毛细胞型星形细胞瘤临床病理及分子遗传学分析  

Clinicopathological and molecular genetic analysis of pilocytic astrocytoma

作　　者：袁媛[1] 李佳 何雪 张伟[1] 张微微[1] 孙梦雪 关春艳 李少祥 董格红 桂秋萍[2] Yuan Yuan;Li Jia;He Xue;Zhang Wei;Zhang Weiwei;Sun Mengxue;Guan Chunyan;Li Shaoxiang;Dong Gehong;Gui Qiuping(Department of Pathology,Beijing Tiantan Hospital,Capital Medical University,Beijing 100050,China)

机构地区：[1]首都医科大学附属北京天坛医院病理科,100050 [2]解放军总医院第一医学中心病理科

出　　处：《北京医学》2022年第5期416-420,426,共6页Beijing Medical Journal

摘　　要：目的 探讨毛细胞型星形细胞瘤的临床病理特征、分子遗传学改变、鉴别诊断及预后情况。方法 收集解放军总医院第一医学中心病理科2008—2018年和首都医科大学附属北京天坛医院病理科2021年诊断为毛细胞型星形细胞瘤或毛细胞黏液样星形细胞瘤且随访资料完整的病例共22例,分析其临床、病理学及基因检测相关资料,观察影像学及病理学特征。结果 22例患者中,男13例,女9例,发病年龄2~56岁,中位年龄16.0岁,平均18.5岁;MRI检查显示,肿瘤主要发生在小脑、脑干和脊髓等部位,呈边界清楚的囊实性病变,伴附壁结节,结节强化。毛细胞型星形细胞瘤的组织学改变可见不同比例的毛细胞样细胞,细胞致密区、疏松区,常见Rosenthal纤维和嗜酸性颗粒小体,毛细胞黏液样星形细胞瘤是其亚型;免疫组化染色显示,GFAP、Olig-2和S-100蛋白阳性表达,Ki-67增殖指数低,P53蛋白呈细胞核弱阳性或阴性表达;2例毛细胞型星形细胞瘤行荧光原位杂交和高通量基因检测,显示出现KIAA1549-BRAF基因融合。结论 毛细胞型星形细胞瘤确诊后一般仅行手术切除,其诊断需结合临床资料及影像学特征,而组织形态学的正确判断对于肿瘤的确诊有至关重要的作用。Objective To investigate the clinicopathological features, molecular genetic changes, differential diagnosis and prognosis of pilocytic astrocytoma. Methods A total of 22 cases diagnosed with pilocytic astrocytomas or pilomyoxoid astrocytoma with complete follow-up data from Department of Pathology, First Medical Center of PLA General Hospital from 2008 to 2018 and Department of Pathology, Beijing Tiantan Hospital, Capital Medical University in 2021 were collected. The clinical, pathological and genetic data were analyzed, and the imaging and patho logical features were observed. Results Among the 22 cases, 13 male and nine female were included. The onset age ranged from 2-56 years, with a median age of 16.0 years and an average of 18.5 years. MRI showed that the tumors mainly occurred in the cerebellum, brainstem and spinal cord, presenting well-defined cystic solid lesions with mural nodules and nodular enhancement. The histological changes of pilocytic astrocytoma showed different proportions of pilocytic like cells, dense areas, loose areas, and Rosenthal fibers and eosinophilic granular bodies were common. Pilomyoxoid astrocytoma was its subtype. Immunohistochemical staining showed that GFAP, Olig-2 and S-100 proteins were positive, Ki-67 proliferation index was low, and P53 protein was weakly positive or negative. Fluorescence in situ hybridization and high-throughput genetic testing were performed in two cases of pilocytic astrocytoma, which showed KIAA1549-BRAF gene fusion. Conclusions Surgical resection is usually performed after the diagnosis of pilocytic astrocytoma. The diagnosis needs to be combined with clinical data and imaging features, and the correct judgment of histomorphology plays a crucial role in the diagnosis of the tumor.

关 键 词：毛细胞型星形细胞瘤 毛细胞黏液样星形细胞瘤 KIAA1549-BRAF基因融合 分子遗传学 鉴别诊断 

分 类 号：R739.4[医药卫生—肿瘤]