Primary central nervous system (CNS) melanoma is an extremely rare condition, with an incidence rate of 0.01 per 100,000 individuals per year. Despite its rarity, the etiology and pathogenesis of this disease are not yet fully understood. Primary CNS melanoma exhibits highly aggressive biological behavior and presents clinically in a distinct manner from other types of melanomas. It can develop at any age, predominantly affecting the meninges as the primary site, with clinical symptoms varying depending on the neoplasm’s location. Due to the lack of specificity in its presentation and the challenging nature of imaging diagnosis, distinguishing primary CNS melanoma from other CNS diseases. The combination of challenges in early detection, heightened tumor aggressiveness, and the obscured location of its origin contribute to an unfavorable prognostic outcome. Furthermore, there has been currently no consensus on a standardized treatment approach for primary CNS melanoma. Despite recent advancements in targeted therapy and immunotherapy for CNS melanoma, patients with primary CNS melanoma have limited treatment options due to their inadequate response to these therapies. Here, we provided a comprehensive summary of the epidemiology, clinical features, molecular pathological manifestations, and available diagnostic and therapeutic approaches of primary CNS melanoma. Additionally, we proposed potential therapeutic strategies for it.

中文翻译：

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原发性中枢神经系统黑色素瘤的临床病理特征、诊治现状及进展

原发性中枢神经系统 (CNS) 黑色素瘤是一种极其罕见的疾病，每年发病率为每 10 万人中 0.01 人。尽管这种疾病很罕见，但其病因和发病机制尚未完全了解。原发性中枢神经系统黑色素瘤表现出高度侵袭性的生物学行为，并且在临床上以与其他类型黑色素瘤不同的方式呈现。它可以在任何年龄发生，主要影响脑膜作为原发部位，临床症状根据肿瘤的位置而变化。由于其表现缺乏特异性以及影像诊断的挑战性，将原发性中枢神经系统黑色素瘤与其他中枢神经系统疾病区分开来。早期检测的挑战、肿瘤侵袭性的增强以及其起源位置的模糊，这些因素综合在一起导致了不利的预后结果。此外，目前对于原发性中枢神经系统黑色素瘤的标准化治疗方法尚未达成共识。尽管中枢神经系统黑色素瘤的靶向治疗和免疫治疗最近取得了进展，但原发性中枢神经系统黑色素瘤患者由于对这些疗法的反应不足，治疗选择有限。在此，我们全面总结了原发性中枢神经系统黑色素瘤的流行病学、临床特征、分子病理表现以及可用的诊断和治疗方法。此外，我们还提出了潜在的治疗策略。