成人室管膜瘤的临床及病理学特点

目的探讨成人室管膜瘤的临床及病理学特点。方法收集30例发生于成人的室管膜瘤，分析其临床及病理学特点，免疫组织化学EnVision^TM染色及电子显微镜观察形态学特征。结果患者临床表现多样，不同部位肿瘤患者症状有所不同。标本最常见的病理表现为血管周围假菊形团形成，瘤细胞呈放射状排列在血管周围，形成血管周围无细胞核区。部分标本还可见室管膜裂隙和室管膜菊形团。17例进行了免疫组织化学染色，结果显示大部分瘤细胞表达胶质纤维酸性蛋白（GFAP）、S-100和肿瘤细胞对中型丝（vimentin）；部分瘤细胞表达上皮细胞膜抗原（EMA），阳性信号主要分布于室管膜菊形团的腔面，呈线、点状分布。结论室管膜瘤是一种有特殊组织结构的神经上皮肿瘤，其最主要的组织病理学特点为血管周围假菊形团和室管膜菊形团，掌握其临床及病理学特点对该病的诊断及治疗有重要意义。     

室管膜下巨细胞星形细胞瘤的临床及病理特点分析(附2例报告)

目的探讨室管膜下巨细胞星形细胞瘤(SEGAs)的临床、病理特征和免疫组化标记及鉴别诊断。方法分析2例SEGAs患者的临床特点,观察组织病理切片和免疫组化标记。结果 2例SEGAs患者的发病年龄均小于20岁,肿瘤位于侧脑室壁,由肥胖型肿瘤细胞/节细胞样巨细胞和长梭形肿瘤细胞组成,均伴钙化。免疫组化显示,肿瘤细胞表达GFAP、S-100、vimentin、Map-2、Nestin、SOX-2、Caspase-3、Caspase-9、Bax,不表达Neun、CD133、CD34、Ki-67。结论 SEGAs常伴结节硬化复合症,可能起源于多潜能的神经干细胞,存在凋亡机制的激活;需与肥胖细胞型星形细胞瘤、室管膜瘤、脉络丛乳头状瘤、室管膜下瘤进行鉴别。     

脑室内伸长细胞型室管膜瘤的临床病理学特征:病例报告并文献综述

目的 探讨脑室内伸长细胞型室管膜瘤的临床病理学特征.方法 对1例右侧侧脑室内伸长细胞型室管膜瘤患者的临床、影像学、病理学和免疫组织化学特征进行回顾性分析,并复习相关文献.结果 患者临床表现为无明显诱因的头痛,呈进行性加重;MRI检查提示右侧侧脑室内囊实性病灶.经手术完全切除,大体组织呈鱼肉样,约2 cm×3 cm×1 cm大小,部分区域脑组织呈沙砾感.组织病理学检查长梭形肿瘤细胞呈单极或双极伸长,由簇状梭形细胞形成的细胞核密集区及细胞突起呈束状排列的纤维样无核区构成,未见核分裂象及坏死灶,围绕血管分布形成血管周围假菊形团;部分区域可见血管壁玻璃样变和钙化小体.免疫组织化学染色肿瘤细胞胶质纤维酸性蛋白、S-100蛋白、波形蛋白、巢蛋白和神经微丝表达阳性;上皮膜抗原呈局灶性核旁点状阳性反应;突触素和神经元核抗原表达阴性;MIB-1标记指数约为0.50%.文献报道国外29例伸长细胞型室管膜瘤,其中发生于脑室内6例,组织病理学和免疫组织化学特征与本文病例基本一致.电子显微镜观察肿瘤细胞呈室管膜细胞的典型特征,包括细胞突起内可见大量的中间纤维丝、明显的细胞间连接、大量位于细胞表面的纤细的微绒毛以及微绒毛构成的小管状结构.结论 伸长细胞型室管膜瘤是一种较少见的起源于室管膜伸长细胞的室管膜瘤亚型,组织病理学上应与其他由梭形细胞组成的神经系统肿瘤相鉴别,如毛细胞型星形细胞瘤、纤维型星形细胞瘤、神经鞘瘤和孤立性纤维性肿瘤等,免疫组织化学染色及电子显微镜下的特征性改变有助于诊断与鉴别诊断.     

儿童脑肿瘤病理学研究进展

儿童脑肿瘤发病率一直高居儿童实体肿瘤的首位,与成人脑肿瘤相比,具有独特的临床病理学特征和分子发生机制。儿童脑肿瘤的正确诊断与分型对肿瘤的个体化治疗和提高患儿生存率具有重要意义。随着研究的不断深入,对儿童常见脑肿瘤如毛细胞型星形细胞瘤、室管膜瘤、髓母细胞瘤、非典型畸胎样/横纹肌样肿瘤等有了一些新的认识,本文对其病理学研究进展进行简要综述。     

室管膜下巨细胞型星形细胞瘤

目的探讨室管膜下巨细胞型星形细胞瘤的病理、临床表现、影像学（CT、MRI）、诊断及治疗,以便提高诊断率和治愈率。方法回顾分析自1996年9月至2004年8月收集的12例室管膜下巨细胞型星形细胞瘤的临床特点,头颅CT、MRI及病理学特征。结果（1）室管膜下巨细胞型星形细胞瘤好发于青少年儿童,男性多于女性,以＂三联征＂和不同程度神经系统缺失为特征的首发临床表现。本组12例中5例伴发结节性硬化综合征。（2）影像学多数病例头颅CT表现侧脑室室管膜下或脑室内门氏孔附近呈椭圆形或不规则结节状较均匀低密度肿块,少数为等或高密度,伴室管膜下多发点状钙化。MRI常表现等T1、等T2,少数出现T1高信号、T2低信号。病变周围没有或很少水肿。CT或MRI增强扫描病变出现均匀强化。（3）临床诊断应与室管膜下室管膜瘤、室管膜下结节、室管膜瘤及脉络丛乳头状瘤等相鉴别。（4）只要全切除,术后不必放、化疗。结论典型病例较易诊断,绝大多数室管膜下巨细胞型星形细胞瘤为WHOⅠ级,只要全切除预后良好。     

侧脑室室管膜下室管膜瘤的诊断与治疗

目的研究侧脑室室管膜下室管膜瘤临床与影像学特点及其手术治疗效果,探讨其诊断及处理方法.方法回顾性分析了本科1998年5月至2003年5月间,12例经手术病理证实的侧脑室室管膜下室管膜瘤病例.结果侧脑室室管膜下室管膜瘤多见于中年,影像学表现为:CT平扫呈等或低密度,增强扫描强化不明显;MRI T1WI呈等或略低信号,T2WI呈高信号;MRI增强后见肿瘤无明显强化.手术全切11例,次全切除1例.随访9例,均无复发.结论侧脑室室管膜下室管膜瘤好发于中年.临床上遇到较长的病史,CT平扫呈等或低密度,MRI T1WI像呈等或略低信号,T2WI像呈高信号;CT、MRI增强后见无明显强化,位于侧脑室内肿瘤,应该考虑侧脑室室管膜下室管膜瘤的诊断.手术全切肿瘤,预后好,术后无需放疗.     

腰椎椎管内副神经节瘤的临床表现

目的总结腰椎椎管内副神经节瘤的临床特点。方法回顾性分析5例腰椎椎管内副神经节瘤的临床资料,术前诊断为室管膜瘤1例,神经鞘瘤4例。均采用脊柱后正中入路手术切除肿瘤。结果所有病人均获得肉眼或镜下全切除。术后临床表现不同程度缓解4例,仍有腰腿痛1例。术后未出现明显的神经系统并发症。所有病例均经神经病理学证实为副神经节瘤。免疫组化:嗜铬颗粒素A(CgA)阳性,胶质纤维酸性蛋白(GFAP)阴性,细胞核增殖相关抗原Ki-67的单克隆抗体(MIB-1)的指标指数(LI)为2%。经MRI随访3例,时间9～24个月,均未复发,有较好的生活质量。结论腰椎椎管内副神经节瘤的临床症状及影像学检查无特异性表现,其确诊依靠病理学检查,手术全切除是治疗椎管内副神经节瘤的首选方法,预后良好,复发率低。     

异位脉络丛癌(附1例报告及文献复习)

目的介绍脉络丛乳头状癌的病理和免疫组化特征。方法对一例脉络丛乳头状癌患者的临床表现、组织形态学和免疫组化染色进行分析,并结合文献对本病的诊断、鉴别要点进行了探讨。结果脉络丛乳头状癌的组织学形态特点:由柱状上皮围绕毛细血管、纤维组织所形成的乳头样结构。瘤细胞有异型,可见核分裂相。免疫组化示细胞角蛋白(CK)阳性,胶质纤维酸性蛋白(GFAP)、S-100及波形蛋白(Vimentin)灶性阳性,上皮膜抗原(EMA)、突触素(Syn)、神经元特异性烯醇化酶(NSE)、神经微丝(NF)及均为阴性。Ki67:>20%。PAS染色阴性。结论脉络丛乳头状癌的诊断主要依靠其组织学形态和免疫组化标记;常需与室管膜瘤、转移癌及乳头瘤型脑膜瘤鉴别。     

室管膜母细胞瘤病理形态学进展

本文综述室管膜母细胞瘤的命名,发病率。并对该瘤组织形态学特征,诊断和鉴别诊断要点及组织发生学进行了探讨。目的是以求进一步提高对这种少见肿瘤的认识,使更多室管膜母细胞瘤得到正确诊断和治疗。     

儿童室管膜瘤的临床研究进展

室管膜瘤是一种原发于神经上皮的中枢神经系统肿瘤，病变累及脑和脊髓，多发于儿童。基因分型的新分类方法，为室管膜瘤的治疗和预后评估提供了更为可靠的依据。室管膜瘤对辅助治疗的敏感性低是造成患儿预后较差的重要原因之一。该文对近年来儿童室管膜瘤的分型、诊断、治疗策略等进行综述。     

Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation

We report a 49-year-old woman with a history of progressive gait disturbance, white matter disease, and cerebrospinal fluid immunoglobulin abnormalities who met criteria for primary progressive multiple sclerosis and whose son died at age 10 years of an unknown congenital neurodevelopmental disorder. Sequencing of the proteolipid protein 1 gene showed a novel mutation, Leu30Arg (c.89TG), in the mother and son. Pelizaeus-Merzbacher disease is the cause of death in the son and explains the mother's adult-onset neurological disorder. This case goes against dogma that mothers of severely affected sons are asymptomatic as adults and expands the differential diagnosis of primary progressive multiple sclerosis to include proteolipid protein 1 gene mutations.     

p14ARF protein (FL-132) immunoreactivity in intracranial ependymomas and its prognostic significance: an analysis of 103 cases

Although clinical and histological criteria for ependymoma prognosis are recognized, studies have reported contradictory results. Prognostic significance based on immunohistochemistry of ependymomas has been described in a few studies and a strong prognostic value of p53 aberrant expression has been established. Recently, p53 regulation has found to be dependent on the function of the pl4ARF gene product, which has been shown to be critically involved in human carcinogenesis. In this study we have examined patients with intracranial ependymomas (n=103) for immunoexpression of the novel antibody FL-132 to human pl4ARF protein. We found that: (1) the polyclonal FL-132 antibody seems to be suitable for studying pl4ARF protein status in routinely processed and paraffin-embedded specimens; (2) decreasing pl4ARF protein expression is associated with patterns of ependymoma biological aggressiveness, i.e., increasing tumor grade, elevated growth fraction and p53 protein accumulation; however, there was no any association between p14 and MDM2 immunoexpression in ependymomas; (3) although the biological events underlying pl4ARF inactivation in ependymal neoplasms are still unclear, FL-132 immunohistochemistry appears to be useful for assessing an individual prognosis in these tumors; when the p14 score was considered as "high" versus "low" (cut-off p14 labeling index at 10%), it represented an independent prognostic factor in both univariate and multivariate analyses (hazard ratio -3.56; P=0.0003); and (4) most beneficial information for evaluation of malignant ependymoma outcome should be elicited from simultaneous immunohistochemical investigation of p14 ARF and p53 in tumor specimen.     

A novel Cx32 mutation causes X-linked Charcot-Marie-Tooth disease with brainstem involvement and brain magnetic resonance spectroscopy abnormalities

Abstract The objective of this study was to study genetic and phenotypic features of a family with X-linked Charcot-Marie-Tooth consisting of a healthy father, affected mother, two affected sons and one healthy one. A detailed electrophysiological and neuroimaging study, along with sequencing of the Cx32 gene, was performed in all family members. A novel Cx32 123 G>C mutation, determining an aminoacid variation (Glu41Asp), was found in the mother and the affected sons. An alteration in brainstem evoked potentials was found in the mother and one affected son. The affected son, who underwent magnetic resonance imaging, showed symmetrical hyperintensities in paratrigonal white matter, not found in his heterozygous mother, while both subjects exhibited alterations in brain metabolite ratios derived from localised proton-magnetic resonance spectroscopy. These data extend previous findings about central nervous system involvement in Cx32 mutated subjects and further support a functional role of the protein expression in oligodendrocytes.     

Multiple Spinal Cord Recurrences of an Intracranial Ependymoma after 14 Years

Ependymoma can spread via cerebrospinal fluid, but late spinal recurrences of intracranial tumor are very rare. We describe a case of a 33-year-old male who presented with multiple, delayed, recurrent lesions in the spinal cord from an intracranial ependymoma. The patient underwent gross total resection and postoperative radiation therapy 14 years prior to visit for a low grade ependymoma in the 4th ventricle. The large thoraco-lumbar intradural-extramedullary spinal cord tumor was surgically removed and the pathologic diagnosis was an anaplastic ependymoma. An adjuvant whole-spine radiation therapy for residual spine lesions was performed. After completion of radiation therapy, a MRI showed a near complete response and the disease was stable for three years.     

Clinicopathological features of myxopapillary ependymoma

Myxopapillary ependymoma (MPE) is a rare and distinct variant of ependymoma with a tendency for local recurrence and metastasis. Its clinicopathological spectrum is heterogenous, underscoring the need to understand and characterize MPE for better diagnosis and treatment. The purpose of this study was to explore the tumor biology and assess the management of patients with MPE. Tumors from a cohort of 19 patients were analyzed by light microscopy, electron microscopy, immunohistochemistry and fluorescence in situ hybridization (FISH). Clinical characteristics, therapeutic options and clinical follow-up data were also analyzed. Back pain was the most common presenting symptom. The main pathological morphology observed was papillae embedded in a myxoid background, but other rare morphologies were also present. Immunostaining revealed epidermal growth factor receptor (EGFR) expression in four MPE, while FISH for EGFR was negative. No correlation between tumor recurrence and EGFR overexpression was found. Ultrastructural examination revealed adherens junctions and intracytoplasmic lumina with microvilli. Patients with gross-total resection (GTR) had no tumor recurrence (p = 0.021). Also, patients with subtotal resection (STR) followed by radiotherapy showed a higher local control rate than patients with STR alone (p = 0.043). The diagnosis of MPE should be made considering the histology, immunohistochemistry, imaging studies and anatomical site. GTR of the tumor or STR followed by radiotherapy are more likely to avoid tumor recurrence than STR alone. Based on our findings, there is no correlation between tumor recurrence and EGFR expression.     

An unfortunate family: terminal illness and the altering of the attachment bond

This article emphasizes the value of a therapeutic presence in terminal death situations. An unusual clinical case illustrates the point. The presenting issue was aggression between an adult son and father. It soon became apparent, however, that this son was profoundly enmeshed with his mother. During the course of family therapy the father died, and then the mother was diagnosed with cancer. The therapist changed therapeutic goals and attended to the relationship between mother and son. He made home visits to the mother and the surviving son. She seemed to die peacefully and the son moved on with his life, which prior to the death of his mother would not have appeared likely because of his profound dependence on her. Resolving pathological attachment is not easy. Attachment theory refers to the affectional bonds or attachments, initially between child and parent and later between adult and adult. It is suggested that terminal illness and death can, with help of a therapist, alter this attachment bond, even though the literature on adult dependency and attachment does not refer to death in this manner.     

黏液乳头型室管膜瘤9例临床病理分析

目的探讨黏液乳头型室管膜瘤的临床病理特征、鉴别诊断及治疗与预后。方法回顾性分析9例黏液乳头型室管膜瘤病人的临床资料,行组织学观察及免疫组织化学分析。结果 9例肿瘤均发生于脊髓圆锥、马尾终丝区,典型病理形态为立方形或梭形肿瘤细胞,以乳头放射状结构排列在血管黏液样间质轴心周围,大量黏液聚集在血管和瘤细胞之间或微囊内,伴血管壁增厚、玻璃样变;瘤细胞大小、形态较一致,核分裂像少见或无。免疫组织化学显示肿瘤细胞胶质纤维酸性蛋白(GFAP)、vimentin及S-100阳性,细胞角蛋白(CK)及上皮膜抗原(EMA)阴性。病人均手术全切,术后辅助放疗2例。6例随访17个月～5年,MRI复查仅1例复发。结论黏液乳头型室管膜瘤特征性发病部位、形态学特征及免疫表型是其诊断和鉴别诊断要点,肿瘤全切后预后良好。     

Hereditary episodic adynamia. Gamstorp's disease]

The authors report a family in which the mother and her one son had typical eipsodes of flaccid muscular paralysis with raised serum potassium level during the episode. In the period between these episodes only myotonia was observed. Histological examinations and EMG confirmed the diagnosis. Myotonia was present in two other siblings.     

Independent Contributions of Early Positive Parenting and Mother–Son Coercion on Emerging Social Development

In the current study, we explored associations between parent–child coercion and positive parenting in the toddler period in relation to children’s social-behavioral development during the school-age period. The data were drawn from the Pitt Mother & Child Project, a sample of 310 low-income, ethnically diverse boys. Drawing on tenets of both attachment and social learning theory, it was hypothesized that coercive mother–son interaction would lead to reductions in positive maternal parenting in the toddler period, and that both positive parenting and mother–son coercion in the toddler period would contribute to children’s conduct problems at school entry and lower social skills and peer rejection in middle childhood. The results were largely confirmed, such that mother–son coercive interaction at 18 months was related to decreases in positive parenting at 24 months. Additionally, mother–son coercive interaction and positive parenting at 24 months were linked to child conduct problems at age 5, which in turn predicted child social skills and peer rejection during middle childhood. In addition to indirect effects through child conduct problems, mother–son coercion continued to be independently related to school-age peer rejection. The findings are discussed with respect to the importance of early coercive interactions in the growth of child social-behavioral development from early to middle childhood.