摘要：

目的 总结中枢神经系统原发性黑色素细胞肿瘤（简称黑色素细胞肿瘤）的临床、影像学和病理学特征，提高对疾病的诊断与鉴别诊断能力。方法与结果 纳入2012年1月至2019年10月在广东三九脑科医院诊断与治疗的7例黑色素细胞肿瘤患者，5例手术切除，2例行组织活检术；MRI表现为T₁WI高信号，T₂WI低信号，FLAIR成像高信号；组织学形态由卵圆形或多边形黑色素细胞构成，胞核偏位，核仁嗜酸性，胞质内含数量不等的色素细胞，细胞异型性不等；免疫组化染色，Melan-A、S-100蛋白呈阳性，HMB-45呈阴性、散在阳性或强阳性。最终诊断为黑色素细胞瘤4例，黑色素瘤1例，弥漫性黑色素细胞增生症1例，黑色素瘤病1例。3例黑色素细胞瘤术后辅以放疗，其中2例分别随访56和116个月状态良好，1例失访；1例未行放疗的黑色素细胞瘤患者总生存期为20个月；1例黑色素瘤患者术后辅以放化疗，总生存期为15个月；1例弥漫性黑色素细胞增生症患者总生存期为13个月；1例黑色素瘤病患者经放化疗后7个月状态良好。结论 中枢神经系统原发性黑色素细胞肿瘤罕见，黑色素细胞瘤常见于中老年人，黑色素细胞增生症好发于儿童。肿瘤细胞恒定表达Melan-A和S-100蛋白，而HMB-45表达模式有助于鉴别肿瘤良恶性。肿瘤预后尚不清楚，黑色素细胞瘤预后最好，放疗可获益。

关键词: 黑色素瘤, 中枢神经系统肿瘤, 免疫组织化学, 病理学

Abstract:

Objective To investigate the central nervous system (CNS) primary melanocytic tumors (melanocytic tumors) and improve the understanding of melanocytic tumors. Methods and Results Since January 2012 to October 2019, 7 cases of melanocytic tumors were collected in Guangdong 999 Brain Hospital. Five patients underwent surgical resection and 2 patients underwent tissue biopsy. MRI showed high signal in T₁WI, low signal in T₂WI, and high signal in FLAIR. Tumor cell assumed a variety of shapes, including oval and polygonal, melanin-containing macrophages from benign to atypical. Results of immunohistochemistry showed that Melan-A and S-100 protion were consistently positive, and HMB-45 was negative, scattered or strongly positive. Four patients were diagnosed with meningeal melanocytoma, one with meningeal melanoma, one with diffuse meningeal melanocytosis, and one with meningeal melanomatosis. Four cases of melanocytoma underwent total or major resection, and of 3 cases received postoperative radiotherapy. The 2 cases who received radiotherapy were in good condition after follow-up of 56 and 116 months. The one case did not receive radiotherapy stay alive for 20 months. One meningeal melanomatosis patient received postoperative chemoradiotherapy, with a total survival time of 15 months. One patient with diffuse melanocytosis had a total survival time of 13 months. One meningeal melanocytosis patient improved after 7 months received chemoradiotherapy. Conclusions CNS primary melanocytic tumors are rare. Meningeal melanocytoma is common in the elderly, while diffuse meningeal melanocytosis is common in children. The expression patterns of melanin markers Melan-A, S-100 are consistently expressed, and HMB-45 which helps to identify the benign and malignant tumors. The prognosis of tumour is still unclear. Melanocytoma has the best prognosis and benefits from radiotherapy.

Key words: Melanoma, Central nervous system neoplasms, Immunohistochemistry, Pathology