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BMC Cancer
Published in: BMC Cancer 1/2016

Open Access 01-12-2016 | Case report

A case report of a patient with metastatic ocular melanoma who experienced a response to treatment with the BRAF inhibitor vemurafenib

Authors: A. Maleka, G. Åström, P. Byström, G. J. Ullenhag

Published in: BMC Cancer | Issue 1/2016

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Abstract

Background

Conjunctival malignant melanoma (CMM) is a rare malignancy and in the advanced setting there is no effective treatment. In contrast, half of cutaneous melanomas have BRAF mutations and treatment with BRAF inhibitors is established for patients with disseminated disease. The most common form of ocular melanoma, uveal melanoma, lacks these mutations, however, their presence has been reported for CMM.

Case presentation

We used the BRAF inhibitor vemurafenib to treat a 53 year-old female suffering from a BRAFV600E mutated metastatic CMM. The patient benefited from the treatment, a response was evident within a week and she experienced a progression free survival of four months.

Conclusions

To our knowledge, this is the first described case of response to vemurafenib treatment in a patient with ocular melanoma.
Literature
1.
Brownstein S. Malignant melanoma of the conjunctiva. Cancer Control. 2004;11(5):310–6.PubMed
2.
Curtin JA, Fridlyand J, Kageshita T, Patel HN, Busam KJ, Kutzner H, et al. Distinct sets of genetic alterations in melanoma. N Engl J Med. 2005;353(20):2135–47.CrossRefPubMed
3.
4.
Sekulic A, Haluska Jr P, Miller AJ, Genebriera De Lamo J, Ejadi S, Pulido JS, et al. Malignant melanoma in the 21st century: the emerging molecular landscape. Mayo Clin Proc. 2008;83(7):825–46.CrossRefPubMedPubMedCentral
5.
Griewank KG, Westekemper H, Murali R, Mach M, Schilling B, Wiesner T, et al. Conjunctival melanomas harbor BRAF and NRAS mutations and copy number changes similar to cutaneous and mucosal melanomas. Clin Cancer Res. 2013;19(12):3143–52.CrossRefPubMed
6.
Lake SL, Jmor F, Dopierala J, Taktak AF, Coupland SE, Damato BE. Multiplex ligation-dependent probe amplification of conjunctival melanoma reveals common BRAF V600E gene mutation and gene copy number changes. Invest Ophthalmol Vis Sci. 2011;52(8):5598–604.CrossRefPubMed
7.
Spendlove HE, Damato BE, Humphreys J, Barker KT, Hiscott PS, Houlston RS. BRAF mutations are detectable in conjunctival but not uveal melanomas. Melanoma Res. 2004;14(6):449–52.CrossRefPubMed
8.
Ascierto PA, Minor D, Ribas A, Lebbe C, O’Hagan A, Arya N, et al. Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma. J Clin Oncol. 2013;31(26):3205–11.CrossRefPubMed
9.
McArthur GA, Chapman PB, Robert C, Larkin J, Haanen JB, Dummer R, 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):323–32.CrossRefPubMedPubMedCentral
10.
Populo H, Soares P, Rocha AS, Silva P, Lopes JM. Evaluation of the mTOR pathway in ocular (uvea and conjunctiva) melanoma. Melanoma Res. 2010;20(2):107–17.CrossRefPubMed
11.
12.
Kujala E, Tuomaala S, Eskelin S, Kivela T. Mortality after uveal and conjunctival melanoma: which tumour is more deadly? Acta Ophthalmol. 2009;87(2):149–53.CrossRefPubMed
13.
Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, et al. Mutations of the BRAF gene in human cancer. Nature. 2002;417(6892):949–54.CrossRefPubMed
14.
Chapman PB, Hauschild A, Robert C, Haanen JB, Ascierto P, Larkin J, et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med. 2011;364(26):2507–16.CrossRefPubMedPubMedCentral
15.
Flaherty KT, Puzanov I, Kim KB, Ribas A, McArthur GA, Sosman JA, et al. Inhibition of mutated, activated BRAF in metastatic melanoma. N Engl J Med. 2010;363(9):809–19.CrossRefPubMedPubMedCentral
16.
Sosman JA, Kim KB, Schuchter L, Gonzalez R, Pavlick AC, Weber JS, et al. Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib. N Engl J Med. 2012;366(8):707–14.CrossRefPubMedPubMedCentral
17.
Dummer R, Goldinger SM, Turtschi CP, Eggmann NB, Michielin O, Mitchell L, et al. Vemurafenib in patients with BRAF(V600) mutation-positive melanoma with symptomatic brain metastases: final results of an open-label pilot study. Eur J Cancer. 2014;50(3):611–21.CrossRefPubMed
18.
Girotti MR, Pedersen M, Sanchez-Laorden B, Viros A, Turajlic S, Niculescu-Duvaz D, et al. Inhibiting EGF receptor or SRC family kinase signaling overcomes BRAF inhibitor resistance in melanoma. Cancer Discov. 2013;3(2):158–67.CrossRefPubMed
19.
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(7287):427–30.CrossRefPubMedPubMedCentral
20.
Yancovitz M, Litterman A, Yoon J, Ng E, Shapiro RL, Berman RS, et al. Intra- and inter-tumor heterogeneity of BRAF(V600E))mutations in primary and metastatic melanoma. PLoS One. 2012;7(1):e29336.CrossRefPubMedPubMedCentral
21.
Kilic E, Bruggenwirth HT, Verbiest MM, Zwarthoff EC, Mooy NM, Luyten GP, et al. The RAS-BRAF kinase pathway is not involved in uveal melanoma. Melanoma Res. 2004;14(3):203–5.CrossRefPubMed
22.
Loskog A, Maleka A, Mangsbo S, Svensson E, Lundberg C, Nilsson A, et al. Immunostimulatory AdCD40L gene therapy combined with low-dose cyclophosphamide in metastatic melanoma patients. Br J Cancer. 2016;114(8):872–80.CrossRefPubMed
23.
Zimmer L, Vaubel J, Mohr P, Hauschild A, Utikal J, Simon J, et al. Phase II DeCOG-study of ipilimumab in pretreated and treatment-naive patients with metastatic uveal melanoma. PLoS One. 2015;10(3):e0118564.CrossRefPubMedPubMedCentral
24.
Zimmer L, Eigentler TK, Kiecker F, Simon J, Utikal J, Mohr P, et al. Open-label, multicenter, single-arm phase II DeCOG-study of ipilimumab in pretreated patients with different subtypes of metastatic melanoma. J Transl Med. 2015;13:351.CrossRefPubMedPubMedCentral
25.
Maio M, Danielli R, Chiarion-Sileni V, Pigozzo J, Parmiani G, Ridolfi R, et al. Efficacy and safety of ipilimumab in patients with pre-treated, uveal melanoma. Ann Oncol. 2013;24(11):2911–5.CrossRefPubMed
26.
Kottschade LA, McWilliams RR, Markovic SN, Block MS, Villasboas Bisneto J, Pham AQ, et al. The use of pembrolizumab for the treatment of metastatic uveal melanoma. Melanoma Res. 2016;26(3):300–3.CrossRefPubMed
27.
Prahallad A, Sun C, Huang S, Di Nicolantonio F, Salazar R, Zecchin D, et al. Unresponsiveness of colon cancer to BRAF(V600E) inhibition through feedback activation of EGFR. Nature. 2012;483(7387):100–3.CrossRefPubMed
28.
29.
Sheng X, Li S, Chi Z, Si L, Cui C, Mao L, et al. Prognostic factors for conjunctival melanoma: a study in ethnic Chinese patients. Br J Ophthalmol. 2015;99:990–6.CrossRefPubMed
30.
Griewank KG, Westekemper H, Schilling B, Livingstone E, Schimming T, Sucker A, et al. Conjunctival melanomas harbor BRAF and NRAS mutations--response. Clin Cancer Res. 2013;19(22):6331–2.CrossRefPubMed
Metadata
Title
A case report of a patient with metastatic ocular melanoma who experienced a response to treatment with the BRAF inhibitor vemurafenib
Authors
A. Maleka
G. Åström
P. Byström
G. J. Ullenhag
Publication date
01-12-2016
Publisher
BioMed Central
Published in
BMC Cancer / Issue 1/2016
Electronic ISSN: 1471-2407
DOI
https://doi.org/10.1186/s12885-016-2657-7

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