15例脉络膜黑色素瘤患者临床及病理学特征分析

Clinical and pathological features of 15 patients with choroidal melanoma

目的观察脉络膜黑色素瘤(CM)患者的临床及病理学特点。方法回顾性病例研究。2011年至2021年于苏州大学附属第二医院病理科收检并经病理检查确诊的CM患者15例15只眼的石蜡标本纳入研究。通过医院信息系统回顾性收集患者年龄、性别、临床表现、治疗方案、病理检查结果等。分析其临床特点、免疫组织化学(免疫组化)染色、分子病理学特点。结果15例患者中,男性8例,女性7例;平均年龄61岁;均为单眼发病。主述视力下降、视物模糊、眼前黑影遮挡感8例;眼红、流泪、脓性分泌物1例;视力丧失、无光感2例;伴视网膜脱离4例。肿瘤平均直径1.4 cm。肿瘤大体外观呈半球形、“蘑菇形”或扁平弥漫形。肿瘤细胞多呈实性、片状、交叉簇状排列,部分围绕血管呈假“菊形”团样排列伴坏死。15只眼中,梭形细胞型、上皮样型、混合细胞型分别为6、2、7只眼。胞质部分嗜双色或嗜酸性,部分透明,部分富含色素;细胞黏附性差,异形性显著,染色质粗糙,核分裂象多见,核仁明显。免疫组化染色结果显示,所有患眼肿瘤组织中HMB45、SOX10、S100、Melan-A均为阳性;上皮源性标记AE1/3、淋巴源性标记LCA以及神经内分泌标记CgA、Syn均为阴性。基因检测结果显示,所有患者均未发现C-KIT、BRAF、NRAS基因突变。随访时间为8~98个月。15例患者中,生存12例;肿瘤复发和(或)转移死亡3例。结论CM临床无特异性表现,确诊依赖组织学形态及免疫组化染色。

Objective To observe the clinical and pathological features of choroidal malignant melanoma(CM).Methods A retrospective case study.From 2011 to 2021,paraffin specimens from 15 eyes of 15 CM patients diagnosed by pathological examination in the Department of Pathology,the Second Affiliated Hospital of Soochow University were included in the study.The age,gender,clinical manifestations,treatment plan and pathological examination results of patients were collected retrospectively through the hospital information system.The clinical characteristics,immunohistochemical staining and molecular pathological characteristics were analyzed.Results Among the 15 cases,8 males and 7 females.The average age was 61.All patients were monocular paroxysm.There were 8 cases of decreased vision,blurred vision and dark shadow in front of the eyes;1 case had red eye,lacrimation and purulent secretion;2 cases had visual loss and no light perception;4 cases had retinal detachment.The average diameter of the tumors was 1.4 cm.The general appearance of the tumor was hemispherical,“mushroom-shaped”or flat diffuse.Most of the tumor cells were arranged in solid,flaky and cross clusters,and some of them were arranged in false“chrysanthemum form”around the blood vessels with necrosis.In 15 eyes,spindle-cell type,epithelioid type and mixed cell type were 6,2 and 7 eyes,respectively.The cytoplasm was partly double stained or eosinophilic,partly clear,and partly rich in pigment.The cells had poor adhesion,marked atypia,rough chromatin,frequent mitotic figures,and prominent nucleoli.Immunohistochemical staining was positive for HMB45,SOX10,S100 and Melan-A in 15 patients,but negative for epithelial markers AE1/3,lymphatic markers LCA,neuroendocrine markers CgA and Syn.Genetic testing results showed that none of the patients found C-KIT,BRAF,NRAS gene mutations.Fifteen patients were followed up for 8-96 months,of which 12 survived and 3 died after recurrence and/or metastasis.Conclusion CM has no specific clinical clinical manifestations,and he diagnosis depends on histological morphology and immunohistochemical staining.