室管膜下巨细胞型星形细胞瘤的临床病理分析

目的探讨室管膜下巨细胞型星形细胞瘤的临床病理特征及预后。方法回顾性分析18例室管膜下巨细胞型星形细胞瘤的临床资料、光镜下特征和免疫组织化学染色(EnVision法)的特点。结果患者18例,平均年龄(18.2±12.4)岁(7~54岁),男∶女=2∶1;部位以侧脑室占绝大多数(16例,88.9%);11例(61.1%)伴有结节硬化症,以面部血管纤维瘤多见(8例,44.4%);症状以头痛、呕吐(11例,61.1%)最常见,其次为视力下降(3例,16.7%)。CT7例呈高密度,5例增强后强化;MRIT1WI等信号63.6%(7/11),T2WI高信号90.9%(10/11),增强后强化81.8%(9/11)。82.4%(14/17)获手术全切。随访4例,均存活,平均随访期3.5年(1~5年)。镜下见肿瘤细胞主要有核偏于一端、胞质丰富红染的梭形细胞,呈瓜子形的胖细胞以及节细胞样瘤细胞。免疫组织化学染色示梭形细胞以神经胶质标记如胶质纤维酸性蛋白(GFAP)为主(18/18,100%),而神经元标记如突触素主要在胖细胞、节细胞样瘤细胞表达(14/18,77.8%),16例(88.9%)MIB-1标记指数≤1%。结论室管膜下巨细胞型星形细胞瘤是具有独特组织病理学特点的良性肿瘤。好发于青少年。手术全切预后好。     

Long-term effects of transient cerebellar mutism after cerebellar astrocytoma or medulloblastoma tumor resection in childhood

Background Following cerebellar tumor resection, some patients develop transient cerebellar mutism (TCM). Although the mutism resolves, it is not known whether there are long-term motor speech deficits in patients with TCM that are in excess of those in individuals with cerebellar tumors who had not developed postoperative TCM.Methods Long-term survivors of cerebellar tumors resected in childhood who developed TCM were matched to survivors without TCM and to controls. Speech samples were formally analyzed by two speech pathologists.Results Tumor survivors who had TCM had significantly more ataxic dysarthric speech and slower speech than either those without TCM or controls and were more dysfluent than controls. Tumor survivors without TCM did not differ from controls on ataxic dysarthria or speech rate.Conclusions Survivors who had TCM showed more speech deficits than controls or survivors without TCM. The data suggest that speech deficits are chronic if not permanent sequelae of TCM.     

Association between the functional polymorphism in the matrix metalloproteinase-7 promoter and susceptibility to adult astrocytoma

To study the association between the A to G transition at the -181-bp position in the promoter of matrix metalloproteinase-7 gene (MMP-7-181A/G) and susceptibility to adult astrocytoma, the MMP-7-181A/G polymorphism was genotyped by PCR-RFLP analysis among 221 adult astrocytoma patients and 366 healthy controls in a population of northern China. The result showed that the overall distribution of the MMP-7 genotypes among astrocytoma patients and healthy controls was significantly different (P<0.001). Compared with the A/A genotype, the G/G genotype significantly increased the risk to the development of astrocytoma (age and gender adjusted OR=2.77, 95% CI=1.27-6.02), while the MMP-7 A/G genotype only marginally increased the risk of developing this cancer (age and gender adjusted OR=1.66, 95% CI=0.99-2.84). Stratification analysis showed that the G/G genotype significantly increased the risk of astrocytoma only among male subjects (age adjusted OR=3.24, 95% CI=1.12-9.41) and individuals younger than 45 years (age and gender adjusted OR=3.16, 95% CI=1.09-9.16). When stratified by histological grades, a significant higher risk for developing grade II astrocytoma was observed among individuals harboring the A/G genotype (age and gender adjusted OR=2.06, 95% CI=1.05-4.05), while an about 3-fold elevation of risk to develop grades II, III, and IV astrocytomas was observed among individuals with the G/G genotype. The present result, for the first time, suggested that the MMP-7-181A/G polymorphism might be associated with the susceptibility to adult astrocytoma.     

The genetic landscape of anaplastic astrocytoma

Anaplastic astrocytoma WHO grade III (A3) is a lethal brain tumor that often occurs in middle aged patients. Clinically, it is challenging to distinguish A3 from glioblastoma multiforme (GBM) WHO grade IV. To reveal the genetic landscape of this tumor type, we sequenced the exome of a cohort of A3s (n=16). For comparison and to illuminate the genomic landscape of other glioma subtypes, we also included in our study diffuse astrocytoma WHO grade II (A2, n=7), oligoastrocytoma WHO grade II (OA2, n=2), anaplastic oligoastrocytoma WHO grade III (OA3, n=4), and GBM (n=28). Exome sequencing of A3s identified frequent mutations in IDH1 (75%, 12/16), ATRX (63%, 10/16), and TP53 (82%, 13/16). In contrast, the majority of GBMs (75%, 21/28) did not contain IDH1 or ATRX mutations, and displayed a distinct spectrum of mutations. Finally, our study also identified novel genes that were not previously linked to this tumor type. In particular, we found mutations in Notch pathway genes (NOTCH1, NOTCH2, NOTCH4, NOTCH2NL), including a recurrent NOTCH1-A465Tmutation, in 31% (5/16) of A3s. This study suggests genetic signatures will be useful for the classification of gliomas.     

星形细胞肿瘤内部微结构与ADC值相关性研究

目的 探讨3T扩散张量成像(DWI)中表观扩散系数(ADC)值在不同级别星形细胞肿瘤中的差异及其与星形细胞瘤微血管密度和细胞密度的相关性.方法 对17例星形细胞肿瘤(其中Ⅰ、Ⅱ级4例,Ⅲ级5例,Ⅳ级8例)行DWI检查,测定不同级别星形细胞肿瘤实性部分ADC值,利用SPSS 11.0统计软件包,对不同级别星形细胞肿瘤AD...     

Malignant potential of pleomorphic xanthoastrocytoma

Pleomorphic xanthoastrocytoma (PXA) is a low-grade astrocytic tumour that occasionally progresses to a higher grade. We have extensively reviewed the literature on the potential for malignant transformation of PXA. An illustrative case of a PXA transforming to glioblastoma multiforme is presented.     

Adenovirus related lymphohistiocytic hemophagocytosis: Case report and literature review

IntroductionAdenoviral infection is a classic cause of lymphohistiocytic hemophagocytosis (LH) in bone marrow transplantation but is rare outside this setting.Case reportA 31-year-old female, with a history of treated mesencephalic astrocytoma, was hospitalized for fever, pancytopenia, elevated liver enzymes, hyperferritinemia and hypertriglyceridemia. Adenovirus viral load in blood was 7.3 × 10⁹ copies/mL. Bone marrow aspirate examination confirmed LH. The patient recovered without specific LH or adenovirus-directed treatment.ConclusionAdenovirus-related LH, common in bone marrow transplant recipients, should also be considered in patients with chemotherapy in solid tumors.     

鞍区青少年毛细胞星形细胞瘤的MRI诊断

目的　分析发生在鞍区的青少年毛细胞星形细胞瘤的MRI特点及临床发病特点。方法　经手术病理证实的鞍区青少年毛细胞星形细胞瘤 2 4例 ,回顾性分析其MRI表现。结果　青少年毛细胞星形细胞瘤在MRI表现上有如下特点 :(1)肿瘤在T1WI上表现为稍长T1、等T1、稍长T1与等混杂T1或长T1信号 ,在T2 WI上大多表现为长T2 信号 ,注射对比剂后 ,肿瘤实性部分可见显著强化 ;(2 )不规则分叶状 ,边界光滑锐利 ,几乎没有瘤周水肿 ;(3)瘤内多发微囊变 ,出血少见 ;(4)鞍上非偏心性生长 ,常长入垂体窝 ,突入第 3脑室底部引起幕上脑积水 ;(5 )沿视觉通路生长。此外 ,这些病人就诊时多有单侧性视力下降或失明 ,而大多没有下丘脑及垂体内分泌异常症状 ,仅 2例有多饮多尿表现。结论　鞍区青少年毛细胞星形细胞瘤有比较典型的MRI特点 ,结合患者的年龄、性别及临床发病特点 ,有助于其术前诊断     

Bax在星形细胞瘤中的表达及意义

目的　研究Bax基因在星形细胞瘤中的表达及其与肿瘤恶性程度的关系。方法　用免疫组化 (SABC)检测 31例星形细胞瘤Bax的蛋白表达。结果　 31例星形细胞瘤中 2 9例表达阳性 (93 5 % ) ,3例正常脑组织仅 1例有少量Bax阳性细胞 ,16例低级别 (Ⅰ～Ⅱ )星形细胞瘤中Bax表达强度高于 15例高级别 (Ⅲ～Ⅳ )星形细胞瘤 (P <0 .0 1) ,结论　Bax在星形细胞瘤中表达与星形细胞瘤分化有关 ,它可能参与了肿瘤细胞的凋亡。     

MDM2和p53在反应性及肿瘤性星形胶质细胞中的表达

目的：检测MDM2和p53蛋白在星形胶质细胞反应性增生与星形胶质细胞瘤中的表达，探讨二者在胶质瘤形成和发展中的作用及其相关性。方法：应用组织芯片和免疫组化染色技术检测正常脑组织、星形胶质细胞反应性增生、低级别（Ⅰ-Ⅱ级）和高级别（Ⅲ-Ⅳ级）星形胶质细胞瘤中MDM2和p53蛋白的表达情况。结果：正常脑组织中MDM2和p53蛋白均呈阴性表达；反应性增生组、低级别肿瘤组及高级别肿瘤组中MDM2蛋白的阳性率分别为32.7％（16／49）、59．2％（29／49）、80．0％（40／50）；p53蛋白的阳性率分别为27．3％（12／49）、57．1％（28／49）、82．0％（41／50）。二者阳性表达率均随着病变恶性程度的增加而升高，MDM2和p53在各实验组间的比较差异均有统计学意义（P〈0．05）；且MDM2和p53表达密切相关（P〈0．05）。结论：MDM2和p53在星形胶质细胞反应性增生及星形胶质细胞瘤中均呈不同程度的过度表达，且随着病变恶性程度的增加表达水平增高，MDM2扩增和p53突变是胶质瘤发生的早期事件，二者的联合检测可能会对星形胶质细胞反应性增生与低级别胶质细胞瘤的鉴别诊断以及星形胶质细胞瘤的早期诊断提供一定的依据。