胶质肉瘤25例临床病理学特征及预后分析  

Clinicopathological features and prognosis of gliosarcoma in 25 cases

作　　者：钟晓妮 邓绮玲 樊漪波 王芳[2] 吴小延[2] ZHONG Xiaoni;DENG Qiling;FAN Yibo;WANG Fang;WU Xiaoyan(Department of Pathology,Shenzhen People's Hospital,Shenzhen 518000,China)

机构地区：[1]深圳市人民医院病理科,深圳518000 [2]华南恶性肿瘤防治全国重点实验室,广东省恶性肿瘤临床医学研究中心,中山大学肿瘤防治中心

出　　处：《临床神经外科杂志》2025年第2期174-180,共7页Journal of Clinical Neurosurgery

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

摘　　要：目的 探讨胶质肉瘤(GSM)的临床病理、分子遗传学特征并分析其预后相关因素。方法 收集中山大学肿瘤防治中心分子诊断科2014年6月—2024年7月确诊的25例GSM患者,分析其临床病理特点,结合患者的临床资料进行回顾性分析并随访,采用Kaplan-Meier法计算患者生存率,Log-rank检验分析不同因素对患者预后的影响。结果 25例GSM患者的肿瘤好发部位为幕上,其中颞叶有9例,额叶3例,顶叶3例,额颞叶、颞底和顶枕叶各2例,枕叶、丘脑、小脑和双侧侧脑室各1例;肿瘤直径1.2~8.0 cm,中位肿瘤大小4.5 cm;17例为原发性胶质肉瘤(PGS),8例为继发性胶质肉瘤(SGS)。免疫组织化学检测显示,胶质瘤细胞阳性表达GFAP,肉瘤细胞阴性表达GFAP且周围被网状纤维单独环绕,25例IDH1均为阴性,13例患者Olig-2阳性(13/18),ATRX蛋白均为阳性表达(15/15),p53突变型10例(10/19),MGMT甲基化3例(3/14),Ki-67阳性指数5%~95%;分子遗传学检测显示TERT基因启动子突变6例(6/12),BRAF基因V600E位点均为野生型(0/7),1p缺失19q无缺失2例(2/18),1p无缺失19q缺失1例(1/18),EGFR基因扩增1例(1/12),PTEN基因缺失1例(1/6);手术切除24例,活检1例,术后行放疗+替莫唑胺(TMZ)化疗17例(17/25),术后单纯放疗或单纯化疗4例(4/25),单纯手术4例(4/25);术后发生颅外转移5例(5/25),4例失随访,16例死亡。19例患者平均总生存期(OS)为16.57个月,无进展生存期(PFS)为8.47个月;单因素分析显示,患者性别、年龄、肿瘤大小等临床病理及分子特征对预后均无明显相关性(P>0.05),Log-rank分析结果显示,PGS患者的PFS和OS明显优于SGS患者(P<0.05),两者差异有统计学意义。结论 GSM具有双相组织学病理特点,该疾病发病率低,恶性程度高,患者预后较差,PGS患者预后明显优于SGS患者。Objective To investigate the clinicopathological and molecular genetic features of gliosarcoma(GSM) and analyze the prognostic factors.Methods A total of 25 patients diagnosed with GSM from June 2014 to July 2024 in the Molecular Diagnostics Department of Cancer Prevention and Treatment Center of Sun Yat-sen University were collected.The clinicopathological characteristics of the patients were analyzed,and the clinical data of the patients were retrospectively analyzed and followed up.The survival rate of the patients was calculated by Kaplan-Meier method.The effect of single factor analysis on prognostic factors of patients with different Log-rank test analysis.Results There were 25 patients with GSM.Supratentorium was the most common site of tumor,including 9 cases in temporal lobe,3 cases in frontal lobe,3 cases in parietal lobe,2 cases in frontotemporal lobe,base temporal lobe and parietal occipital lobe,and 1 case in occipital lobe,thalamus,cerebellum and bilateral lateral ventricles.The tumor diameter was 1.2-8.0 cm,and the median tumor size was 4.5 cm.There were 17 cases of primary gliosarcomas(PGS) and 8 cases of secondary gliosarcomas(SGS).Immunohistochemical tests showed that glioma cells expressed GFAP positively,and sarcoma cells expressed GFAP negatively and were surrounded by reticular fibers alone.IDH1 was negative in all 25 cases,13 patients were positive for Olig-2(13/18),and all had positive expression of ATRX protein(15/15).There were 10 cases of p53 mutation(10/19),MGMT methylation in 3 cases(3/14),with Ki-67 positive index ranging from 5% to 95%.Molecular genetic detection showed that 6 cases(6/12) of TERTgene promoter mutation,BRAF gene V600E mutation site were wild type(0/7),2 cases(2/18) of 1p deletion and 19q deletion,1 case(1/18) of 1p deletion and 19q deletion.EGFRgene amplification in 1 case(1/12),PTEN gene deletion in 1 case(1/6).There were 24 cases of surgical resection,1 case of biopsy,17 cases(17/25) of postoperative radiotherapy plus temozolomide(TMZ) chemotherapy,4 cases(4/25) of

关 键 词：胶质肉瘤 临床病理 分子病理 治疗 预后 

分 类 号：R739.41[医药卫生—肿瘤]