Volume 28, No. 2/2009(March/April)
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 Clinical Neuropathology
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Tumor
Gliomatosis cerebri: clinicopathologic study of 33 cases and comparison of mass forming and diffuse types
Abstract
S. Park1, Y.-L. Suh2, D.-H. Nam3 and S.T. Kim4
1Department of Pathology, Gachon University of Medicine and Science, Gil Medical Center, Incheon, 2Department of Pathology, 3Department of Neurosurgery and 4Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
Objective: Gliomatosis cerebri (GC) is defined as a diffuse neoplastic glial cell infiltration of the brain with the preservation of anatomical architecture and the sparing of neurons and can be classified into Type 1 (diffuse) and Type 2 (mass forming) GCs macroscopically. There is little information on subtypes of GC. The aim of this study was to evaluate the clinicopathologic findings of GCs and to compare the clinicopathologic findings between Type 1 and Type 2 GCs. Material: A total of 33 cases of GC were obtained from pathology file of Samsung Medical Center. The diagnosis was based on magnetic resonance imaging findings and histological confirmation for all patients. Fifteen cases were classified into Type 1 and 18 were Type 2 based on the MR images. Methods: Clinical information included patients’ age, sex, tumor extent, treatment modality and survival. Pathologic features included the amount of rod cells and cytologic anaplasia such as multinucleated tumor giant cells, endothelial cell proliferation, or mitosis. Immunohistochemical study was performed for GFAP, O1, Gal-C, Ki-67, and p53. Clinicopathologic comparison between subtypes and statistical analysis were performed. Results: Median age at diagnosis was older (56 years) in Type 1 than in Type 2 (44 years). Male to female ratio was about 1.54:1. Mean survival time was shorter (21 months) in Type 2 than in Type 1 GCs (24 months) (p = 0.0447). Histologically, 33 cases of GC were classified into two histologic grades (low and high grade) by cytologic anaplasia. High-grade GC was more common in Type 2 than Type 1 (p = 0.027). Immunohistochemical results demonstrated that the infiltrating tumor cells were undifferentiated cells with astrocytic or oligodendroglial differentiation. Ki-67 labeling index was correlated with subtypes (p = 0.0096). Pathologic features were not correlated with survival. Conclusions: Type 1 and 2 GCs are somewhat different in clinical presentation and pathologic features. The age group, survival time, histologic grade, and Ki-67 labeling index were significantly correlated with subtypes of GCs. Type 2 GC was correlated with poor survival but histologic grade was not.Correspondence to:
Y.-L. Suh, MD,PhD; Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-dong, Gangnam-gu, Seoul, 135-710, Korea
Email: yl.suh@samsung.com
Tumor
Lhermitte-Duclos disease with atypical vascularization – case report and review of the literature
Abstract
R.H. Andres1,2, R. Guzman1,2, J. Weis3,5, C. Brekenfeld4, J. Fandino1 and R.W. Seiler1
1Department of Neurosurgery, University of Berne, Inselspital, Switzerland, 2Department of Neurosurgery, Stanford University School of Medicine, Stanford, CA, USA, 3Division of Neuropathology, Institute of Pathology, 4Department of Neuroradiology, University of Berne, Inselspital, Switzerland and 5Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, Germany
Objective: A case of Lhermitte-Duclos disease (LDD, dysplastic gangliocytoma) with atypical vascularization is reported. LDD is a rare cerebellar mass lesion which may be associated with Cowden’s syndrome and the PTEN germline mutation. Case material: A 61-year-old male presented 15 years before with a transient episode of unspecific gait disturbance. Initial magnetic resonance (MR) imaging revealed a right-sided, diffuse, nonenhancing cerebellar mass lesion. No definitive diagnosis was made at that time, and the symptoms resolved spontaneously. 15 years later, the patient presented with acute onset of vomiting associated with headache and ataxic gait. MR imaging showed a progression of the lesion with occlusive hydrocephalus. The lesion depicted a striated pattern characteristic for LDD with T1-hypointense and T2-hyperintense bands, nonenhancing with contrast. After resection of the mass lesion, the cerebellar and hydrocephalic symptoms improved rapidly. The pathological examination confirmed the diagnosis of dysplastic gangliocytoma (WHO Grade I) with enlarged granular and molecular cell layers, reactive gliosis and dysplastic blood vessels. No other clinical features associated with Cowden’s syndrome were present. Conclusions: This case illustrates that LDD with atypical vascularization is a slow-growing posterior fossa mass lesion which may remain asymptomatic for many years. Timing of surgical treatment and extent of resection in patients with LDD is controversial. The typical features on standard T1-/T2-weighted MR imaging allow a diagnosis without surgery in most cases. The authors believe that the decision to treat in these cases should be based on clinical deterioration.Correspondence to:
R.H. Andres, MD; Department of Neurosurgery, Stanford University School of Medicine, 1201 Welch Road, MSLS P304, Stanford, CA 94305-5487, USA
Email: randres@stanford.edu
Tumor
Spindle cell oncocytoma of the adenohypophysis: report of a case with marked cellular atypia and recurrence despite adjuvant treatment
Abstract
O. Casar Borota1,2, B.W. Scheithauer3, S. Lyngvi Fougner4,5, J.K. Hald6, J. Ramm-Pettersen7 and J. Bollerslev4
1Pathology Clinic, Rikshospitalet University Hospital, Oslo, Norway, 2Department of Laboratory Medicine/Pathology, University Hospital, Umeå, Sweden, 3Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA, 4Medical Clinic, Department of Endocrinology, Rikshospitalet University Hospital, 5Research Institute for Internal Medicine, University of Oslo, 6Department of Radiology, Rikshospitalet University Hospital and 7Department of Neurosurgery, Rikshospitalet University Hospital, Oslo, Norway
Spindle cell oncocytoma (SCO) of the adenohypophysis is a recently defined pituitary tumor mimicking a non-functioning macroadenoma and composed of mitochondrion rich tumor cells, positive for S-100, vimentin, epithelial membrane antigen and galectin-3 but lacking cytokeratins, pituitary hormones, and neuroendocrine markers. Derivation from pituitary folliculostellate cells (FSCs) has been suggested based upon immunohistochemical and ultrastructural characteristics shared by SCO and FSCs. 10 cases of SCO have been reported to date; of these, 8 underwent a benign clinical course and 2 recurred. We report a case of SCO with typical histologic and immunohistochemical features in addition to marked cellular pleomorphism and nuclear atypia. It showed slow regrowth over a 30-month period of follow-up despite combined surgical and radiotherapy. Despite the benign course of most reported cases, additional experience with longer follow-up are needed to assess clinical, histopathologic, and proliferative indices and their relevance to optimal therapy for this rare pituitary tumor.Correspondence to:
O. Casar Borota, MD; Department of Laboratory, Medicine/Pathology, University Hospital, 901 85 Umeå, Sweden
Email: olivera.casar.borota@vll.se
Tumor
Radiation-induced osteosarcoma with a rhabdomyosarcoma component arising from the dura mater: a case report
Abstract
S. Utsuki, H. Oka, K. Sato, S. Shimizu, S. Suzuki and K. Fujii
Department of Neurosurgery, Kitasato University School of Medicine, Sagamihara, Kanagawa, Japan
Objective: Radiation-induced tumors are a rare complication of radiation therapy. Here, we describe the first case of a radiation-induced osteosarcoma with a rhabdomyosarcoma component arising from the dura mater after radiation therapy for an astrocytoma. Patient: An 18-year-old man with generalized seizures presented with a neoplastic lesion in the dura mater of a previously irradiated (56 Gy) region 5 years after the initial radiation therapy. A tumor resection was performed, and histological examination revealed an osteosarcoma with a rhabdomyosarcoma component. The tumor recurred despite eight tumorectomies and the addition of chemotherapy and radiotherapy. The patient died from tumor progression 5 years after the first surgical removal of the radiation-induced tumor. Conclusion: This radiation-induced tumor may have originated from primitive, multipotent mesenchymal cells, as it included both osteosarcoma and rhabdomyosarcoma components.Correspondence to:
S. Utsuki, MD; Department of Neurosurgery, Kitasato University School of Medicine, 1 - 15- 1 Kitasato, Sagamihara, Kanagawa 228-8555, Japan
Email: utsuki@med.kitasato-u.ac.jp
Tumor
Recurrent ependymoma with cartilaginous metaplasia in an adult: report of a rare case and review of literature
Abstract
A. Jain1, A. Rishi1, V. Suri1, A. Garg2, M.C. Sharma1, C. Sarkar1 and B.S. Sharma3
1Departments of Pathology, 2Neuroradiology and 3Neurosurgery, All India Institute of Medical Sciences (AIIMS), New Delhi, India
Cartilaginous metaplasia in ependymomas is an uncommon phenomenon and is hypothesized to be due to metaplasia of the mesenchymal supportive elements or arising from the neoplastic glial cells. Most of the previous cases reported have occurred in children less than 10 years of age. The present report discusses an unusual case of ependymoma with cartilaginous metaplasia in a 21-year-old male. A brief review on the histogenesis of cartilaginous metaplasia is also provided.Correspondence to:
Dr. V. Suri; Assistant Professor, Department of
Pathology, AIIMS, New Delhi-110029, India
Email: surivaishali@yahoo.co.in
Tumor
Increased expression of glial cell line-derived neurotrophic factor and neurturin in a case of colon adenocarcinoma associated with diffuse ganglioneuromatosis
Abstract
S. Qiao1, T. Iwashita2, M. Ichihara1, Y. Murakumo3, A. Yamaguchi4, M. Isogai4, K. Sakata5 and M. Takahashi3
1Department of Biomedical Sciences, College of Life and Health Sciences, Chubu University, 2Department of Pathology, Aichi Medical University School of Medicine, 3Department of Pathology, Nagoya University School of Medicine, 4Department of Surgery, Ogaki City Hospital, Gifu and 5Department of Pathology, National Hospital for Geriatric Medicine, Aichi, Japan
Intestinal ganglioneuromatosis (GN) is an uncommon disease of the enteric nervous system (ENS) and its pathogenesis remains unclear. Here we describe a unique case of diffuse GN of the intestinal wall associated with colon adenocarcinoma occurring in a 38-year-old female. Because it is well-known that glial cell line-derived neurotrophic factor (GDNF) and its receptor components, GDNF family receptor-alpha1 (GFR-alpha1) and RET receptor tyrosine kinase, play a crucial role in the development of ENS, their expression was analyzed by immunohistochemistry. Interestingly, GDNF as well as a related neurotrophic factor, neurturin (NTN), were expressed at high levels in adenocarcinoma cells whereas expression of GFRalpha1 and RET was undetectable in them. In contrast, GFR-alpha1 showed positive staining in both proliferating ganglion cells and glial cells, and RET immunoreactivity was found mainly in ganglion cell bodies. These findings suggested that GDNF and NTN expression in adenocarcinoma cells may play an important role in the pathogenesis of GN.Correspondence to:
S. Qiao, MD, PhD; Division of Pathology and Histology, Department of Biomedical Sciences, College of Life and Health Sciences, Chubu University, 1200 Matsumoto-cho, Kasugai City, Aichi 487-8501, Japan
Email: qiaosl@isc.chubu.ac.jp
Infectious disease
Neuroanatomical mapping of rabies nucleocapsid viral antigen distribution and apoptosis in pathogenesis in street dog rabies – an immunohistochemical study
Abstract
M.S. Suja1, A. Mahadevan2, S.N. Madhusudhana1, S.K. Vijayasarathi3 and S.K. Shankar2
Departments of 1Neurovirology, 2Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore and 3Department of Veterinary Pathology, Veterinary College, Hebbal, Bangalore, India
Aim: To date, there is no study from Asian countries describing the pathology and topographic distribution of virulent, “street” rabies viral infection in the canine brain. In the present study, neuroanatomical distribution of rabies viral antigen in the brains of rabid street dogs, by immunohistochemical techniques is documented and the role of apoptosis in pathogenesis of rabies in natural hosts especially canines infected with street virus is studied. Materials and methods: 10 brains of adult street dogs from urban areas of Bangalore, South Central India, infected with rabies were collected. The diagnosis was confirmed by immunofluorescent study. The pathomorphological features and the neuroanatomic distribution of the viral antigen by immunohistochemistry were studied. The ability of the virus to activate apoptosis in nerve cells if any, was studied by determining the DNA fragmentation and TUNEL technique in infected canine brains. Results: The viral antigen was mostly localized to the neuronal perikaryon extending along the dendrites, while occasional astrocytes were also labeled. In the brain, the limbic areas, thalamus and the reticular formation of the brain stem, the trigeminal and the vagal nuclei were involved, corresponding to areas of cholinergic innervation. It is proposed that the preferential involvement of these cholinergic zones could explain some of the clinical features of rabies in canines. The extensive involvement of thalamus and immunolocalization of the rabies viral antigen in the axons are the unusual features noted in a dog’s brain in contrast to murine experimental studies with “fixed virus”. Characteristic DNA fragmentation forming 180 – 200 bp, leading to laddering was not seen, indicating apoptosis is not involved in the evolution of lesions in rabies in adult dogs infected by street virus.Correspondence to:
Dr. S.K. Shankar MD, FAMS, FNASc, FIC Path; Professor and Head, Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore 560029, India
Email: shankar@nimhans.kar.nic.in
Neuropathy
Severe acute multineuropathy in Churg-Strauss syndrome in a patient with a history of melanoma
Abstract
M.E. Fruguglietti1, L. Napoli1, M. Sciacco1, M. Ripolone1, M. Serafini1, N. Grimoldi2, N. Bresolin1, M. Moggio1 and A. Prelle1
1Centro Dino Ferrari d+ell’ Università di Milano and 2Unità di Neurochirurgia dell’Università di Milano, Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena IRCCS, Milan, Italy
We describe the clinicopathologic features of a 69-year-old man affected with acute onset Churg-Strauss syndrome with major peripheral nerve involvement. At admission the patient presented a one-week history of distal upper-limb asymmetrical paresthesias. Asthma had been present since the age of 55 and treated with leukotriene receptor antagonists (LTAs, Montelukast) for a few years. Multiple pulmonary infiltrates had been diagnosed during follow-up for melanoma. During hospitalization he showed rapidly progressive weakness worsening within a few hours; cerebrospinal fluid analysis, cervical MRI, head CT scan, nerve conduction studies and peripheral nerve and skeletal muscle biopsies were performed. Blood analysis showed leukocytosis and marked eosinophilia; p-ANCA were positive. Sural nerve biopsy showed a marked loss of myelinated fibers, thrombosed vessels surrounded by mononuclear and eosinophilic cells, necrotizing and hyaline degeneration. Eosinophilic infiltrates were shown in May-Grunwald-Giemsa stained sections. The eosinophils mostly occupied the outer zone of the adventitia at the margin of the active lesion. Perivascular cellular infiltrates within the epineurium were immunoreactive for T-lymphocytes and macrophages. Strong HLA-DR immunostaining was present in the perineurium and membrane attack complex deposition was present in a few endoneurial capillaries. Muscle biopsy showed neurogenic changes and one vessel surrounded by mononuclear cells. After a few days of corticosteroid therapy leukocytosis and eosinophilia normalized and the patient’s clinical features stabilized.Correspondence to:
A. Prelle, MD; UOS Malattie Neuromuscolari, UOC di Neurologia, Fondazione Policlinico IRCSS, Via F. Sforza 35, 20122, Milan, Italy
Email: alessandro.prelle@unimi.it
Neuropathy
Pathological findings in subsynovial connective tissue in idiopathic carpal tunnel syndrome
Abstract
G. Donato1, O. Galasso4, P. Valentino1, F. Conforti2, V. Zuccalà1, E. Russo2, L. Maltese1, I. Perrotta3, S. Tripepi3 and A. Amorosi1
1Departement of Pathology, 2Department of Experimental and Clinical Medicine, School of Medicine, University Magna Graecia, Catanzaro, 3Department of Ecology, University of Calabria, Rende and 4Department of Medical Sciences, School of Medicine, University Magna Graecia, Catanzaro, Italy
Recent studies suggest that in patients with carpal tunnel syndrome, pathological changes occur in the subsynovial connective tissue. Such changes are non-inflammatory synovial fibrosis and vascular proliferation. Thickening of the tendon sheet may cause an increase of canal pressure and damages to the median nerve in the wrist; however, the causes of such events still remain to be clarified. We examined synovial specimens from 26 patients operated on for idiopathic carpal tunnel syndrome. Analysis included histological, ultrastructural and immunohistochemical examination in order to establish a pathological underlying pattern. An explanation for the pathogenesis of the found changes suggested. Our data confirm the presence of a non-inflammatory fibrosis with irregular bundles of collagen. De novo blood vessel formation was also noted. Interestingly the neo-angiogenesis consists of anomalous vessels and may be triggered from various cell types secreting vascular endothelial growth factor (VEGF), including macrophage-like elements similar to endothelial progenitor cells. Therefore, we believe that in the future a non-surgical management of carpal tunnel syndrome might be conjecturable via anti-VEGF drugs.Correspondence to:
G. Donato, MD, PhD; Unità Operativa di Anatomia Patologica, Policlinico Universitario “Mater Domini”, Via T. Campanella, 115, 88100 Catanzaro, Italy
Email: gdonato@unicz.it
Neuropathy
Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases
Abstract
S. Teijeira1, B. San Millán1, J.M. Fernández2, E. Rivas1, I. Viéitez1, S. Miranda1, F. González3 and C. Navarro1
1Department of Pathology and Neuropathology, Complexo Hospitalario Universitario de Vigo (Meixoeiro), 2Department of Clinical Neurophysiology, Complexo Hospitalario Universitario de Vigo (Xeral-Cies) and 3Department of Laboratory Medicine, Complexo Hospitalario Universitario de Vigo (Meixoeiro), Vigo, Spain
Myoadenylate deaminase deficiency (MADD) is the most common metabolic muscle disorder. Here we report the largest study to date of MADD in Spanish patients, including clinical, histological, and molecular data. Most of the patients presented with moderate clinical symptoms of exercise intolerance, including myalgia, fatigability and cramps. In 70% of the patients, serum creatine kinase (CK) was elevated. Muscle biopsy showed mild, nonspecific alterations with absent histochemical reaction for MAD. Eight cases of MADD were coincidental with other associated diseases, and had more severe tissue alterations upon muscle biopsy. The mutation C34T in the MAD gene was present in a homozygous state in 26 of the 27 patients. One patient was a compound heterozygote for the C34T/G468T mutations. We conclude that MADD should be suspected in patients with exercise intolerance and with idiopathic hyperCKemia. Since symptoms may be subtle, we recommend routine histochemical analysis of MAD in all muscle biopsies, followed by molecular analysis in MAD-negative cases.Correspondence to:
C. Navarro, MD, PhD; Department of Pathology and Neuropathology, Complexo Hospitalario Universitario de Vigo (Meixoeiro), Meixoeiro, s/n, 36215 Vigo, Spain
Email: carmen.navarro.fernandez.balbuena@sergas.es
Myology
A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy
Abstract
B.C. Mobley1, G.M. Enns2, L.-J. Wong3 and H. Vogel1
1Department of Pathology, Stanford University School of Medicine, Stanford, CA, 2Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA and 3Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Cytochrome c oxidase (COX) deficiency is a frequent cause of mitochondrial disease in infants. Mutations in the COX assembly gene SCO2 cause fatal infantile cardioencephalomyopathy. All patients reported to date with SCO2 deficiency share a common p.E140K mutation in at least 1 allele. In order to further the understanding of the genotype-phenotype spectrum associated with fatal infantile cardioencephalomyopathy, we describe a novel homozygous SCO2 mutation p.G193S in a patient with fatal infantile cardioencephalomyopathy born to consanguineous parents of Indian ancestry.Correspondence to:
B.C. Mobley, MD; Stanford University Medical Center of Pathology, 300 Pasteur Drive, Edwards Room R-241, Stanford, CA 94305, USA
Email: bretmobley@gmail.com
Erratum
Euro-CNS News
Society News of the European Confederation of Neuropathological Societies
