Volume 28, No. 1/2009(Jan/Feb)
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 Clinical Neuropathology
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Tumor
Atypical teratoid/rhabdoid tumor of the central nervous system in an 18-year-old patient
V. Samaras, A. Stamatelli*, E. Samaras*, I. Stergiou, P. Konstantopoulou, V. Varsos, A.R. Judkins, J.A. Biegel, and C. Barbatis
Abstract
V. Samaras1, A. Stamatelli2*, E. Samaras3*, I. Stergiou4, P. Konstantopoulou4, V. Varsos3, A.R. Judkins5, J.A. Biegel5,6 and C. Barbatis1
1Department of Pathology, Hellenic Red Cross Hospital, 21st Department of Pathology, University of Athens Medical School, 3Department of Neurosurgery, Hellenic Red Cross Hospital, Athens, 4Department of Radiology, General Hospital of Lamia, Lamia, Greece, 5Department of Pathology, University of Pennsylvania School of Medicine, The Children’s Hospital of Philadelphia and 6Department of Pediatrics, University of Pennsylvania School of Medicine, The Chrildren’s Hospital of Philadelphia, Philadelphia, PA, USA
Objective: Atypical teratoid/ rhabdoid tumors are aggressive neoplasms of the central nervous system occurring mainly in the early childhood and rarely in adults. We described a case of this tumor in an 18-year-old male patient without previous medical history. Material and methods: The neoplasm was localized in the right frontotemporal area of the brain and was totally excised. The specimen was fixed in formalin and embedded in paraffin. The histological and immunohistochemical features of the neoplasm were assessed, while sequencing analysis as well as interphase fluorescence in situ hybridization (FISH) were performed. Results: Histological and immunohistochemical analysis demonstrated atypical rhabdoid cells strongly and diffusely positive for EMA and Vimentin as well as focally immunoreactive for SMA and GFAP. Additionally, though no abnormalities detected in the coding sequence of the INI1 gene, interphase FISH studies were consistent with a homozygous deletion of the INI1 gene in the majority of examined nuclei. INI1 immunostaining demonstrated diffuse loss of nuclear INI1 expression in tumor cells. Taken together, the results were consistent with a diagnosis of atypical teratoid/rhabdoid tumor (ATRT). Conclusions: 26 previous cases of ATRT have been reported in adults, thus far. To our knowledge, this is the eighth case of an ATRT reported in an adult patient having genetic confirmation and the first one in which the tumor is, partly, localized in the right temporal area of the brain. This unusual presentation underlines the necessity of considering this devastating neoplasm in the differential diagnosis of malignant brain tumors of young adults.Correspondence to:
V. Samaras, MD; Department of Pathology, Hellenic Red Cross Hospital, 1 Red Cross and Athanasaki, 11526 Ambelokipi, Athens, Greece
Email: vassilissamaras@yahoo.gr
Tumor
Classification of oligodendroglial tumors based on histopathology criteria is a significant predictor of survival – clinical, radiological and pathologic long-term follow-up analysis
J.M. Sepulveda Sanchez, J.C. Martinez Montero, R. Diez-Lobato, A. Hernandez-Lain, A. Cabello, A. Ramos, P. Gonzalez Leon and J.R. Ricoy Campo
Abstract
J.M. Sepulveda Sanchez1, J.C. Martinez Montero2, R. Diez-Lobato3, A. Hernandez-Lain4, A. Cabello4, A. Ramos5, P. Gonzalez Leon3 and J.R. Ricoy Campo4
1Medical Oncology Service, 2Pathology Department, “Ramón y Cajal”, 3Neurosurgery Service, 4Neuropathology Division and 5Neuroradiology Division, University Hospital, “12 de Octubre” Madrid, Spain
Background: The clinical course of oligodendroglial tumors is variable and there is a lack of consensus with regard to precisely diagnose which minimal criteria are required to make a diagnosis of a high-grade oligodendrial tumor. The aims of the present study are to assess pathologic factors with prognostic significance, in addiction to clinical and neuroradiologic variables, in an attempt to identify reproducible histological parameters that are useful for classification of oligodendroglial tumors. Methods: 80 oligodendroglial tumors diagnosed between 1977 and 2004 were analyzed. To make a diagnosis of anaplastic tumor we used reproducible parameters: endothelial proliferation, high cellularity, increased mitotic activity and necrosis. Oligoastrocytomas (mixed gliomas) were diagnosed when the astrocytic component was clearly identified as part of the neoplastic cell population. Survival univariate analysis was made constructing survival curves using Kaplan-Meier method and comparing subgroups by log-rank probability test. A Cox regression model was made for multivariable analysis. Results: The histologic diagnosis was low-grade oligodendroglioma in 35 patients (43.75%), anaplastic oligodendroglioma in 23 patients (28.75%), low-grade oligoastrocytoma in 11 patients (13.75%) and anaplastic oligoastrocytoma in 11 patients (13.75%). Median overall survival of the whole series was 80 months. The median overall survival of oligodendroglioma, anaplastic oligodendroglioma, oligoastrocytoma and anaplastic oligoastrocytoma was 148, 105, 47 and 7 months, respectively (p < 0.0001). Multivariate analysis revealed that age, Karnofsky performance status, histological grade and histological diagnosis (oligodendroglioma vs. oligoastrocytoma) were independently associated with survival. Conclusions: Clear cut histopathological criteria (endothelial proliferation, high cellularity, mitotic activity and necrosis) allow to establish different oligodendroglial tumor entities with distinct survival outcome.Correspondence to:
Dr. J.M. Sepulveda Sanchez; Servicio de Oncologia Medica, Hospital Universitario “12 de Octubre”, Avenida de Córdoba S/N, 28041 Madrid, Spain
Email: jmsepulveda76@gmail.com
Tumor
Expression of leucine-rich repeats and immunoglobulin-like domains (LRIG) proteins in human ependymoma relates to tumor location, WHO Grade, and patient age
W. Yi, H. Haapasalo, C. Holmlund S. Järvelä, O. Raheem, A.T. Bergenheim, Håkan Hedman and R. Henriksson
Abstract
W. Yi1, H. Haapasalo2, C. Holmlund1 S. Järvelä2, O. Raheem2, A.T. Bergenheim3, Håkan Hedman1 and R. Henriksson1
Departments of Radiation Sciences, 1Oncology 3Neurosurgery, University Hospital, Umeå, Sweden and 2Department of Pathology, Centre for Laboratory Medicine, Tampere University Hospital, Finland
Three human leucine-rich repeats and immunoglobulin-like domains (LRIG1-3) genes and proteins have recently been characterized. LRIG1 has been shown to be a suppressor of tumor growth by counteracting the signaling of epidermal growth factor receptor (EGFR) family members, including EGFR (ERBB1). Expression of LRIG proteins seems to be of importance in the pathogenesis of astrocytic tumors. In this study, the expression of LRIG1-3 was evaluated in 51 human ependymomas by immunohistochemistry. LRIG proteins were detected in all ependymomas analyzed, however, with a pronounced heterogeneity in expression and subcellular localization. Higher cytoplasmic immunoreactivity of LRIG1 correlated with older patient age and higher LRIG1 nuclear immunoreactivity with lower WHO Grade. LRIG1 displayed a stronger immunoreactivity in the cytoplasm and nuclei in spinal ependymomas than in the posterior fossa or supratentorial ependymomas, while perinuclear LRIG3 was more highly expressed in supratentorial than in infratentorial ependymomas. The indications that expression and subcellular localization of LRIG proteins could be pathogenetically associated with specific clinicopathological features of ependymoma tumors might be of importance in the carcinogeneses and tumor progression of human ependymomas.Correspondence to:
R. Henriksson; Department of Radiation Sciences, Oncology, Umeå University, 901 85 Umeå, Sweden
Email: roger.henriksson@onkologi.umu.se
Infectious disease
Progressive multifocal leukoencephalopathy – incidental finding in the forensic neuropathological examination
J. Lucena, X. Gironés, A. Rico, M. Santos, M. Blanco, R. Marin, E. Barrero and F.F. Cruz-Sánchez
Abstract
J. Lucena1, X. Gironés2, A. Rico1, M. Santos1, M. Blanco1, R. Marin1, E. Barrero1 and F.F. Cruz-Sánchez2
1Forensic Pathology Service, Institute of Legal Medicine, Seville, and 2Institute of Neurological and Gerontological Sciences, International University of Catalonia, Barcelona, Spain
Progressive Multifocal Leukoencephalopathy (PML) is a fatal demyelinating disease of the central nervous system (CNS) caused by the human virus JC (JCV), a small DNA virus which belongs to the subfamily of polyomaviruses. JVC infection is widely extended in the human population in asymptomatic patients; however, in severely immunocompromised patients the virus is able to replicate itself and reach the brain causing PML. It is an extremely rare disease in patients with a competent immune system and few cases have been described in medical literature. We report the case of an elderly immunocompetent man, with no pathological antecedents, who died of sepsis 50 days after suffering extensive and severe flame burns. In the forensic autopsy, a PML was discovered as an incidental finding in the neuropathological examination that was not detected during his time in hospital. Diagnosis was confirmed by the detection of JCV in the brain by in situ hybridization. Possible pathophysiological mechanisms for the reactivation of the JCV and the rapid evolution to the fatal brain demyelinating lesions are discussed. One of the main clinical implications of this case is that immunocompetence should not be considered as an exclusion criterion for the diagnosis of PML.Correspondence to:
J. Lucena, MD, PhD; Forensic Pathology Service, Avenida Sánchez Pizjuan s/n, 41009 Seville, Spain
Email: joaquin.lucena@gmail.com
Infectious disease
Evidence for frequent focal and diffuse acute axonal injury in human bacterial meningitis
J. Gerber, R.-C. Seitz, S. Bunkowski, W. Brück and R. Nau,
Abstract
J. Gerber1, R.-C. Seitz1, S. Bunkowski1, W. Brück2 and R. Nau1,3
Departments of 1Neurology and 2Neuropathology, University of Göttingen, and 3Department of Geriatrics, Evangelisches Krankenhaus Göttingen-Weende, Göttingen, Germany
Aims: We aimed at quantifying acute axonal injury in victims of bacterial meningitis. Methods: The brains of 26 autopsies with bacterial meningitis and of 10 control cases were studied by histology and quantitative immunohistochemistry for amyloid-beta precursor protein (APP). Results: Mild to severe axonal injury in the white matter was present in 25 of 26 victims of meningitis. The area of axonal damage ranged from 0.0% to 1.38% (median = 0.08%, mean = 0.36%) of the total area studied in each individual case. In 4 of 10 age- and sex-matched control brains small areas also stained for APP (p = 0.0007). Axonal injury in meningitis was most prominent in the basal ganglia and pons, followed by the hippocampal formation, neocortex and the cervical spinal cord. The cerebellum was least affected. Conclusion: Axonal injury is a frequent complication of bacterial meningitis probably contributing to long-term sequelae in survivors.Correspondence to:
R. Nau, MD; Department of Geriatrics, Evangelisches Krankenhaus Göttingen-Weende, An der Lutter 24, 37075 Göttingen, Germany
Email: rnau@gwdg.de
Neurodegeneration
Alzheimer-type neuropathological changes in morbidly obese elderly individuals
R.E. Mrak
Abstract
R.E. Mrak
Department of Pathology, University of Toledo College of Medicine, Toledo, OH, USA
Objective: Middle age obesity increases risk for Alzheimer disease (AD). This study evaluated neuropathological changes in morbidly obese patients ranging in age from 21 – 70 years. Methods: 12 autopsied morbidly obese patients (>= 136 kg, BMI 45.3 – 81.1, 7 male, 5 female, ages 21 – 70), without cognitive impairment, were compared to 10 non-obese controls (52 – 106 kg, BMI 17.4 – 32.5, 8 male, 2 female, ages 29 – 74), and 3 AD controls (1 male, 2 female, ages 63 – 78). Standard hippocampal sections were stained for Bielschowsky, Abeta (4G8), tau (AT8), or AbetaPP (monoclonal, Pierce) and evaluated using semiquantitative criteria. Results: Obese patients had normal-sized brains, but larger hearts (713 ± 273 vs. 438 ± 71 g, p < 0.01). Only rare brain lesions were noted in any patients < 65 years. Obese patients > 65 years showed high levels of all indices, in some cases comparable to those seen in AD. Compared to non-obese, non-AD controls, the differences in tau and AbetaPP expression (but not Abeta) were significant (p < 0.05, Mann-Whitney U-test). Conclusion: Alzheimer-type neuropathological changes were frequent in our small sample of morbidly obese elderly individuals without clinical history of cognitive impairment, approaching those seen in Alzheimer disease for some patients. Such changes were not seen in younger obese patients. These changes may be attributable to comorbid conditions such as congestive heart failure, obstructive sleep apnea, or metabolic lipid abnormalities.Correspondence to:
R.E. Mrak, MD, PhD; Department of Pathology, University of Toledo, College of Medicine, 3000 Arlington Avenue, Toledo, OH 43614, USA
Email: Robert.Mrak@UToledo.edu
Neurodegeneration
Hippocampal pathology in progressive supranuclear palsy (PSP): a quantitative study of 8 cases
R.A. Armstrong, P.L. Lantos and N.J. Cairns
Abstract
R.A. Armstrong1, P.L. Lantos2 and N.J. Cairns3
1Vision Sciences, Aston University, Birmingham, 2Department of Neuropathology, Institute of Psychiatry, King’s College, London, UK, and 3Departments of Neurology, Pathology and Immunology, Washington University, School of Medicine, Saint Louis, MO, USA
Objective: To quantify the neuronal and glial cell pathology in the hippocampus and the parahippocampal gyrus (PHG) of 8 cases of progressive supranuclear palsy (PSP). Material: tau-immunolabeled sections of the temporal lobe of 8 diagnosed cases of PSP. Method: The densities of lesions were measured in the PHG, CA sectors of the hippocampus and the dentate gyrus (DG) and studied using spatial pattern analysis. Results: Neurofibrillary tangles (NFT) and abnormally enlarged neurons (EN) were most frequent in the PHG and in sector CA1 of the hippocampus, oligodendroglial inclusions (“coiled bodies”) (GI) in the PHG, subiculum, sectors CA1 and CA2, and neuritic plaques (NP) in sectors CA2 and CA4. The DG was the least affected region. Vacuolation and GI were observed in the alveus. No tufted astrocytes (TA) were observed. Pathological changes exhibited clustering, the lesions often exhibiting a regular distribution of the clusters parallel to the tissue boundary. There was a positive correlation between the degree of vacuolation in the alveus and the densities of NFT in CA1 and GI in CA1 and CA2. Conclusion: The pathology most significantly affected the output pathways of the hippocampus, lesions were topographically distributed, and hippocampal pathology may be one factor contributing to cognitive decline in PSP.Correspondence to:
Dr. R.A. Armstrong; Vision Sciences, Aston University, Birmingham, BE 7ET, UK
Email: R.A.Armstrong@aston.ac.uk
Neuropathy
Localized hypertrophic neuropathy: a case report and review of the literature
B. Koszyca, N. Jones, C. Kneebone and P. Blumbergs
Abstract
B. Koszyca1, N. Jones2, C. Kneebone3 and P. Blumbergs1
1Hanson Institute Center for Neurological Diseases, Institute of Medical and Veterinary Science, Discipline of Pathology, 2Department of Neurosurgery, University of Adelaide and 3Department of Neurology, Royal Adelaide Hospital, Adelaide, Australia
The case is presented of a 71-year-old man with a 6-year history of symptoms suggestive of carpal tunnel syndrome, which did not improve despite two surgical procedures. On further investigation, a fusiform enlargement of the median nerve was found above the elbow, which was found on biopsy to be localized hypertrophic neuropathy (LHN). This case is the first to be described affecting the median nerve. The literature regarding LHN is reviewed, with discussion of the differential diagnoses and possible etiology of this rare lesion.Correspondence to:
Dr. B. Koszyca; Hanson Institute Center for Neurological Diseases, Institute of Medical and Veterinary Science, Frome Road, Adelaide, SA 5000, Australia
Email: barbara.koszyca@imvs.sa.gov.au
Myology
Physiology, pathophysiology and diagnostic significance of autophagic changes in skeletal muscle tissue – towards the enigma of rimmed and round vacuoles
B. Schoser
Abstract
B. Schoser
Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University Munich, Germany
Autophagic vacuoles are the morphological hallmark in a wide variety of human skeletal muscle disorders. The present review summarizes recent novel insights in the physiology and pathophysiology of autophagic vacuole formation in skeletal muscle. Special emphasis will be given to the relationship between vacuolar changes and lysosomal and non-lysosomal protein degradation pathways, the diagnostic significance of rimmed and round vacuoles and novel therapeutic options related to autophagic pathways.Correspondence to:
B. Schoser, MD; Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University Munich, Ziemssenstraße 1a, 80336 Munich, Germany
Email: bschoser@med.uni-muenchen.de
Euro-CNS News
Society News of the European Confederation of Neuropathological Societies
