.1016/j.lungcan.2013.05.011
9. Berghoff A, Ricken G, Widhalm G, Rajky O, Dieckmann K, Birner P, Bartsch R, Höller C, Preusser M (2014) Tumor infiltrating lymphocytes and expression of programmed death ligand 1 (PD-L1) in melanoma brain metastases. Histopathology (in press)
10. Burel-Vandenbos F, Ambrosetti D, Coutts M, Pedeutour F (2013) EGFR mutation status in brain metastases of non-small cell lung carcinoma. J Neurooncol 111(1):1–10. doi:10.1007/s11060-012-0990-5
11. Capper D, Preusser M, Habel A, Sahm F, Ackermann U, Schindler G, Pusch S, Mechtersheimer G, Zentgraf H, von Deimling A (2011) Assessment of BRAF V600E mutation status by immunohistochemistry with a mutation-specific monoclonal antibody. Acta Neuropathol 122(1):11–19. doi:10.1007/s00401-011-0841-z
12. Capper D, Berghoff AS, Magerle M, Ilhan A, Wohrer A, Hackl M, Pichler J, Pusch S, Meyer J, Habel A, Petzelbauer P, Birner P, von Deimling A, Preusser M (2012) Immunohistochemical testing of BRAF V600E status in 1,120 tumor tissue samples of patients with brain metastases. Acta Neuropathol 123(2):223–233. doi:10.1007/s00401-011-0887-y
13. Capper D, Berghoff AS, von Deimling A, Preusser M (2012) Clinical neuropathology practice news 2-2012: bRAF V600E testing. Clin Neuropathol 31(2):64–66
14. Cardoso F, Harbeck N, Fallowfield L, Kyriakides S, Senkus E (2012) Locally recurrent or metastatic breast cancer: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol 23(Suppl 7):711–719. doi:10.1093/annonc/mds232
15. Ceresoli GL (2012) Role of EGFR inhibitors in the treatment of central nervous system metastases from non-small cell lung cancer. Curr Cancer Drug Targets 12(3):237–246
16. Cha YJ, Lee JS, Kim HR, Lim SM, Cho BC, Lee CY, Shim HS (2014) Screening of ROS1 rearrangements in lung adenocarcinoma by immunohistochemistry and comparison with ALK rearrangements. PLoS One 9(7):e103333. doi:10.1371/journal.pone.0103333
17. Chamberlain M, Soffietti R, Raizer J, Ruda R, Brandsma D, Boogerd W, Taillibert S, Groves MD, Le Rhun E, Junck L, van den Bent M, Wen PY, Jaeckle KA (2014) Leptomeningeal metastasis: a response assessment in neuro-oncology critical review of endpoints and response criteria of published randomized clinical trials. Neuro Oncol 16(9):1176–1185. doi:10.1093/neuonc/nou089
18. Chen D, Zhang LQ, Huang JF, Liu K, Chuai ZR, Yang Z, Wang YX, Shi DC, Liu Q, Huang Q, Fu WL (2014) BRAF mutations in patients with non-small cell lung cancer: a systematic review and meta-analysis. PLoS One 9(6):e101354. doi:10.1371/journal.pone.0101354
19. Chiari R, Buttitta F, Iacono D, Bennati C, Metro G, Di Lorito A, Iezzi M, Tiseo M, Mazzoni F, Cappuzzo F, Marchetti A, Crino L (2014) Dramatic response to crizotinib in ROS1 fluorescent in situ hybridization- and immunohistochemistry-positive lung adenocarcinoma: a case series. Clin Lung Cancer. doi:10.1016/j.cllc.2014.06.004
20. Cooper W, Fox S, O’Toole S, Morey A, Frances G, Pavlakis N, O’Byrne K, Dettrick A, Leong T, Rathi V, Spagnolo D, Hemmings C, Singh M, Moffat D, Tsao MS, Wilner K, Buller R, Pitman Lowenthal S, Arifeen S, Binko J, Alam M (2014) National Working Group Meeting on ALK diagnostics in lung cancer. Asia Pac J Clin Oncol 10(Suppl 2):11–17. doi:10.1111/ajco.12190
21. Couraud S, Vaca Paniagua F, Villar S, Oliver J, Schuster T, Blanche H, Girard N, Tredaniel J, Guilleminault L, Gervais R, Prim N, Vincent M, Margery J, Larive S, Foucher P, Duvert B, Vallee M, Le Calvez-Kelm F, McKay J, Missy P, Morin F, Zalcman G, Olivier M, Souquet PJ (2014) Non-invasive diagnosis of actionable mutations by deep sequencing of circulating-free DNA in non-small cell lung cancer: findings from BioCAST/IFCT-1002. Clin Cancer Res 20(17):4613–4624. doi:10.1158/1078-0432.CCR-13-3063
22. Curtit E, Nerich V, Mansi L, Chaigneau L, Cals L, Villanueva C, Bazan F, Montcuquet P, Meneveau N, Perrin S, Algros MP, Pivot X (2013) Discordances in estrogen receptor status, progesterone receptor status, and HER2 status between primary breast cancer and metastasis. Oncologist 18(6):667–674. doi:10.1634/theoncologist.2012-0350
23. Cutz JC, Craddock KJ, Torlakovic E, Brandao G, Carter RF, Bigras G, Deschenes J, Izevbaye I, Xu Z, Greer W, Yatabe Y, Ionescu D, Karsan A, Jung S, Fraser RS, Blumenkrantz M, Lavoie J, Fortin F, Bojarski A, Cote GB, van den Berghe JA, Rashid-Kolvear F, Trotter M, Sekhon HS, Albadine R, Tran-Thanh D, Gorska I, Knoll JH, Xu J, Blencowe B, Iafrate AJ, Hwang DM, Pintilie M, Gaspo R, Couture C, Tsao MS (2014) Canadian anaplastic lymphoma kinase study: a model for multicenter standardization and optimization of ALK testing in lung cancer. J Thorac Oncol 9(9):1255–1263. doi:10.1097/JTO.0000000000000239
24. Duchnowska R, Dziadziuszko R, Trojanowski T, Mandat T, Och W, Czartoryska-Arlukowicz B, Radecka B, Olszewski W, Szubstarski F, Kozlowski W, Jarosz B, Rogowski W, Kowalczyk A, Limon J, Biernat W, Jassem J (2012) Conversion of epidermal growth factor receptor 2 and hormone receptor expression in breast cancer metastases to the brain. Breast Cancer Res 14(4):R119. doi:10.1186/bcr3244
25. Dummer R, Hauschild A, Guggenheim M, Keilholz U, Pentheroudakis G (2012) Cutaneous melanoma: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol 23(Suppl 7):786–791. doi:10.1093/annonc/mds229
26. Dummer R, Goldinger SM, Turtschi CP, Eggmann NB, Michielin O, Mitchell L, Veronese L, Hilfiker PR, Felderer L, Rinderknecht JD (2014) Vemurafenib in patients with BRAF(V600) mutation-positive melanoma with symptomatic brain metastases: final results of an open-label pilot study. Eur J Cancer 50(3):611–621. doi:10.1016/j.ejca.2013.11.002
27. Escudier B, Eisen T, Porta C, Patard JJ, Khoo V, Algaba F, Mulders P, Kataja V (2012) Renal cell carcinoma: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol 23(Suppl 7):765–771. doi:10.1093/annonc/mds227
28. Fizazi K, Greco FA, Pavlidis N, Pentheroudakis G (2011) Cancers of unknown primary site: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol 22(Suppl 6):664–668. doi:10.1093/annonc/mdr389
29. Flaherty KT, Infante JR, Daud A, Gonzalez R, Kefford RF, Sosman J, Hamid O, Schuchter L, Cebon J, Ibrahim N, Kudchadkar R, Burris HA 3rd, Falchook G, Algazi A, Lewis K, Long GV, Puzanov I, Lebowitz P, Singh A, Little S, Sun P, Allred A, Ouellet D, Kim KB, Patel K, Weber J (2012) Combined BRAF and MEK inhibition in melanoma with BRAF V600 mutations. N Engl J Med 367(18):1694–1703. doi:10.1056/NEJMoa1210093
30. Fruh M, De Ruysscher D, Popat S, Crino L, Peters S, Felip E (2013) Small-cell lung cancer (SCLC): ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol 24(Suppl 6):vi99–vi105. doi:10.1093/annonc/mdt178
31. Gavin PG, Colangelo LH, Fumagalli D, Tanaka N, Remillard MY, Yothers G, Kim C, Taniyama Y, Kim SI, Choi HJ, Blackmon NL, Lipchik C, Petrelli NJ, O’Connell MJ, Wolmark N, Paik S, Pogue-Geile KL (2012) Mutation profiling and microsatellite instability in stage II and III colon cancer: an assessment of their prognostic and oxaliplatin predictive value. Clin Cancer Res 18(23):6531–6541. doi:10.1158/1078-0432.CCR-12-0605
32. Gessi M, Hammes J, Lauriola L, Dorner E, Kirfel J, Kristiansen G, zur Muehlen A, Denkhaus D, Waha A, Pietsch T (2013) GNA11 and N-RAS mutations: alternatives for MAPK pathway activating GNAQ mutations in primary melanocytic tumours of the central nervous system. Neuropathol Appl Neurobiol 39(4):417–425. doi:10.1111/j.1365-2990.2012.01288.x
33. Goldhirsch A, Winer EP, Coates AS, Gelber RD, Piccart-Gebhart M, Thurlimann B, Senn HJ (2013) Personalizing the treatment of women with early breast cancer: highlights of the St Gallen International Expert Consensus on the Primary Therapy of Early Breast Cancer 2013. Ann Oncol 24(9):2206–2223. doi:10.1093/annonc/mdt303
34. Gow CH, Chang YL, Hsu YC, Tsai MF, Wu CT, Yu CJ, Yang CH, Lee YC, Yang PC, Shih JY (2009) Comparison of epidermal growth factor receptor mutations between primary and corresponding metastatic tumors in tyrosine kinase inhibitor-naive non-small-cell lung cancer. Ann Oncol 20(4):696–702. doi:10.1093/annonc/mdn679
35. Hainsworth JD, Rubin MS, Spigel DR, Boccia RV, Raby S, Quinn R, Greco FA (2013) Molecular gene expression profiling to predict the tissue of origin and direct site-specific therapy in patients with carcinoma of unknown primary site: a prospective trial of the Sarah Cannon research institute. J Clin Oncol 31(2):217–223. doi:10.1200/JCO.2012.43.3755
36. Hechtman JF, Polydorides AD (2012) HER2/neu gene amplification and protein overexpression in gastric and gastroesophageal junction adenocarcinoma: a review of histopathology, diagnostic testing, and clinical implications. Arch Pathol Lab Med 136(6):691–697. doi:10.5858/arpa.2011-0168-RS
37. Hodgkinson CL, Morrow CJ, Li Y, Metcalf RL, Rothwell DG, Trapani F, Polanski R, Burt DJ, Simpson KL, Morris K, Pepper SD, Nonaka D, Greystoke A, Kelly P, Bola B, Krebs MG, Antonello J, Ayub M, Faulkner S, Priest L, Carter L, Tate C, Miller CJ, Blackhall F, Brady G, Dive C (2014) Tumorigenicity and genetic profiling of circulating tumor cells in small-cell lung cancer. Nat Med 20(8):897–903. doi:10.1038/nm.3600
38. Houang M, Toon CW, Clarkson A, Sioson L, Watson N, Farzin M, Selinger CI, Chou A, Morey AL, Cooper WA, O’Toole SA, Gill AJ (2014) Reflex ALK immunohistochemistry is feasible and highly specific for ALK gene rearrangements in lung cancer. Pathology 46(5):383–388. doi:10.1097/PAT.0000000000000114
39. Hutarew G, Hauser-Kronberger C, Strasser F, Llenos IC, Dietze O (2014) Immunohistochemistry as a screening tool for ALK rearrangement in NSCLC. Histopathology. doi:10.1111/his.12399
40. Jonker DJ, O’Callaghan CJ, Karapetis CS, Zalcberg JR, Tu D, Au HJ, Berry SR, Krahn M, Price T, Simes RJ, Tebbutt NC, van Hazel G, Wierzbicki R, Langer C, Moore MJ (2007) Cetuximab for the treatment of colorectal cancer. N Engl J Med 357(20):2040–2048. doi:10.1056/NEJMoa071834
41. Kaneda H, Okamoto I, Nakagawa K (2013) Rapid response of brain metastasis to crizotinib in a patient with ALK rearrangement-positive non-small-cell lung cancer. J Thorac Oncol 8(4):e32–e33. doi:10.1097/JTO.0b013e3182843771
42. Kusters-Vandevelde HV, Klaasen A, Kusters B, Groenen PJ, van Engen-van Grunsven IA, van Dijk MR, Reifenberger G, Wesseling P, Blokx WA (2010) Activating mutations of the GNAQ gene: a frequent event in primary melanocytic neoplasms of the central nervous system. Acta Neuropathol 119(3):317–323. doi:10.1007/s00401-009-0611-3
43. Larsen PB, Kumler I, Nielsen DL (2013) A systematic review of trastuzumab and lapatinib in the treatment of women with brain metastases from HER2-positive breast cancer. Cancer Treat Rev 39(7):720–727. doi:10.1016/j.ctrv.2013.01.006
44. Lien EA, Wester K, Lonning PE, Solheim E, Ueland PM (1991) Distribution of tamoxifen and metabolites into brain tissue and brain metastases in breast cancer patients. Br J Cancer 63(4):641–645
45. Lin NU (2010) Concordance of HER2 in primary tumor and leptomeningeal metastases: now what? Breast Cancer Res Treat 123(1):129–131. doi:10.1007/s10549-009-0720-7
46. Long GV, Wilmott JS, Capper D, Preusser M, Zhang YE, Thompson JF, Kefford RF, von Deimling A, Scolyer RA (2013) Immunohistochemistry is highly sensitive and specific for the detection of V600E BRAF mutation in melanoma. Am J Surg Pathol 37(1):61–65. doi:10.1097/PAS.0b013e31826485c0
47. Long GV, Trefzer U, Davies MA, Kefford RF, Ascierto PA, Chapman PB, Puzanov I, Hauschild A, Robert C, Algazi A, Mortier L, Tawbi H, Wilhelm T, Zimmer L, Switzky J, Swann S, Martin AM, Guckert M, Goodman V, Streit M, Kirkwood JM, Schadendorf D (2012) Dabrafenib in patients with Val600Glu or Val600Lys BRAF-mutant melanoma metastatic to the brain (BREAK-MB): a multicentre, open-label, phase 2 trial. Lancet Oncol 13(11):1087–1095. doi:10.1016/S1470-2045(12)70431-X
48. Martin-Algarra S, Fernandez-Figueras MT, Lopez-Martin JA, Santos-Briz A, Arance A, Lozano MD, Berrocal A, Rios-Martin JJ, Espinosa E, Rodriguez-Peralto JL (2013) Guidelines for biomarker testing in metastatic melanoma: a National Consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology. Clin Transl Oncol 16(4):362–373. doi:10.1007/s12094-013-1090-5
49. Matsumoto S, Takahashi K, Iwakawa R, Matsuno Y, Nakanishi Y, Kohno T, Shimizu E, Yokota J (2006) Frequent EGFR mutations in brain metastases of lung adenocarcinoma. Int J Cancer 119(6):1491–1494. doi:10.1002/ijc.21940
50. McArthur GA, Chapman PB, Robert C, Larkin J, Haanen JB, Dummer R, Ribas A, Hogg D, Hamid O, Ascierto PA, Garbe C, Testori A, Maio M, Lorigan P, Lebbe C, Jouary T, Schadendorf D, O’Day SJ, Kirkwood JM, Eggermont AM, Dreno B, Sosman JA, Flaherty KT, Yin M, Caro I, Cheng S, Trunzer K, Hauschild A (2014) 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 15(3):323–332. doi:10.1016/S1470-2045(14)70012-9
51. Menzies AM, Lum T, Wilmott JS, Hyman J, Kefford RF, Thompson JF, O’Toole S, Long GV, Scolyer RA (2014) Intrapatient homogeneity of BRAFV600E expression in melanoma. Am J Surg Pathol 38(3):377–382. doi:10.1097/PAS.0000000000000136
52. Mittendorf EA, Philips AV, Meric-Bernstam F, Qiao N, Wu Y, Harrington S, Su X, Wang Y, Gonzalez-Angulo AM, Akcakanat A, Chawla A, Curran M, Hwu P, Sharma P, Litton JK, Molldrem JJ, Alatrash G (2014) PD-L1 expression in triple-negative breast cancer. Cancer Immunol Res 2(4):361–370. doi:10.1158/2326-6066.CIR-13-0127
53. Murali R, Wiesner T, Rosenblum MK, Bastian BC (2012) GNAQ and GNA11 mutations in melanocytomas of the central nervous system. Acta Neuropathol 123(3):457–459. doi:10.1007/s00401-012-0948-x
54. Nabors LB, Ammirati M, Bierman PJ, Brem H, Butowski N, Chamberlain MC, DeAngelis LM, Fenstermaker RA, Friedman A, Gilbert MR, Hesser D, Holdhoff M, Junck L, Lawson R, Loeffler JS, Maor MH, Moots PL, Morrison T, Mrugala MM, Newton HB, Portnow J, Raizer JJ, Recht L, Shrieve DC, Sills AK Jr, Tran D, Tran N, Vrionis FD, Wen PY, McMillian N, Ho M (2013) Central nervous system cancers. J Natl Compr Cancer Netw 11(9):1114–1151
55. Nayak L, Lee EQ, Wen PY (2012) Epidemiology of brain metastases. Curr Oncol Rep 14(1):48–54. doi:10.1007/s11912-011-0203-y
56. Niikura N, Liu J, Hayashi N, Mittendorf EA, Gong Y, Palla SL, Tokuda Y, Gonzalez-Angulo AM, Hortobagyi GN, Ueno NT (2012) Loss of human epidermal growth factor receptor 2 (HER2) expression in metastatic sites of HER2-overexpressing primary breast tumors. J Clin Oncol 30(6):593–599. doi:10.1200/JCO.2010.33.8889
57. Niikura N, Hayashi N, Masuda N, Takashima S, Nakamura R, Watanabe K, Kanbayashi C, Ishida M, Hozumi Y, Tsuneizumi M, Kondo N, Naito Y, Honda Y, Matsui A, Fujisawa T, Oshitanai R, Yasojima H, Tokuda Y, Saji S, Iwata H (2014) Treatment outcomes and prognostic factors for patients with brain metastases from breast cancer of each subtype: a multicenter retrospective analysis. Breast Cancer Res Treat 147(1):103–112. doi:10.1007/s10549-014-3090-8
58. Owonikoko TK, Arbiser J, Zelnak A, Shu HK, Shim H, Robin AM, Kalkanis SN, Whitsett TG, Salhia B, Tran NL, Ryken T, Moore MK, Egan KM, Olson JJ (2014) Current approaches to the treatment of metastatic brain tumours. Nat Rev Clin Oncol 11(4):203–222. doi:10.1038/nrclinonc.2014.25
59. Pal SK, Hu A, Chang M, Figlin RA (2014) Programmed death-1 inhibition in renal cell carcinoma: clinical insights and future directions. Clin Adv Hematol Oncol 12(2):90–99
60. Park IH, Kwon Y, Ro JY, Lee KS, Ro J (2010) Concordant HER2 status between metastatic breast cancer cells in CSF and primary breast cancer tissue. Breast Cancer Res Treat 123(1):125–128. doi:10.1007/s10549-009-0627-3
61. Peled N, Zach L, Liran O, Ilouze M, Bunn PA Jr, Hirsch FR (2013) Effective crizotinib schedule for brain metastases in ALK rearrangement metastatic non-small-cell lung cancer. J Thorac Oncol 8(12):e112–e113. doi:10.1097/JTO.0000000000000038
62. Perou CM, Sorlie T, Eisen MB, van de Rijn M, Jeffrey SS, Rees CA, Pollack JR, Ross DT, Johnsen H, Akslen LA, Fluge O, Pergamenschikov A, Williams C, Zhu SX, Lonning PE, Borresen-Dale AL, Brown PO, Botstein D (2000) Molecular portraits of human breast tumours. Nature 406(6797):747–752. doi:10.1038/35021093
63. Peters S, Adjei AA, Gridelli C, Reck M, Kerr K, Felip E (2012) Metastatic non-small-cell lung cancer (NSCLC): ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol 23(Suppl 7):756–764. doi:10.1093/annonc/mds226
64. Pflugfelder A, Kochs C, Blum A, Capellaro M, Czeschik C, Dettenborn T, Dill D, Dippel E, Eigentler T, Feyer P, Follmann M, Frerich B, Ganten MK, Gartner J, Gutzmer R, Hassel J, Hauschild A, Hohenberger P, Hubner J, Kaatz M, Kleeberg UR, Kolbl O, Kortmann RD, Krause-Bergmann A, Kurschat P, Leiter U, Link H, Loquai C, Loser C, Mackensen A, Meier F, Mohr P, Mohrle M, Nashan D, Reske S, Rose C, Sander C, Satzger I, Schiller M, Schlemmer HP, Strittmatter G, Sunderkotter C, Swoboda L, Trefzer U, Voltz R, Vordermark D, Weichenthal M, Werner A, Wesselmann S, Weyergraf AJ, Wick W, Garbe C, Schadendorf D (2013) Malignant melanoma S3-guideline “diagnosis, therapy and follow-up of melanoma”. J der Deutschen Dermatol Ges 11(Suppl 6):1–116, 111–126. doi:10.1111/ddg.12113_suppl
65. Piccart-Gebhart MJ, Procter M, Leyland-Jones B, Goldhirsch A, Untch M, Smith I, Gianni L, Baselga J, Bell R, Jackisch C, Cameron D, Dowsett M, Barrios CH, Steger G, Huang CS, Andersson M, Inbar M, Lichinitser M, Lang I, Nitz U, Iwata H, Thomssen C, Lohrisch C, Suter TM, Ruschoff J, Suto T, Greatorex V, Ward C, Straehle C, McFadden E, Dolci MS, Gelber RD (2005) Trastuzumab after adjuvant chemotherapy in HER2-positive breast cancer. N Engl J Med 353(16):1659–1672. doi:10.1056/NEJMoa052306
66. Pickren J, Lopez G, Tsukada Y, Lane W (1983) Brain metastases: an autopsy study. Cancer Treat Symp 2:295–313
67. Pinhel I, Hills M, Drury S, Salter J, Sumo G, A’Hern R, Bliss JM, Sestak I, Cuzick J, Barrett-Lee P, Harris A, Dowsett M (2012) ER and HER2 expression are positively correlated in HER2 non-overexpressing breast cancer. Breast Cancer Res 14(2):R46. doi:10.1186/bcr3145
68. Preusser M, Winkler F, Collette L, Haller S, Marreaud S, Soffietti R, Klein M, Reijneveld JC, Tonn JC, Baumert BG, Mulvenna P, Schadendorf D, Duchnowska R, Berghoff AS, Lin N, Cameron DA, Belkacemi Y, Jassem J, Weber DC (2012) Trial design on prophylaxis and treatment of brain metastases: lessons learned from the EORTC Brain Metastases Strategic Meeting 2012. Eur J Cancer 48(18):3439–3447. doi:10.1016/j.ejca.2012.07.002
69. Preusser M, Berghoff AS, Ilhan-Mutlu A, Dinhof C, Magerle M, Marosi C, Hejna M, Capper D, VOND A, Schoppmann SF, Birner P (2013) Brain metastases of gastro-oesophageal cancer: evaluation of molecules with relevance for targeted therapies. Anticancer Res 33(3):1065–1071
70. Preusser M, Berghoff AS, Schadendorf D, Lin NU, Stupp R (2012) Brain metastasis: opportunity for drug development? Curr Opin Neurol 25(6):786–794. doi:10.1097/WCO.0b013e328359320d
71. Preusser M, Berghoff AS, Ilhan-Mutlu A, Magerle M, Dinhof C, Widhalm G, Dieckmann K, Marosi C, Wohrer A, Hackl M, Zochbauer-Muller S, von Deimling A, Schoppmann SF, Zielinski CC, Streubel B, Birner P (2013) ALK gene translocations and amplifications in brain metastases of non-small cell lung cancer. Lung Cancer 80(3):278–283. doi:10.1016/j.lungcan.2013.01.019
72. Preusser M, Capper D, Ilhan-Mutlu A, Berghoff AS, Birner P, Bartsch R, Marosi C, Zielinski C, Mehta MP, Winkler F, Wick W, von Deimling A (2012) Brain metastases: pathobiology and emerging targeted therapies. Acta Neuropathol 123(2):205–222. doi:10.1007/s00401-011-0933-9
73. Preusser M, Berghoff AS, Berger W, Ilhan-Mutlu A, Dinhof C, Widhalm G, Dieckmann K, Wohrer A, Hackl M, von Deimling A, Streubel B, Birner P (2014) High rate of FGFR1 amplifications in brain metastases of squamous and non-squamous lung cancer. Lung Cancer 83(1):83–89. doi:10.1016/j.lungcan.2013.10.004
74. Preusser M, Streubel B, Birner P (2014) ROS1 translocations and amplifications in lung cancer brain metastases. J Neurooncol 118(2):425–426. doi:10.1007/s11060-014-1446-x
75. Preusser M, Streubel B, Berghoff AS, Hainfellner JA, von Deimling A, Widhalm G, Dieckmann K, Wohrer A, Hackl M, Zielinski C, Birner P (2014) Amplification and overexpression of CMET is a common event in brain metastases of non-small cell lung cancer. Histopathology. doi:10.1111/his.12475
76. Rades D, Nadrowitz R, Buchmann I, Hunold P, Noack F, Schild SE, Meller B (2010) Radiolabeled cetuximab plus whole-brain irradiation (WBI) for the treatment of brain metastases from non-small cell lung cancer (NSCLC). Strahlenther Onkol 186(8):458–462. doi:10.1007/s00066-010-2153-y
77. Reuter VE, Argani P, Zhou M, Delahunt B, Members of the IIiDUPG (2014) Best practices recommendations in the application of immunohistochemistry in the kidney tumors: report from the international society of urologic pathology consensus conference. Am J Surg Pathol 38(8):e35–e49. doi:10.1097/PAS.0000000000000258
78. Romond EH, Perez EA, Bryant J, Suman VJ, Geyer CE Jr, Davidson NE, Tan-Chiu E, Martino S, Paik S, Kaufman PA, Swain SM, Pisansky TM, Fehrenbacher L, Kutteh LA, Vogel VG, Visscher DW, Yothers G, Jenkins RB, Brown AM, Dakhil SR, Mamounas EP, Lingle WL, Klein PM, Ingle JN, Wolmark N (2005) Trastuzumab plus adjuvant chemotherapy for operable HER2-positive breast cancer. N Engl J Med 353(16):1673–1684. doi:10.1056/NEJMoa052122
79. Schmoll HJ, Van Cutsem E, Stein A, Valentini V, Glimelius B, Haustermans K, Nordlinger B, van de Velde CJ, Balmana J, Regula J, Nagtegaal ID, Beets-Tan RG, Arnold D, Ciardiello F, Hoff P, Kerr D, Kohne CH, Labianca R, Price T, Scheithauer W, Sobrero A, Tabernero J, Aderka D, Barroso S, Bodoky G, Douillard JY, El Ghazaly H, Gallardo J, Garin A, Glynne-Jones R, Jordan K, Meshcheryakov A, Papamichail D, Pfeiffer P, Souglakos I, Turhal S, Cervantes A (2012) ESMO consensus guidelines for management of patients with colon and rectal cancer A personalized approach to clinical decision making. Ann Oncol 23(10):2479–2516. doi:10.1093/annonc/mds236
80. Scolyer RA, Judge MJ, Evans A, Frishberg DP, Prieto VG, Thompson JF, Trotter MJ, Walsh MY, Walsh NM, Ellis DW (2013) Data set for pathology reporting of cutaneous invasive melanoma: recommendations from the international collaboration on cancer reporting (ICCR). Am J Surg Pathol 37(12):1797–1814. doi:10.1097/PAS.0b013e31829d7f35
81. Shi Y, Au JS, Thongprasert S, Srinivasan S, Tsai CM, Khoa MT, Heeroma K, Itoh Y, Cornelio G, Yang PC (2014) A prospective, molecular epidemiology study of EGFR mutations in Asian patients with advanced non-small-cell lung cancer of adenocarcinoma histology (PIONEER). J Thorac Oncol 9(2):154–162. doi:10.1097/JTO.0000000000000033
82. Soda M, Choi YL, Enomoto M, Takada S, Yamashita Y, Ishikawa S, Fujiwara S, Watanabe H, Kurashina K, Hatanaka H, Bando M, Ohno S, Ishikawa Y, Aburatani H, Niki T, Sohara Y, Sugiyama Y, Mano H (2007) Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer. Nature 448(7153):561–566. doi:10.1038/nature05945
83. Stahl M, Mariette C, Haustermans K, Cervantes A, Arnold D (2013) Oesophageal cancer: ESMO clinical practice guidelines for diagnosis, treatment and follow-up. Ann Oncol 24(Suppl 6):651–656. doi:10.1093/annonc/mdt342
84. Sun M, Behrens C, Feng L, Ozburn N, Tang X, Yin G, Komaki R, Varella-Garcia M, Hong WK, Aldape KD, Wistuba II (2009) HER family receptor abnormalities in lung cancer brain metastases and corresponding primary tumors. Clin Cancer Res 15(15):4829–4837. doi:10.1158/1078-0432.CCR-08-2921
85. Sundar R, Soong R, Cho BC, Brahmer JR, Soo RA (2014) Immunotherapy in the treatment of non-small cell lung cancer. Lung Cancer 85(2):101–109. doi:10.1016/j.lungcan.2014.05.005
86. Takakura K, Sano K, Hojo S, Hirano A (1982) Metastatic tumors of the central nervous system. Igaku-Shoin, Tokyo
87. Thierry AR, Mouliere F, El Messaoudi S, Mollevi C, Lopez-Crapez E, Rolet F, Gillet B, Gongora C, Dechelotte P, Robert B, Del Rio M, Lamy PJ, Bibeau F, Nouaille M, Loriot V, Jarrousse AS, Molina F, Mathonnet M, Pezet D, Ychou M (2014) Clinical validation of the detection of KRAS and BRAF mutations from circulating tumor DNA. Nat Med 20(4):430–435. doi:10.1038/nm.3511
88. Thompson AM, Jordan LB, Quinlan P, Anderson E, Skene A, Dewar JA, Purdie CA (2010) Prospective comparison of switches in biomarker status between primary and recurrent breast cancer: the breast recurrence in tissues study (BRITS). Breast Cancer Res 12(6):R92. doi:10.1186/bcr2771
89. Ulivi P, Zoli W, Capelli L, Chiadini E, Calistri D, Amadori D (2013) Target therapy in NSCLC patients: relevant clinical agents and tumour molecular characterisation. Mol Clin Oncol 1(4):575–581. doi:10.3892/mco.2013.100
90. Van Cutsem E, Bang YJ, Feng-Yi F, Xu JM, Lee KW, Jiao SC, Chong JL, Lopez-Sanchez RI, Price T, Gladkov O, Stoss O, Hill J, Ng V, Lehle M, Thomas M, Kiermaier A, Ruschoff J (2014) HER2 screening data from ToGA: targeting HER2 in gastric and gastroesophageal junction cancer. Gastric Cancer. doi:10.1007/s10120-014-0402-y
91. van Kruchten M, de Vries EG, Brown M, de Vries EF, Glaudemans AW, Dierckx RA, Schroder CP, Hospers GA (2013) PET imaging of oestrogen receptors in patients with breast cancer. Lancet Oncol 14(11):e465–e475. doi:10.1016/S1470-2045(13)70292-4
92. Waddell T, Verheij M, Allum W, Cunningham D, Cervantes A, Arnold D (2014) Gastric cancer: ESMO-ESSO-ESTRO clinical practice guidelines for diagnosis, treatment and follow-up. Radiother Oncol 110(1):189–194. doi:10.1016/j.radonc.2013.09.015
93. Welsh JW, Komaki R, Amini A, Munsell MF, Unger W, Allen PK, Chang JY, Wefel JS, McGovern SL, Garland LL, Chen SS, Holt J, Liao Z, Brown P, Sulman E, Heymach JV, Kim ES, Stea B (2013) Phase II trial of erlotinib plus concurrent whole-brain radiation therapy for patients with brain metastases from non-small-cell lung cancer. J Clin Oncol 31(7):895–902. doi:10.1200/JCO.2011.40.1174
94. Wolchok JD, Kluger H, Callahan MK, Postow MA, Rizvi NA, Lesokhin AM, Segal NH, Ariyan CE, Gordon RA, Reed K, Burke MM, Caldwell A, Kronenberg SA, Agunwamba BU, Zhang X, Lowy I, Inzunza HD, Feely W, Horak CE, Hong Q, Korman AJ, Wigginton JM, Gupta A, Sznol M (2013) Nivolumab plus ipilimumab in advanced melanoma. N Engl J Med 369(2):122–133. doi:10.1056/NEJMoa1302369
95. Wolff AC, Hammond ME, Hicks DG, Dowsett M, McShane LM, Allison KH, Allred DC, Bartlett JM, Bilous M, Fitzgibbons P, Hanna W, Jenkins RB, Mangu PB, Paik S, Perez EA, Press MF, Spears PA, Vance GH, Viale G, Hayes DF (2013) Recommendations for human epidermal growth factor receptor 2 testing in breast cancer: American Society of Clinical Oncology/College of American Pathologists clinical practice guideline update. J Clin Oncol 31(31):3997–4013. doi:10.1200/JCO.2013.50.9984
96. Wynes MW, Sholl LM, Dietel M, Schuuring E, Tsao MS, Yatabe Y, Tubbs RR, Hirsch FR (2014) An international interpretation study using the ALK IHC antibody D5F3 and a sensitive detection kit demonstrates high concordance between ALK IHC and ALK FISH and between evaluators. J Thorac Oncol 9(5):631–638. doi:10.1097/JTO.0000000000000115
97. Yi ES, Boland JM, Maleszewski JJ, Roden AC, Oliveira AM, Aubry MC, Erickson-Johnson MR, Caron BL, Li Y, Tang H, Stoddard S, Wampfler J, Kulig K, Yang P (2011) Correlation of IHC and FISH for ALK gene rearrangement in non-small cell lung carcinoma: IHC score algorithm for FISH. J Thorac Oncol 6(3):459–465. doi:10.1097/JTO.0b013e318209edb9
98. Yoshioka Y, Kosaka N, Konishi Y, Ohta H, Okamoto H, Sonoda H, Nonaka R, Yamamoto H, Ishii H, Mori M, Furuta K, Nakajima T, Hayashi H, Sugisaki H, Higashimoto H, Kato T, Takeshita F, Ochiya T (2014) Ultra-sensitive liquid biopsy of circulating extracellular vesicles using ExoScreen. Nat Commun 5:3591. doi:10.1038/ncomms4591
99. Zagouri F, Sergentanis TN, Bartsch R, Berghoff AS, Chrysikos D, de Azambuja E, Dimopoulos MA, Preusser M (2013) Intrathecal administration of trastuzumab for the treatment of meningeal carcinomatosis in HER2-positive metastatic breast cancer: a systematic review and pooled analysis. Breast Cancer Res Treat 139(1):13–22. doi:10.1007/s10549-013-2525-y