Bathini Abhijith R, Negri Brito Herika Karla, Donev Kliment, Zimmerman Richard S
Neurological Surgery, Mayo Clinic Arizona, Phoenix, USA.
Pathology, Mayo Clinic Arizona, Phoenix, USA.
Cureus. 2025 May 4;17(5):e83459. doi: 10.7759/cureus.83459. eCollection 2025 May.
Isolated intraventricular melanoma is an infrequent disease presentation that poses unique diagnostic and management challenges. Of the few cases reported in the literature, each has a unique management plan. We present the case of a 64-year-old female with a history of gallbladder melanoma in remission after multiple cycles of chemotherapy and immunotherapy. After eight years, the patient was presented to the emergency department due to cognitive changes, memory issues, headaches, and vomiting. Imaging showed diffuse, bulky, nodular enhancement of bilateral ependyma of the lateral ventricles of unclear etiology. Systemic imaging revealed no additional sites of metastatic disease. Cytologic evaluation through multiple cerebrospinal fluid (CSF) aspirations via lumbar punctures produced unremarkable results. An external ventricular catheter was subsequently placed directly into the right lateral ventricle with no CSF able to be aspirated. Through modulated suction and aspiration, a biopsy sample was obtained through this catheter. Molecular testing of the specimen facilitated the initiation of targeted, combination chemo- and immunotherapies in conjunction with whole-brain radiation therapy. This multidisciplinary, personalized treatment plan ultimately resulted in considerable regression of her ventricular disease burden. This very rare disease presentation, along with our novel approach for tissue sampling, highlights the importance of obtaining specimens for molecular testing to guide targeted therapies that optimize patient outcomes, particularly in instances in which lumbar CSF fails to result in diagnostic yield.
孤立性脑室内黑色素瘤是一种罕见的疾病表现,带来了独特的诊断和管理挑战。在文献报道的少数病例中,每个病例都有独特的管理方案。我们报告了一例64岁女性病例,该患者有胆囊黑色素瘤病史,在接受多个周期的化疗和免疫治疗后病情缓解。八年后,患者因认知改变、记忆问题、头痛和呕吐被送往急诊科。影像学检查显示双侧侧脑室室管膜弥漫性、大块状、结节状强化,病因不明。全身影像学检查未发现其他转移病灶。通过腰椎穿刺多次抽取脑脊液进行细胞学评估,结果无异常。随后直接在右侧侧脑室放置了一根外置脑室导管,但未能抽出脑脊液。通过调节吸引,经该导管获取了活检样本。对标本进行分子检测有助于启动靶向联合化疗和免疫治疗,并结合全脑放射治疗。这种多学科的个性化治疗方案最终使她脑室内的疾病负担显著减轻。这种非常罕见的疾病表现,以及我们新颖的组织采样方法,凸显了获取标本进行分子检测以指导靶向治疗从而优化患者治疗效果的重要性,特别是在腰椎脑脊液检查未能得出诊断结果的情况下。