毛细胞型星形细胞瘤116例临床病理及分子遗传学特征分析  

Clinicopathological and molecular genetic characteristics of pilocytic astrocytoma:analysis of 116 cases

作　　者：徐玉霞 魏思航 王芳[1] 吴小延[1] XU Yu-xia;WEI Si-hang;WANG Fang;WU Xiao-yan(Department of Molecular Diagnosis,Sun Yat-sen University Cancer Center,Guangzhou 510060,China;Department of Radiotherapy Center,Afiliated Cancer Hospital and Institute of Guangzhou Medical University,Guangzhou 510060,China)

机构地区：[1]中山大学肿瘤防治中心分子诊断科,广州510060 [2]广州医科大学附属肿瘤医院放疗中心,广州510060

出　　处：《诊断病理学杂志》2024年第7期603-608,共6页Chinese Journal of Diagnostic Pathology

基　　金：国家自然科学基金项目(编号81602468);广东省基础与应用基础研究基金(2020A1515010313,2017A030310192);中山大学青年教师培育项目(17ykpy84)。

摘　　要：目的探讨毛细胞型星形细胞瘤(PA)临床病理及分子遗传学特征,分析预后相关因素。方法回顾性分析116例PA患者临床病理随访资料及治疗信息,分析各指标预后意义。结果116例PA主要临床表现为头晕头痛和共济失调。免疫组化结果显示GFAP、Olig-2、ATRX、S-100阳性表达,IDH1阴性表达,NeuN大部分阴性表达,Ki-67增殖指数低,p53蛋白呈弱阳性或阴性表达,1p/19q绝大部分无缺失。KIAA1549-BRAF融合基因阳性率在年龄和肿瘤部位的差异有统计学意义(P<0.05)。Log-rank单因素分析结果显示,肿瘤切除率是影响本组患者PFS的主要因素(P<0.05),年龄,性别,肿瘤部位、KIAA1549-BRAF融合基因对生存率的影响无统计学意义。Cox回归分析结果显示,肿瘤切除率仍是影响PFS的独立危险因素(P<0.05)。结论手术完整切除是PA首选治疗方式。分子遗传学特征及正确的组织形态学判断对于PA的精确诊断具有重要作用。Objective To investigate the clinicopathological characteristics and molecular genetics changes of pilocytic astrocytoma,and to toanalyze the prognostic factors of PA patients.Methods The clinicopathological follow-up data and treatment information of 116 PA patients were collected,and the influence of different factors on the prognosis of patients was andlyzed.Results The main clinical manifestations of 116 PAs weve dizziness,headache and ataxia.Immunohistochemical staining showed that GFAP,Olig-2,ATRX and S-100 were positiveyly expressed,IDH1 was negatively expressed,most of NeuN was negatively expressed,proliferation index of Ki-67 was 1%-8%,p53 protein was weakly positive or negative express in the nucleus,and 1p/19q delection was not detected in most of the cases.The incidence of KIAA1549-BRAF fusion gene was significantly different in age and tumor location(P<0.05).Univariate log-rank analysis showed that the tumor resection rate was the influencing factors for progression-free survival of PA(P<0.05).Age,gender,tumor location and KIAA1549-BRAF fusion gene mutation had no significant effect on PFS.Cox regression analysis showed that tumor resection rate was still an independent risk factor for the prognosis of PA.Conclusion Complete surgical resection is the preferred treatment for PA.Molecular genetic characteristics and correct histomorphology are important for the accurate diagnosis of PA.

关 键 词：毛细胞星形细胞瘤 KIAA1549-BRAF融合 鉴别诊断 肿瘤切除 预后 

分 类 号：R736.6[医药卫生—肿瘤]