伴发或不伴发神经纤维瘤病的视神经胶质瘤患儿的视觉诱发反应

视神经胶质瘤为一种生长缓慢的良性肿瘤,常伴发神经纤维瘤病,而神经纤维瘤病以儿童期较常见,其发病率为60/10万。神经纤维瘤病的中枢型虽比周围型少见,但如在2～10岁的儿童出现眼球震颤、眼球突出,视力障碍等,则应考虑伴有视神经胶     

神经纤维瘤病Ⅰ型伴发颈髓间变神经节细胞胶质瘤一例并文献复习

神经节细胞胶质瘤是一种混合成分的肿瘤,多见于颅内幕上.脊髓神经节细胞胶质瘤少见,同时伴发颈髓间变神经节细胞胶质瘤和神经纤维瘤病Ⅰ型( NF1)的病例鲜有报道.现将北京天坛医院神经外科中心诊治的1例10年随访并经病理证实的间变神经节胶质细胞瘤进行报告并文献复习.     

视交叉-下丘脑胶质瘤的临床诊治分析

目的探讨视交叉-下丘脑胶质瘤的临床特点及其诊治。方法回顾分析2001年6月至2007年6月我科收治的18例视交叉-下丘脑胶质瘤的临床表现、影像学特征及手术治疗情况。结果18例视交叉-下丘脑胶质瘤患者中，2～23岁16例，32岁和49岁各1例；2例患者伴发神经纤维瘤病Ⅰ型。常见首发症状为头痛。肿瘤次全切除1例，大部分切除13例，部分切除2例，仅活检2例。星形细胞瘤Ⅰ级16例，Ⅱ级2例。术后均辅以放疗和，或化疗。12例随访1～5年，存活9例，死亡3例。结论视交叉一下丘脑胶质瘤需与颅咽管瘤鉴别。手术以改善症状、明确诊断为目的。采取手术、放疗及化疗的综合治疗，患者预后较佳。     

多发椎管内占位起病的Ⅱ型神经纤维瘤病1例并文献复习

目的 探讨分析Ⅱ型神经纤维瘤病(NF2)的临床表现,特别是椎管内占位的特点、手术治疗的原则及疗效.方法 回顾性分析1例以多发椎管内占位起病的Ⅱ型神经纤维瘤病患者的临床资料,结合相关文献进行分析.结果 本例患者行多发椎管内占位切除后恢复良好,术后无明显并发症,术前症状得到缓解,随访未见肿瘤复发.结论 Ⅱ型神经纤维瘤病患者...     

脑干胶质瘤的手术治疗

脑干胶质瘤占成人脑肿瘤的2.4%,占儿童脑肿瘤的10%～20%.脑干肿瘤的75%是胶质瘤,任何年龄可以发病,发病高峰为7～9岁和40～50岁,男女比例大致相等.目前国内缺乏脑干肿瘤的流行病学调查资料.国外资料表明[1]:英国新诊断儿童桥脑弥散型胶质瘤每年为20～30例,美国为100～150例.美国儿童弥漫型桥脑胶质瘤发病率为0.18/10万人/年.王忠诚等[2]统计1980年初至2001年9月接受手术治疗的脑干胶质瘤311例,占同期手术治疗颅内肿瘤的1.3%.脑干肿瘤特别是脑干胶质瘤,手术治疗一直被人们所关注.     

视神经胶质瘤放疗后的Moyamoya症

小儿视神经通路胶质瘤系典型的低恶性胶质瘤,其病程难以预测,约1/3的视神经胶质瘤病人同时为神经纤维瘤病Ⅰ型(NF1),并伴有Moyamoya病症状。对视神经通路胶质瘤患者的放射治疗作用尚有争论。作者报道1971～1990年手术治疗的该种病例47例,其中5例放疗后发生Moyamoya征。47例中26例肿瘤侵犯视交叉,12例肿瘤集中在下丘脑,8例侵犯单侧视神经,1例侵犯双侧视神经。本文重点讨论视神经通路胶质瘤、NF1的放疗与Moyamoya征的关系。     

神经纤维瘤病Ⅱ型的MRI分析

目的探讨神经纤维瘤病Ⅱ型的MRI表现,提高对本病的认识。方法收集9例经临床及病理证实的神经纤维瘤病Ⅱ型进行分析、总结。结果双侧听神经瘤6例,其中合并多发脑膜瘤3例,多发神经鞘瘤2例,多发胶质瘤、神经纤维瘤1例;一侧听神经瘤合并侧脑室室管膜瘤及多发枕颈部皮下神经纤维瘤,合并多发脑膜瘤1例;1例脊膜瘤并侧脑室室管膜瘤。结论MRI是检查NF-II中枢神经系统病变理想的影像学检查方法,可较好的显示其多发性及多灶性病变。     

脑干胶质瘤的手术治疗

目的：研究探讨脑干胶质瘤手术适应征和手术方法。方法：总结我院自１９９０年以来采用显微外科手术治疗１５例脑干胶质瘤的经验。结果：１５例患者手术后病情好转为１０例，３例无变化，另２例病情加重死亡。结论：外生型脑干胶质瘤，局限型或有较大囊变、出血坏死的内生型脑干胶质瘤可考虑手术治疗。其中部分病人已获得较好效果。     

神经纤维瘤病的CT和MRI表现及诊断价值

目的探讨神经纤维瘤病的CT和MRI影像表现,并就二者的优劣进行比较,以提高诊断准确性。方法收集14例经临床和手术证实的神经纤维瘤病患者的CT和MRI资料,分析其影像学特点。结果 NF-2型患者表现为双侧听神经瘤,伴或不伴胶质瘤、脑膜瘤及脊膜瘤。NF-1型患者表现为单发或多发胶质瘤。CT图像中,双侧听神经瘤表现为等低密度,增强扫描呈不均匀性强化。多发脑膜瘤表现为等或略高密度,增强扫描呈均匀性明显强化。胶质瘤表现为边界不清的低密度,增强扫描无强化或轻度不均匀性强化。MRI图像中,双侧听神经瘤,呈等长T1、等长T2信号,增强扫描呈不均匀明显强化。脑膜瘤呈略长T1、略长T2信号,增强扫描呈均匀性明显强化,胶质瘤呈略长T1、略长T2信号,不均匀强化。结论神经纤维瘤病患者的颅脑和脊柱有特征性的CT、MRI表现,其中MRI技术能够全面准确显示病灶的分布、大小、形态和信号特征以及其与相邻组织结构的关系。     

2型神经纤维瘤病临床特征分析

目的 探讨2型神经纤维瘤病(NF2)的临床特征.方法 回顾性分析69例NF2的临床特征.结果 本组15例有家族史,平均发病年龄为27.3岁.发病年龄无性别差异,67例(97%)有听神经瘤,37例(54%)伴发脑膜瘤,31例(45%)伴发椎管肿瘤,33例(48%)以听神经瘤症状起病.13例(19%)以椎管病变起病.57例病人在我院行78次手术,1例死亡(死亡率1.4%).随访到40例,KtX560分以上21例,7例病人死亡.结论 NF2往往累及全身多个系统,需要由多学科协作进行个性化治疗.     

NF—κB和uPA在人脑胶质瘤中的表达

目的 究人脑胶质瘤中核转录因子-κB（NF—κB）和尿激酶型纤溶酶原激活物（uPA）的表达，探讨二者在胶质瘤侵袭性生长和恶性进展中的作用。方法 用免疫组化SP法检测52例脑胶质瘤和5例正常脑组织中NF—κB和uPA的表达和分布情况.结果 NF-κB及uPA在正常脑组织中均未见表达；在52例脑胶质瘤中NF-κB有41例表达，其在高级别胶质瘤中的阳性表达率高于低级别胶质瘤（P〈0．01）。uPA在52例胶质瘤中则全部表达，其在高级别胶质瘤中的表达强度明显高于低级别胶质瘤（P〈0．01）。NF-κB和uPA在胶质瘤中的表达呈正相关（r=0.542，P〈0．01）。结论 脑胶质瘤中，活化的NF-κB可促进uPA表达．从而促进胶质瘤的侵袭性和恶性进展。     

Neurofibromatosis type 1 in a pediatric population: Ste-Justine's experience

BACKGROUND: To date, few pediatric series of neurofibromatosis type 1 (NF-1) have been described in the literature even though it is the most frequently encountered phakomatosis. METHODS: We reviewed 987 charts of pediatric patients with a presumptive diagnosis of NF-1 who were evaluated at Ste-Justine hospital from January 1, 1991 to July 31, 2002. Patients who presented with two or more cardinal criteria were diagnosed with NF-1. Clinical and laboratory data were retrospectively collected, including: demographics, neuroimaging and presence or absence of associated symptoms or signs of NF-1. RESULTS: A total of 279 patients were diagnosed with NF-1. The mean age at diagnosis was 3.4 years. Ninety-nine percent of the patients had café au lait spots and 47% had a first degree relative with NF-1. Almost 60 percent (59.6%) of those seen by an ophthalmologist had Lisch nodules. Optic glioma was found in in 14.7%, cutaneous neurofibromas in 38.4%, plexiform neurofibromas in 24.7%, neurofibrosarcoma in 1.8%, learning disabilities in 39%, attention deficit disorder in 40.5%, osseous dysplasias in 7.2%, pseudoarthrosis in 3.6%, precocious puberty in 3.2% and short stature in 17.9%. Magnetic resonance, when performed, showed hyperintense T2 lesions in 87.1% of cases. The mean period of follow-up was 7.4 years. CONCLUSION: Neurofibromatosis type 1 is a multisystemic disorder associated with increased risk of malignancy. It can be diagnosed at a very young age and clinical follow-up is advised. To our knowledge, this is the largest single center study of NF-1 in a pediatric population.     

Hax-1对胶质瘤细胞增殖、迁移和侵袭的作用

目的 探讨造血干细胞特异性相关结合蛋白-1（Hax-1）对胶质瘤细胞增殖、迁移和侵袭的影响。方法 选择2018年9月至2019年6月手术切除并得到术后病理证实的胶质瘤组织35例和颅脑损伤内减压术切除的正常脑组织35例,采用qRT-PCR检测Hax-1 mRNA水平;同时检测胶质瘤细胞系（U87、A172、T98及U343）和人星形胶质细胞（NHAs）Hax-1 mRAN水平。使用Lipofectamine 2000法将Hax-1 siRNAs和阴性对照siRNA转染U87细胞构建Hax-1低表达细胞株,将Hax-1高表达质粒和PCDNA3.1空载质粒转染U343细胞构建Hax-1过表达细胞株,使用蛋白印迹法验证转染效果,采用CCK-8法检测细胞增殖,采用Transwell小室实验检测细胞迁移和侵袭,免疫印迹法检测NF-κB信号通路相关蛋白表达水平（NF-κB、CCND1、C-myc、MMP-2、MMP-9）。结果 胶质瘤组织Hax-1 mRNA水平明显高于正常脑组织（P<0.05）;胶质瘤细胞系（U87、A172、T98及U343）Hax-1 mRNA水平明显高于人星形胶质细胞（P<0.05）,其中U87细胞Hax-1 mRNA水平最高,U343细胞最低。U343细胞转染Hax-1过表达质粒后,Hax-1蛋白水平显著增高（P<0.05）,细胞增殖、侵袭、迁移能力均明显增强（P<0.05）,NF-κB p65及IκBα蛋白磷酸化水平以及CCND1、C-Myc、MMP-2、MMP-9蛋白表达水平明显增高（P<0.05）。U87细胞转染Hax-1 siRNA后Hax-1蛋白水平显著降低（P<0.05）,细胞增殖、侵袭、迁移能力均明显降低（P<0.05）,NF-κB p65及IκBα蛋白磷酸化水平以及CCND1、C-Myc、MMP-2、MMP-9蛋白表达水平明显降低（P<0.05）。结论 胶质瘤组织Hax-1呈高表达,明显促进肿瘤细胞增殖、侵袭和迁移,其机制可能与激活NF-κB信号通路有关。     

MMP-9与TIMP-1在脑胶质瘤中的表达及临床意义

目的探讨基质金属蛋白酶MMP-9和金属蛋白酶抑制剂TIMP-1在人脑胶质瘤中的表达及其与肿瘤临床生物学行为的关系。方法采用免疫组织化学PV9000通用二步法检测50例脑胶质瘤组织中MMP-9与TIMP-1的表达情况。结果随胶质瘤恶性程度增高MMP-9表达增强,TIMP-1表达减低,两者具有相关性,且差别具有统计学意义。结论 MMP-9、TIMP-1在胶质瘤中的表达与其恶性程度具有相关性,并可能评估其预后。     

脑胶质瘤卒中MRI诊断及鉴别诊断

目的探讨脑胶质瘤卒中MRI影像学特点，提高临床认识。方法对病理证实的12例胶质瘤卒中影像表现进行分析。结果间变性星形细胞瘤7例，多形性胶质母细胞瘤3例，少突胶质瘤1例，低级别胶质瘤1例。MRI表现7例肿瘤征象与出血征象并存；5例出血征象掩盖肿瘤组织。结论胶质瘤卒中MRI正确诊断率与瘤出血量相关，对瘤出血量大，掩盖肿瘤组织易误诊。应结合MRI信号及临床与其他出血性疾病鉴别。     

胶质瘤患者抑癌基因RASSF1A启动子区甲基化研究

目的探讨RASSF1A抑癌基因在胶质瘤组织及脑正常组织中甲基化程度及与临床特征的关系。方法46例脑胶质瘤组织及6例脑正常组织采自手术患者。用甲基化特异性聚合酶链反应（MS—PCR）方法检测46例胶质瘤（其中包括星形细胞瘤19例，室管膜瘤16例，胶质母细胞瘤11例）及6例脑正常组织中RASSF1A基因甲基化状态。并对RASSF1甲基化发生率与临床各因素之间的关系进行分析。结果（1）46例脑胶质瘤组织DNA标本中RASSF1A基因甲基化发生率为65．2％（30／46）；6例脑正常组织中RASSF1A基因启动子未发生甲基化；RASSF1A在胶质瘤和脑正常组织之间发生甲基化率比较差异有显著性，（P=0．017，P〈0．05）。在46例脑胶质瘤中RASSF1A有30例发生甲基化，其中低级别组14例（14／26），高级别组16例（16／20），两组之间甲基化率比较无明显差异，（P〉0．05）。其中星形细胞瘤，室管膜瘤，胶质母细胞瘤甲基化发生频率分别为63．2％（12／19），68．8％（11／16），63．6％（7／11）。在各组之间甲基化发生率比较均无统计学意义，（P〉0．05）。②RASSF1A基因甲基化程度与脑胶质瘤病理分型、肿瘤大小之间无显著相关性。结论RASSF1A在胶质瘤中有甲基化发生，在脑正常组织中未发生甲基化，检测胶质瘤中RASSF1A基因启动子区甲基化情况对临床判断肿瘤发生发展有指导意义。     

Central nervous system imaging in reevaluation of patients with neurofibromatosis type 1

We report the results of the reevaluation of 24 patients with neurofibromatosis type 1 (NF1) using central nervous system (CNS) imaging techniques. The first examination by computed tomography (CT) or magnetic resonance imaging (MRI) indicated the presence of optic glioma in three cases, unidentified bright objects (UBOs) in six, and a suspected right frontal tumor in one. In two patients optic glioma and UBOs were both present and in one of them a bulbar tumor was also suspected. Later imaging examinations revealed the appearance of optic glioma in three more cases and UBOs in nine. In two of these patients both optic glioma and UBOs were present. This study indicates that the likelihood of detecting imaging abnormalities in patients with NF1 increases when systematic follow-up is performed. Optic gliomas are characteristic of pediatric patients; they rarely give rise to clinical manifestations (1/6 cases) and in general progress very slowly. For these reasons, therapeutic strategy must be carefully considered and individually decided. UBOs are very frequent findings in pediatric patients with NF 1 and therefore they must be considered diagnostically relevant. They are not related to clinical manifestations and spontaneous regression has been observed. The nature of these imaging abnormalities is still unknown, but because they do not behave like tumors, useless and dangerous therapeutic procedures should not be employed.     

CHO PET功能显像:脑胶质瘤诊断和优化放化疗方案

目的 11碳-胆碱正电子发射断层扫描(11C-Choline PET/CT,CHO-PET)功能显像在脑胶质瘤诊断和优化放化疗治疗方案中的作用.方法 分析2008年1月至2009年6月经术后病理确诊的23例(其中WHO Ⅱ级9例、Ⅲ级9例、Ⅳ级5例)脑胶质瘤患者的CHO-PET功能显像结果,与同期MRI结构影像结果相比较,依据CHO-PET显像肿瘤生物靶区(BTV)优化放化疗治疗方案.结果 ①CHO-PET功能显像的病变靶区与正常脑组织对比度良好,肿瘤边界更清晰;②CHO-PET功能显像改变了10例(43.5%)患者的诊断及靶区范围,包换术后放疗前患者5例(31.3%);放疗后患者5例(71.4%).其中1例(Ⅲ级)肿瘤靶区(GTV)范围增大而扩大GTV放疗;1例(Ⅱ级)肿瘤复发,改定期复查为化疗;4例(Ⅱ级)术后肿瘤残留,改临床肿瘤靶区(CTV)放疗为CTV+GTV放疗;4例(1例Ⅲ级;3例Ⅱ级)未见肿瘤复发,改化疗为定期复查;③ CHO-PET对WHO Ⅱ、Ⅲ、Ⅳ级患者治疗方案的改变率分别为88.9%(8/9)、22.2%(2/9)、0(0/5);④ MRI对高级别胶质瘤患者(WHO III、Ⅳ级)的诊断符合率为85.7%(12/14).结论 CHO-PET功能显像对脑胶质瘤病变显示清楚,肿瘤边界清晰;有利于WHO II、III级患者的诊断;有利于优化治疗方案;有利于疗效的判断以及肿瘤复发与坏死的鉴别诊断.     

Co-existence of dual intracranial pathology clinical relevance of proton MRS

The co-existence of neuro-cysticercosis (NCC) and intracranial neoplasm in an individual is a rare entity. Atypical presentation of cerebral cysticercosis may mimic glioma, metastasis, cerebral abscess or vice versa. The dual existence of these two lesions have led to several postulates which may have clinical impact in due course of time i.e. NCC as an oncogenetic factor for glioma or similarity of antigen found in glioma and NCC etc. An adequate management of such cases poses a challenge to both imageologists as well as clinicians. Thus, a proper diagnostic evaluation is essential for successful management of such cases. MR spectroscopy (MRS), although still a clinical research tool, may be extremely useful for exclusion or confirmation of neoplastic lesions in such a clinical scenario. The findings of MRS in collaboration with imaging parameters may increase the diagnostic yield of a MR investigation. The authors encountered five cases of dual intracranial pathologies i.e. neurocysticercosis and glioma. MR spectroscopy was useful to arrive at a definitive diagnosis in such a situation.     

Accuracy and interobserver variation in the interpretation of computed tomography in solitary brain lesions

The clinical data and computed tomographic findings of 64 patients with solitary supratentorial brain lesions were presented to two panels of six experienced clinicians. The diagnoses predicted by these clinicians were compared with each other (interobserver variation) and with the definite diagnosis, which in almost all cases was based on histologic examination of the involved tissue (validity of predicted diagnosis). The interobserver agreement was only moderate. The predicted diagnoses agreed with the definite diagnoses in only 57% of cases. A high number of errors were made in distinguishing between high-grade and low-grade glioma and between high-grade glioma and cerebral metastasis, and in the detection of primary cerebral lymphoma. Possible implications of these findings for clinical practice are discussed.