Evaluation of BRAF mutation testing methodologies in formalin-fixed, paraffin-embedded cutaneous melanomas

Journal of Molecular Diagnostics

Volumn 15, Issue 1, 2013, Pages 70-80

  Lade Keller, Johanne ^a   Rømer, Kirsten M ^b   Guldberg, Per ^c   Riber Hansen, Rikke ^a   Hansen, Lise Lotte ^b   Steiniche, Torben ^a   Hager, Henrik ^a   Kristensen, Lasse S ^b  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b AARHUS UNIVERSITY   (Denmark)

^c DANISH CANCER SOCIETY RESEARCH CENTER   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; DABRAFENIB; FORMALDEHYDE; PARAFFIN; VEMURAFENIB;

ADULT; ARTICLE; CLINICAL ARTICLE; CUTANEOUS MELANOMA; FEMALE; GENE FREQUENCY; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; PATIENT SELECTION; POLYMERASE CHAIN REACTION; PYROSEQUENCING; TUMOR CELL;

EID: 84875416383     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2012.08.003     Document Type: Article

References (26)

1. Balch CM, Gershenwald JE, Soong SJ, Thompson JF, Atkins MB, Byrd DR, Buzaid AC, Cochran AJ, Coit DG, Ding S, Eggermont AM, Flaherty KT, Gimotty PA, Kirkwood JM, McMasters KM, Mihm MC Jr, Morton DL, Ross MI, Sober AJ, Sondak VK: Final version of 2009 AJCC melanoma staging and classification. J Clin Oncol 2009, 27:6199-6206
2. Davies MA, Gershenwald JE: Targeted therapy for melanoma: a primer. Surg Oncol Clin N Am 2011, 20:165-180
3. Bogenrieder T, Herlyn M: The molecular pathology of cutaneous melanoma. Cancer Biomark 2011, 9:267-286
4. Eggermont AM, Robert C: New drugs in melanoma: It's a whole new world. Eur J Cancer 2011, 47:2150-2157
5. Chapman PB, Hauschild A, Robert C, Haanen JB, Ascierto P, Larkin J, Dummer R, Garbe C, Testori A, Maio M, Hogg D, Lorigan P, Lebbe C, Jouary T, Schadendorf D, Ribas A, O'Day SJ, Sosman JA, Kirkwood JM, Eggermont AM, Dreno B, Nolop K, Li J, Nelson B, Hou J, Lee RJ, Flaherty KT, McArthur GA, the BRIM-3 Study Group: Improved Survival with Vemurafenib in Melanoma with BRAF V600E Mutation. N Engl J Med 2011, 364:2507-2516
6. Kefford R, Arkenau H, Brown MP, Millward M, Infante JR, Long GV, Ouellet D, Curtis M, Lebowitz PF, Falchook GS: Phase I/II study of GSK2118436, a selective inhibitor of oncogenic mutant BRAF kinase, in patients with metastatic melanoma and other solid tumors (abstract). J Clin Oncol 2010, 28:8503
7. Sosman JA, Kim KB, Schuchter L, Gonzalez R, Pavlick AC, Weber JS, McArthur GA, Hutson TE, Moschos SJ, Flaherty KT, Hersey P, Kefford R, Lawrence D, Puzanov I, Lewis KD, Amaravadi RK, Chmielowski B, Lawrence HJ, Shyr Y, Ye F, Li J, Nolop KB, Lee RJ, Joe AK, Ribas A: Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib. N Engl J Med 2012, 366:707-714
8. 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
9. Hatzivassiliou G, Song K, Yen I, Brandhuber BJ, Anderson DJ, Alvarado R, Ludlam MJ, Stokoe D, Gloor SL, Vigers G, Morales T, Aliagas I, Liu B, Sideris S, Hoeflich KP, Jaiswal BS, Seshagiri S, Koeppen H, Belvin M, Friedman LS, Malek S: RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth. Nature 2010, 464:431-435
10. Heidorn SJ, Milagre C, Whittaker S, Nourry A, Niculescu-Duvas I, Dhomen N, Hussain J, Reis-Filho JS, Springer CJ, Pritchard C, Marais R: Kinase-dead BRAF and oncogenic RAS cooperate to drive tumor progression through CRAF. Cell 2010, 140:209-221
11. Flaherty KT, Puzanov I, Kim KB, Ribas A, McArthur GA, Sosman JA, O'Dwyer PJ, Lee RJ, Grippo JF, Nolop K, Chapman PB: Inhibition of mutated, activated BRAF in metastatic melanoma. N Engl J Med 2010, 363:809-819
12. Ribas A, Kim KB, Schuchter LM, Gonzalez R, Pavlick AC, Weber JS, McArthur GA, Hutson TE, Flaherty KT, Moschos SJ, Lawrence DP, Hersey P, Kefford RF, Chmielowski B, Puzanov I, Li J, Nolop KB, Lee RJ, Joe AK, Sosman JA: BRIM-2: An open-label, multicenter phase II study of vemurafenib in previously treated patients with BRAF V600E mutation-positive metastatic melanoma (abstract). J Clin Oncol 2011, 29:8509
13. Lee JH, Choi JW, Kim YS: Frequencies of BRAF and NRAS mutations are different in histological types and sites of origin of cutaneous melanoma: a meta-analysis. Br J Dermatol 2011, 164:776-784
14. Yancovitz M, Litterman A, Yoon J, Ng E, Shapiro RL, Berman RS, Pavlick AC, Darvishian F, Christos P, Mazumdar M, Osman I, Polsky D: Intra-and inter-tumor heterogeneity of BRAF(V600E)mutations in primary and metastatic melanoma. PLoS One 2012, 7:e29336
15. Kristensen LS, Daugaard IL, Christensen M, Hamilton-Dutoit S, Hager H, Hansen LL: Increased sensitivity of KRAS mutation detection by high-resolution melting analysis of COLD-PCR products. Hum Mutat 2010, 31:1366-1373
16. Li J, Wang L, Mamon H, Kulke MH, Berbeco R, Makrigiorgos GM: Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing. Nat Med 2008, 14: 579-584
17. Stadelmeyer E, Heitzer E, Wolf P, Dandachi N: COLD-HRM PCR versus conventional HRM PCR to detect the BRAF V600E mutation A real improvement? J Mol Diagn 2011, 13:243. author reply 244
18. Kristensen LS, Andersen GB, Hager H, Hansen LL: Competitive amplification of differentially melting amplicons (CADMA) enables sensitive and direct detection of all mutation types by high-resolution melting analysis. Hum Mutat 2012, 33:264-271
19. Halait H, Demartin K, Shah S, Soviero S, Langland R, Cheng S, Hillman G, Wu L, Lawrence HJ: 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, 21:1-8
20. Anderson S, Bloom KJ, Vallera DU, Rueschoff J, Meldrum C, Schilling R, Kovach B, Lee JR, Ochoa P, Langland R, Halait H, Lawrence HJ, Dugan MC: 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: 1385-1391
21. Christensen C, Guldberg P: Growth factors rescue cutaneous melanoma cells from apoptosis induced by knockdown of mutated (V 600 E) B-RAF. Oncogene 2005, 24:6292-6302
22. Lang AH, Drexel H, Geller-Rhomberg S, Stark N, Winder T, Geiger K, Muendlein A: Optimized allele-specific real-time PCR assays for the detection of common mutations in KRAS and BRAF. J Mol Diagn 2011, 13:23-28
23. Landis JR, Koch GG: The measurement of observer agreement for categorical data. Biometrics 1977, 33:159-174
24. Uribe P, Wistuba II, Gonzalez S: BRAF mutation: a frequent event in benign, atypical, and malignant melanocytic lesions of the skin. Am J Dermatopathol 2003, 25:365-370
25. Pollock PM, Harper UL, Hansen KS, Yudt LM, Stark M, Robbins CM, Moses TY, Hostetter G, Wagner U, Kakareka J, Salem G, Pohida T, Heenan P, Duray P, Kallioniemi O, Hayward NK, Trent JM, Meltzer PS: High frequency of BRAF mutations in nevi. Nat Genet 2003, 33:19-20
26. Milbury CA, Li J, Makrigiorgos GM: PCR-based methods for the enrichment of minority alleles and mutations. Clin Chem 2009, 55: 632-640