Abstract
Primary pineal melanoma is exceedingly rare, and sufficient treatment options have not been established. Here we describe a 57-year-old male patient who presented with short-term memory disturbance and ataxia. Magnetic resonance imaging of the brain showed a tumor mass in the pineal gland. Biopsy revealed a malignant melanocytic tumor. No primary malignant melanoma was known, and extensive imaging studies including PET-CT excluded other sites affected by a malignant melanoma. The demonstration of the BRAF V600E mutation in the pineal tumor made the patient eligible for intrathecal treatment with vemurafenib. Unfortunately, the patient died 26 days after surgery due to tumor hemorrhage. This is the first report of V600E in primary pineal melanoma, suggesting that a fraction of these rare tumors might additionally benefit from vemurafenib treatment.
References
Arantes M, Castro AF, Romao H, Meireles P, Garcia R, Honavar M, Vaz AR, Resende M (2011) Primary pineal malignant melanoma: case report and literature review. Clin Neurol Neurosurg 113:59–64
Brat DJ, Giannini C, Scheithauer BW, Burger PC (1999) Primary melanocytic neoplasms of the central nervous systems. Am J Surg Pathol 23:745–754
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, Hargrave D, Pritchard-Jones K, Maitland N, Chenevix-Trench G, Riggins GJ, Bigner DD, Palmieri G, Cossu A, Flanagan A, Nicholson A, Ho JW, Leung SY, Yuen ST, Weber BL, Seigler HF, Darrow TL, Paterson H, Marais R, Marshall CJ, Wooster R, Stratton MR, Futreal PA (2002) Mutations of the BRAF gene in human cancer. Nature 417:949–954
Han SJ, Clark AJ, Ivan ME, Parsa AT, Perry A (2011) Pathology of pineal parenchymal tumors. Neurosurg Clin N Am 22(335–340):vii
Iizuka H, Nakamura T, Kurauchi M (1990) Primary intracranial melanoma–case report. Neurol Med Chir (Tokyo) 30:698–702
Jouvet A, Saint-Pierre G, Fauchon F, Privat K, Bouffet E, Ruchoux MM, Chauveinc L, Fevre-Montange M (2000) Pineal parenchymal tumors: a correlation of histological features with prognosis in 66 cases. Brain Pathol (Zurich, Switzerland) 10:49–60
Kahilogullari G, Massimi L, Di Rocco C (2013) Pineal cysts in children: case-based update. Child's Nerv Syst ChNS Offic J Int Soc Pediat Neurosurg 29:753–760
Lauro S, Trasatti L, Capalbo C, Mingazzini PL, Vecchione A, Bosman C (2002) Unique pineal gland metastasis of clear cell renal carcinoma: case report and review of the literature. Anticancer Res 22:3077–3079
Madureira P, de Mello RA (2014) BRAF and MEK Gene rearrangements in melanoma: implications for targeted therapy. Mol Diagn Ther 18:285–291
Rastrelli M, Tropea S, Pigozzo J, Bezzon E, Campana LG, Stramare R, Alaibac M, Rossi CR (2014) Melanoma m1: diagnosis and therapy. In Vivo 28:273–285
Schuster JM, Rostomily RC, Hahn C, Winn HR (1998) Two cases of esophageal carcinoma metastatic to the pineal region with a review of the literature. Surg Neurol 49:100–102, discussion 102–103
Thakkar JP, Chew L, Villano JL (2013) Primary CNS germ cell tumors: current epidemiology and update on treatment. Med Oncol (Northwood, London, England) 30:496
Patient consent
The patient’s relatives have consented to the submission of the case report for submission to the journal.
Conflict of interest
All authors certify that they have NO affiliations with or involvement in any organization or entity with any financial interest (such as honoraria; educational grants; participation in speakers’ bureaus; membership, employment, consultancies, stock ownership, or other equity interest; and expert testimony or patent-licensing arrangements), or non-financial interest (such as personal or professional relationships, affiliations, knowledge or beliefs) in the subject matter or materials discussed in this manuscript.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Jetschke, K., Viehweger, H., Freesmeyer, M. et al. Primary pineal malignant melanoma with B-Raf V600E mutation: a case report and brief review of the literature. Acta Neurochir 157, 1267–1270 (2015). https://doi.org/10.1007/s00701-015-2427-3
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00701-015-2427-3