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伴有TERT启动子突变的继发性胶质母细胞瘤16例临床病理分析

CLINICOPATHOLOGICAL FEATURES OF SECONDARY GLIOBLASTOMA WITH TERT PROMOTOR MUTATION:AN ANALYSIS OF 16 CASES
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摘要 目的探讨端粒酶逆转录酶(TERT)启动子突变阳性的继发性胶质母细胞瘤(sGBM)的临床病理特征。方法对我院2013年1月—2018年12月收治的45例sGBM患者的病理切片重新进行评估以明确诊断,通过Real-time PCR方法筛选出伴有TERT启动子突变的sGBM患者,对筛选出的sGBM患者的临床资料进行回顾性分析,并对肿瘤组织采用En Vision两步法进行免疫组织化学染色。结果筛选出的16例患者中,男10例,女6例,发病年龄38~70岁,中位年龄53岁,中位生存期18.0个月。患者临床表现多为头痛头晕、恶心呕吐、言语不清、肢体活动障碍等颅内占位性症状或体征。影像学检查表现:肿瘤平均直径为43.5 mm,多为混杂密度影,肿瘤周围水肿明显。组织学上肿瘤形态多样,包括细胞多形性、细胞核不典型性、核分裂数增多、小血管增生及坏死。免疫组织化学显示肿瘤细胞均表达ATRX和IDH1,12例表达GFAP,14例表达Olig-2和S100,Ki67阳性率约30%~80%。结论TERT启动子突变是sGBM的一种保护性因素;由于sGBM与多种肿瘤形态相似,诊断时应对临床病史、影像学资料、组织学形态、免疫组化指标及分子检测结果进行综合分析。 Objective To investigate the clinicopathological features of secondary glioblastoma(sGBM)with TERT promotor mutation.Methods The pathological sections of 45 patients with sGBM who were admitted to our hospital from January 2013 to December 2018 were reexamined to clarify diagnosis.Real-time PCR was used to screen out the sGBM patients with TERT promoter mutation,and a retrospective analysis was performed for the clinical data of these patients.The En Vision two-step immunohistochemical method was used for the staining of tumor tissue.Results Among the 16 patients screened out,there were 10 male patients and 6 female patients,with an age of onset of 38-70 years(median 53 years)and a median survival time of 18.0 months.Major clinical manifestations included the symptoms or signs of intracranial space-occupying lesions,such as headache and dizziness,nausea and vomiting,alalia,and limb activity disorder.Imaging examination showed a mean tumor diameter of 43.5 mm,with mixed-density shadow and obvious edema around tumor.The tumor had various histological manifestations,including cellular pleomorphism,nuclear atypia,increased mitosis,small vessel proliferation,and necrosis.Immunohistochemistry showed the expression of ATRX and IDH1 in tumor cells of all patients,as well as the expression of GFAP in 12 patients and the expression of Olig-2 and S100 in 14 patients,and the positive rate of Ki67 was about 30%-80%.Conclusion TERT promoter mutation is a protective factor against sGBM.Since sGBM has similar morphology as several types of tumor,a confirmed diagnosis should be made based on a comprehensive analysis of medical history,imaging data,histological morphology,immunohistochemical indices,and molecular detection results.
作者 李亚男 王继纲 丁莉 潘越 赵鹏 LI Yanan;WANG Jigang;DING Li;PAN Yue;ZHAO Peng(Department of Pathology,The Affiliated Hospital of Qingdao University,Qingdao 266003,China)
出处 《精准医学杂志》 2020年第1期45-48,共4页 Journal of Precision Medicine
基金 国家自然科学基金资助项目(81502272)。
关键词 启动区 遗传 末端转移酶端粒 突变 胶质母细胞瘤 肿瘤 继发原发性 病理学 免疫组织化学 诊断 Promoter regions,genetic Telomerase Mutation Glioblastoma Neoplasms,second primary Pathology Immunohistochemistry Diagnosis
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