The clinical response to vemurafenib in a patient with a rare BRAFV600DK601del mutation-positive melanoma

BMC Cancer

Volumn 14, Issue 1, 2014, Pages

  Trudel, Stéphanie ^a,b   Odolczyk, Norbert ^c   Dremaux, Julie ^a,b   Toffin, Jérôme ^a   Regnier, Aline ^b   Sevestre, Henri ^a   Zielenkiewicz, Piotr ^c,d   Arnault, Jean Philippe ^a   Gubler, Brigitte ^a,b  

^a AMIENS UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE PICARDIE JULES VERNE   (France)

^c INSTITUTE OF BIOCHEMISTRY AND BIOPHYSICS   (Poland)

^d UNIVERSITY OF WARSAW   (Poland)

Author keywords

BRAF inhibitor; Crystal structures; Metastatic melanoma; Monoallelic mutation; Rare BRAF mutations; V600DK601del; V600E; Vemurafenib

Indexed keywords

AMINOTRANSFERASE; B RAF KINASE; LACTATE DEHYDROGENASE; VEMURAFENIB; ANTINEOPLASTIC AGENT; BRAF PROTEIN, HUMAN; INDOLE DERIVATIVE; SULFONAMIDE;

AGED; ALLELE; AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; BONE METASTASIS; BRAF GENE; BRAIN METASTASIS; CANCER STAGING; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; COMPUTER MODEL; CRYSTAL STRUCTURE; DEATH; DISEASE COURSE; DRUG DOSE REDUCTION; DRUG WITHDRAWAL; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENERAL CONDITION DETERIORATION; GENETIC SCREENING; HUMAN; LACTATE DEHYDROGENASE BLOOD LEVEL; LIVER METASTASIS; LOW BACK PAIN; LUNG METASTASIS; METASTATIC MELANOMA; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; ONCOGENE; PALLIATIVE THERAPY; PATIENT MONITORING; PROGRESSION FREE SURVIVAL; PROTEIN INTERACTION; SEQUENCE ANALYSIS; STRUCTURE ANALYSIS; UNSPECIFIED SIDE EFFECT; CHEMICAL STRUCTURE; CHEMISTRY; GENE DELETION; GENETICS; MELANOMA; NEOPLASM METASTASIS; POINT MUTATION; PROTEIN TERTIARY STRUCTURE; TREATMENT OUTCOME;

AGED; ANTINEOPLASTIC AGENTS; FEMALE; HUMANS; INDOLES; MELANOMA; MODELS, MOLECULAR; NEOPLASM METASTASIS; POINT MUTATION; PROTEIN STRUCTURE, TERTIARY; PROTO-ONCOGENE PROTEINS B-RAF; SEQUENCE DELETION; SULFONAMIDES; TREATMENT OUTCOME;

EID: 84908117009     PISSN: None     EISSN: 14712407     Source Type: Journal    
DOI: 10.1186/1471-2407-14-727     Document Type: Article

References (33)

1. Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, Teague J, Woffendin H, Garnett MJ, Bottomley W, Davis N, Dicks E, Ewing R, Floyd Y, Gray K, Hall S, Hawes R, Hughes J, Kosmidou V, Menzies A, Mould C, Parker A, Stevens C, Watt S, Hooper S, Wilson R, Jayatilake H, Gusterson BA, Cooper C, Shipley J, et al. Mutations of the BRAF gene in human cancer. Nature 2002, 417(6892):949-954. 10.1038/nature00766, 12068308.
2. 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(4):395-405. 10.1016/j.molonc.2007.12.003, 19383313.
3. Sclafani F, Gullo G, Sheahan K, Crown J. BRAF mutations in melanoma and colorectal cancer: a single oncogenic mutation with different tumour phenotypes and clinical implications. Crit Rev Oncol Hematol 2013, 87(1):55-68. 10.1016/j.critrevonc.2012.11.003, 23246082.
4. Greaves WO, Verma S, Patel KP, Davies MA, Barkoh BA, Galbincea JM, Yao H, Lazar AJ, Aldape KD, Medeiros LJ, Luthra R. Frequency and spectrum of BRAF mutations in a retrospective, single-institution study of 1112 cases of melanoma. J Mol Diagn 2013, 15(2):220-226. 10.1016/j.jmoldx.2012.10.002, 23273605.
5. Jakob JA, Bassett RL, Ng CS, Curry JL, Joseph RW, Alvarado GC, Rohlfs ML, Richard J, Gershenwald JE, Kim KB, Lazar AJ, Hwu P, Davies MA. NRAS mutation status is an independent prognostic factor in metastatic melanoma. Cancer 2012, 118(16):4014-4023. 10.1002/cncr.26724, 3310961, 22180178.
6. Beadling C, Heinrich MC, Warrick A, Forbes EM, Nelson D, Justusson E, Levine J, Neff TL, Patterson J, Presnell A, McKinley A, Winter LJ, Dewey C, Harlow A, Barney O, Druker BJ, Schuff KG, Corless CL. Multiplex mutation screening by mass spectrometry evaluation of 820 cases from a personalized cancer medicine registry. J Mol Diagn 2011, 13(5):504-513. 10.1016/j.jmoldx.2011.04.003, 3157616, 21726664.
7. Heinzerling L, Kuhnapfel S, Meckbach D, Baiter M, Kaempgen E, Keikavoussi P, Schuler G, Agaimy A, Bauer J, Hartmann A, Kiesewetter F, Schneider-Stock R. Rare BRAF mutations in melanoma patients: implications for molecular testing in clinical practice. Br J Cancer 2013, 108(10):2164-2171. 10.1038/bjc.2013.143, 3670489, 23579220.
8. Houben R, Becker JC, Kappel A, Terheyden P, Brocker EB, Goetz R, Rapp UR. Constitutive activation of the Ras-Raf signaling pathway in metastatic melanoma is associated with poor prognosis. J Carcinog 2004, 3(1):6. 10.1186/1477-3163-3-6, 420489, 15046639.
9. Long GV, Menzies AM, Nagrial AM, Haydu LE, Hamilton AL, Mann GJ, Hughes TM, Thompson JF, Scolyer RA, Kefford RF. Prognostic and clinicopathologic associations of oncogenic BRAF in metastatic melanoma. J Clin Oncol 2011, 29(10):1239-1246. 10.1200/JCO.2010.32.4327, 21343559.
10. Lovly CM, Dahlman KB, Fohn LE, Su Z, Dias-Santagata D, Hicks DJ, Hucks D, Berry E, Terry C, Duke M, Su Y, Sobolik-Delmaire T, Richmond A, Kelley MC, Vnencak-Jones CL, Iafrate AJ, Sosman J, Pao W. Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials. PLoS One 2012, 7(4):e35309. 10.1371/journal.pone.0035309, 3335021, 22536370.
11. Thomas NE, Edmiston SN, Alexander A, Millikan RC, Groben PA, Hao H, Tolbert D, Berwick M, Busam K, Begg CB, Mattingly D, Ollila DW, Tse CK, Hummer A, Lee-Taylor J, Conway K. Number of nevi and early-life ambient UV exposure are associated with BRAF-mutant melanoma. Cancer Epidemiol Biomarkers Prev 2007, 16(5):991-997. 10.1158/1055-9965.EPI-06-1038, 17507627.
12. COSMIC Catalogue of Somatic Mutations in Cancer http://cancer.sanger.ac.uk/cancergenome/projects/cosmic, COSMIC.
13. Wan PT, Garnett MJ, Roe SM, Lee S, Niculescu-Duvaz D, Good VM, Jones CM, Marshall CJ, Springer CJ, Barford D, Marais R. Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. Cell 2004, 116(6):855-867. 10.1016/S0092-8674(04)00215-6, 15035987.
14. Bollag G, Hirth P, Tsai J, Zhang J, Ibrahim PN, Cho H, Spevak W, Zhang C, Zhang Y, Habets G, Burton EA, Wong B, Tsang G, West BL, Powell B, Shellooe R, Marimuthu A, Nguyen H, Zhang KY, Artis DR, Schlessinger J, Su F, Higgins B, Iyer R, D'Andrea K, Koehler A, Stumm M, Lin PS, Lee RJ, Grippo J, et al. Clinical efficacy of a RAF inhibitor needs broad target blockade in BRAF-mutant melanoma. Nature 2010, 467(7315):596-599. 10.1038/nature09454, 2948082, 20823850.
15. 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. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med 2011, 364(26):2507-2516. 10.1056/NEJMoa1103782, 3549296, 21639808.
16. 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(9):809-819. 10.1056/NEJMoa1002011, 3724529, 20818844.
17. 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(8):707-714. 10.1056/NEJMoa1112302, 3724515, 22356324.
18. Klein O, Clements A, Menzies AM, O'Toole S, Kefford RF, Long GV. BRAF inhibitor activity in V600R metastatic melanoma. Eur J Cancer 2013, 49(5):1073-1079. 10.1016/j.ejca.2012.11.004, 23237741.
19. Rubinstein JC, Sznol M, Pavlick AC, Ariyan S, Cheng E, Bacchiocchi A, Kluger HM, Narayan D, Halaban R. Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032. J Transl Med 2010, 8:67. 10.1186/1479-5876-8-67, 2917408, 20630094.
20. HGVS Human Genome Variation Society http://www.hgvs.org/mutnomen, HGVS.
21. PDB Protein Data Bank http://www.wwpdb.org/, PDB.
22. Bernstein FC, Koetzle TF, Williams GJ, Meyer EF, Brice MD, Rodgers JR, Kennard O, Shimanouchi T, Tasumi M. The Protein Data Bank: a computer-based archival file for macromolecular structures. J Mol Biol 1977, 112(3):535-542. 10.1016/S0022-2836(77)80200-3, 875032.
23. Ren L, Ahrendt KA, Grina J, Laird ER, Buckmelter AJ, Hansen JD, Newhouse B, Moreno D, Wenglowsky S, Dinkel V, Gloor SL, Hastings G, Rana S, Rasor K, Risom T, Sturgis HL, Voegtli WC, Mathieu S. The discovery of potent and selective pyridopyrimidin-7-one based inhibitors of B-RafV600E kinase. Bioorg Med Chem Lett 2012, 22(10):3387-3391. 10.1016/j.bmcl.2012.04.015, 22534450.
24. Yang H, Higgins B, Kolinsky K, Packman K, Go Z, Iyer R, Kolis S, Zhao S, Lee R, Grippo JF, Schostack K, Simcox ME, Heimbrook D, Bollag G, Su F. RG7204 (PLX4032), a selective BRAFV600E inhibitor, displays potent antitumor activity in preclinical melanoma models. Cancer Res 2010, 70(13):5518-5527. 10.1158/0008-5472.CAN-10-0646, 20551065.
25. Busser B, Leccia MT, Gras-Combe G, Bricault I, Templier I, Claeys A, Richard MJ, de Fraipont F, Charles J. Identification of a novel complex BRAF mutation associated with major clinical response to vemurafenib in a patient with metastatic melanoma. JAMA Dermatol 2013, 149(12):1403-1406. 10.1001/jamadermatol.2013.8198, 24108467.
26. Oler G, Ebina KN, Michaluart P, Kimura ET, Cerutti J. Investigation of BRAF mutation in a series of papillary thyroid carcinoma and matched-lymph node metastasis reveals a new mutation in metastasis. Clin Endocrinol (Oxf) 2005, 62(4):509-511. 10.1111/j.1365-2265.2005.02235.x, 15807885.
27. Ponti G, Pellacani G, Tomasi A, Gelsomino F, Spallanzani A, Depenni R, Al Jalbout S, Simi L, Garagnani L, Borsari S, Conti A, Ruini C, Fontana A, Luppi G. The somatic affairs of BRAF: tailored therapies for advanced malignant melanoma and orphan non-V600E (V600R-M) mutations. J Clin Pathol 2013, 66(5):441-445. 10.1136/jclinpath-2012-201345, 23463675.
28. Menzies AM, Haydu LE, Visintin L, Carlino MS, Howle JR, Thompson JF, Kefford RF, Scolyer RA, Long GV. Distinguishing clinicopathologic features of patients with V600E and V600K BRAF-mutant metastatic melanoma. Clin Cancer Res 2012, 18(12):3242-3249. 10.1158/1078-0432.CCR-12-0052, 22535154.
29. Lin J, Goto Y, Murata H, Sakaizawa K, Uchiyama A, Saida T, Takata M. Polyclonality of BRAF mutations in primary melanoma and the selection of mutant alleles during progression. Br J Cancer 2011, 104(3):464-468. 10.1038/sj.bjc.6606072, 3049568, 21224857.
30. 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. 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. 10.1016/S1470-2045(14)70012-9, 24508103.
31. unicancer http://www.unicancer.fr/rd-unicancer/programme-acse.
32. Bay A, Hasna J, Attencourt C, Sockéel M, Althakfi W, Ikoli J, Sevestre H, Gubler B, Trudel S. Mutations V600 de BRAF dans le mélanome: comparaison de l'immunohistochimie et de la biologie moléculaire [abstract]. Annales de Pathologie 2014, in press.
33. 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(11):1385-1391. 10.5858/arpa.2011-0505-OA, 22332713.