Jetschke Kathleen, Viehweger Heike, Freesmeyer Martin, Warnke Jan-Peter, Mawrin Christian
Department of Neurosurgery, Paracelsus-Hospital Zwickau, Zwickau, Germany.
Acta Neurochir (Wien). 2015 Jul;157(7):1267-70. doi: 10.1007/s00701-015-2427-3. Epub 2015 May 15.
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.
原发性松果体黑色素瘤极为罕见，目前尚未确立足够的治疗方案。在此，我们描述一名57岁男性患者，其出现短期记忆障碍和共济失调。脑部磁共振成像显示松果体区有一肿瘤肿块。活检显示为恶性黑素细胞瘤。未发现原发性恶性黑色素瘤，包括PET-CT在内的广泛影像学检查排除了其他受恶性黑色素瘤影响的部位。松果体肿瘤中BRAF V600E突变的证实使该患者有资格接受鞘内注射维莫非尼治疗。不幸的是，患者术后26天因肿瘤出血死亡。这是原发性松果体黑色素瘤中V600E的首例报道，表明这些罕见肿瘤中的一部分可能额外受益于维莫非尼治疗。
