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Clinical Neuropathology, Vol. 29 – No. 5/2010

J.A. Hainfellner

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Clinical Neuropathology, Vol. 29 – No. 5/2010 (271-288)

Current concepts of neuropathological diagnostics in practice: neurodegenerative diseases

G.G. Kovacs and H. Budka

Institute of Neurology, Medical University of Vienna, Vienna, Austria
Definitive diagnosis of neurodegenerative diseases (NDDs) relies on the neuropathological evaluation. NDDs are defined as disorders with progressive loss of neurons showing distinct anatomical distribution, and accordingly different clinical phenotypes. Recent research has identified a spectrum of immunohistochemically detectable proteins deposited in the central nervous system which serve as a basis for protein-based disease classification. Accordingly, diagnostic criteria and disease staging have been updated. Furthermore, it has become evident that there is considerable overlap between deposited proteins and pathologies. This review summarizes recent achievements in neuropathological diagnosis and classification of NDDs and recommends approaches to be used during the diagnostic procedure in practice, thus to serve as guideline for a common level of diagnostic quality.Correspondence to:
G.G. Kovacs, MD, PhD
Institute of Neurology, AKH 4J
Währinger Gürtel 18 – 20
1097 Vienna, Austria
Email: gabor.kovacs@meduniwien.ac.at

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Clinical Neuropathology, Vol. 29 – No. 5/2010 (289-296)

Anaplastic astroblastoma-sarcoma in neurofibromatosis Type 1

B.W. Scheithauer¹, A.T. Aker¹, ², R.P. Ketterling¹, A.W. Carlson¹, R.A. Knudson¹ and M. Tyler³

¹Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA, ²Haydarpasa Numune Education and Research Hospital, Department of Pathology, Istanbul, Turkey, and ³Department of Neurosurgery, Columbia Trident Medical Center, Charleston, SC, USA
Astroblastoma is a distinctive brain tumor when its histologic features occur in pure form. More often, the tumor pattern is seen to emerge in infiltrative astrocytic tumors. The former are rare. Astroblastoma as a de novo component of gliosarcoma has not previously been described. Furthermore, astroblastoma has only once been reported to occur in the setting of neurofibromatosis Type I (NF1), a condition more often associated with pilocytic and diffuse or infiltrative astrocytic tumors. Herein, we describe a unique case of anaplastic de novo astroblastoma-sarcoma, in essence a variant of gliosarcoma, occurring in a 50-year-old female with documented NF1. Genetic study (fluorescence in situ hybridization) demonstrated no chromosomal losses or gains. Testing for abnormalities of chromosomes 7, 9, 10, 12, 17, 19 and 20, including the EGFR, p16, PTEN, MDM2 and NF1 gene regions, we found the tumor to exhibit a deletion of PTEN, monosomy 17 and gains of chromosomes 19 and 20q. The latter alterations, having been reported in astroblastoma, were noted in both tumor components, thus confirming the common origin of the glial and sarcomatous elements.Correspondence to:
B.W. Scheithauer, MD
Mayo Clinic, Department of Laboratory Medicine and Pathology
200 First Street, SW
Rochester, MN 55905, USA
Email: scheithauer.bernd@mayo.edu

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Clinical Neuropathology, Vol. 29 – No. 5/2010 (297-300)

Retrosellar intracranial extracerebral glioneuronal heterotopion: case report

J. Karamchandani¹, N. Fischbein², G. Harsh³, L. Katznelson³, ⁴ and H. Vogel¹

¹Department of Pathology, ²Department of Radiology, ³Department of Neurosurgery and ⁴Department of Medicine, Stanford University Medical Center, Palo Alto, CA, USA
We report the case of an 18-year-old woman with an intradural retroclival retrosellar glioneuronal heterotopion. At the time of surgery, a well circumscribed pale-tan mass was identified posterior to and distinct from the posterior pituitary. Pathologic examination showed disorganized, non-neoplastic glial tissue characteristic of glioneuronal heterotopia. To our knowledge, this is the first report of such a lesion in this location.Correspondence to:
J. Karamchandani, MD
Department of Pathology
Stanford University Medical Center
300 Pasteur Drive
Edwards Building, Room R-241
Palo Alto, CA 94305, USA
Email: jkaramch@stanford.edu

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Clinical Neuropathology, Vol. 29 – No. 5/2010 (301-306)

Concurrent solitary fibrous tumor and low-grade fibrillary astrocytoma of the cerebellum

J.I. López¹,², B.W. Scheithauer¹, C. Giannini¹ and S.H. Torp³

¹Department of Laboratory Medicine and Pathology, Mayo Clinic, Mayo Clinic College of Medicine, Rochester, MN, USA, ²Department of Anatomic Pathology, Hospital de Cruces-Osakidetza, Basque Country University (EHU/UPV), Barakaldo, Bizkaia, Spain, and ³Department of Pathology, St. Olav’s University Hospital, Trondheim, Norway
Objective: We report the clinicopathologic features of a solitary fibrous tumor (SFT) having undergone malignant transformation and being intimately associated with a WHO Grade II astrocytoma. Clinical presentation: A 7-month old patient presented with delayed motor development and hydrocephalus. Intervention: Histologic and immunocytologic methods were applied in the study of the tumors. Resection was initially employed and the SIOP protocol employing vincristine and carboplatin was applied upon tumor recurrence. Conclusion: The biologic basis for the association of SFT and astrocytoma is unknown. The complex lesion differs substantially from WHO Grade IV gliosarcoma and from gliofibroma, lesions in which the disparate elements are linked by metaplasia. Indeed, it may represent a collision tumor. Lastly, induction of the glioma by the solitary fibrous tumor, a mechanism invoked to explain the poorly understood “sarcoglioma,” deserves consideration.Correspondence to:
B.W. Scheithauer, MD
Department of Laboratory Medicine and Pathology
Mayo Clinic
200 First Street, SW
Rochester, MN 55905, USA
Email: scheithauer.bernd@mayo.edu

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Clinical Neuropathology, Vol. 29 – No. 5/2010 (307-316)

Necrotic rhabdoid meningiomas with aggressive clinical behavior

E. Matyja¹,³, W. Grajkowska²,³, P. Nauman³, W. Bonicki³, P. Bojarski⁴ and A. Marchel⁴

¹Department of Experimental and Clinical Neuropathology, M. Mossakowski Medical Research Centre, Polish Academy of Sciences, ²Department of Pathology, Children’s Memorial Health Institute, ³Department of Neurosurgery, M. Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, ⁴Department of Neurosurgery, Medical University, Warsaw, Poland
Rhabdoid meningioma (RM) is a rare, aggressive variant of meningioma classified as a WHO Grade III malignancy. RM exhibits a striking histological resemblance to other rhabdoid tumors and strong tendency towards local recurrences, CSF dissemination, and/or remote metastasis. The majority of reported cases are of secondary rhabdoid transformation in recurrent meningiomas. We present two unusual cases of rhabdoid meningiomas diagnosed as a primary intracranial lesion in adults that were associated with extensive necrosis and an aggressive clinical course. On histological examination, the majority of the tumor mass was composed of necrotic tissue with focal clusters of neoplastic cells, often localized around blood vessels. Most tumor cells exhibited typical rhabdoid morphology with large, vesicular, often eccentrically located nuclei with distinct nucleoli and abundant cytoplasm containing eosinophilic hyaline inclusions. Classical meningothelial features with focal whorl formation were scarce and seen only in one case; in the second case the tumor was entirely rhabdoid. The differential diagnosis with atypical teratoid/rhabdoid tumors (AT/RTs) and other neoplasms, particularly metastatic carcinoma, was considered. Immunohistochemical and electron microscopic study were critical for the accurate diagnosis of the rhabdoid subtype of meningiomas. Rhabdoid cells stained diffusely positive for vimentin and S-100 protein and showed focal but strong expression of epithelial membrane antigen and cytokeratins. The rhabdoid areas of the tumors exhibited high mitotic activity with a MIB-1 labeling index of 80 – 90%. The diagnosis of rhabdoid meningioma was supported by evidence of SNF5 (INI1) protein expression. Ultrastructural examination demonstrated the presence of interdigitating cell processes joined by numerous desmosomes and paranuclear whorls of intermediate filaments typical of the rhabdoid phenotype. Our two cases of rhabdoid meningiomas were associated with lethal outcome within a few months of initial diagnosis. Extensive necrosis in rhabdoid meningioma might be considered an additional predictor of aggressive clinical behavior.Correspondence to:
E. Matyja, MD, PhD
Department of Experimental and Clinical Neuropathology
Medical Research Centre, Polish Academy of Sciences
5 Pawinskiego Str., 02-106 Warsaw, Poland
Email: matyja@cmdik.pan.pl

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Clinical Neuropathology, Vol. 29 – No. 5/2010 (317-322)

NGAL immunohistochemical expression in brain primary and metastatic tumors

V. Barresi, G. Tuccari and G. Barresi

Department of Human Pathology, University of Messina, Messina, Italy
A significant association has been recently shown between the expression of neutrophil gelatinase-associated lipocalin (NGAL) in tumors and its urinary levels. Thus NGAL urinary detection has been proposed as a method for the early diagnosis of brain tumors. In view of this, the objective of this study was to investigate whether NGAL expression differs according to brain tumor type or in primary vs. metastatic brain neolasias. 42 surgically resected formalin fixed and paraffin embedded neoplasias, including 15 cases of brain metastasis and 27 cases of primary central nervous system (CNS) tumors (11 meningiomas; 1 pilocytic astrocytoma, 2 diffuse astrocytomas, 2 oligoastrocytomas, 2 oligodendrogliomas, 1 anaplastic oligoastrocytoma, 7 glioblastomas, 1 ependymoma) were submitted to the immunohistochemical procedure. Sections were incubated overnight with the primary antibody against NGAL. NGAL staining was found in all the analyzed glioblastomas and in the anaplastic oligoastrocytoma. No NGAL immuno-expression was evidenced in all the other cases. A statistically significant correlation was demonstrated between NGAL presence and high proliferation index in the primary tumors. In conclusion, our findings suggest that NGAL expression is restricted to high grade gliomas among primary brain tumors, and that brain metastases do not express this protein. Considering the correlation between NGAL expression in tumors and its urinary levels, if our observations will be further validated, NGAL urinary detection might be used as an additional tool in the pre-surgical definition of brain lesions involving difficult differential diagnosis.Correspondence to:
Dr. V. Barresi
Dipartimento di Patologia Umana
Policlinico Universitario G. Martino, Pad D
Via Consolare Valeria
98125 Messina, Italy
Email: vbarresi@unime.it

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Clinical Neuropathology, Vol. 29 – No. 5/2010 (323-329)

Glioblastoma with granular cell astrocytoma features: a case report and literature review

J. Schittenhelm¹ and T. Psaras²

¹Institute of Brain Research and ²Department of Neurosurgery, University Hospital, Eberhard Karls University of Tuebingen, Tuebingen, Germany
We present the case of a 69-year old patient with a contrast enhancing, partially cystic lesion of the right temporal lobe, involving the ventricle and extending into the occipital lobe. The resected tumor showed histological features of a glioblastoma with granular cell astrocytoma features, lacking amplification of the EGFR gene region and IDH1R132H mutation. Literature review of 59 cases showed a 12-month overall survival of 11.7% for high-grade and 40% for low-grade granular cell astrocytomas. In 35% more than one cerebral lobe was affected. These extended mass effects may explain the worse prognosis despite the relatively bland histology of the granular cell component.Correspondence to:
Dr. J. Schittenhelm
Institute of Brain Research
University Tuebingen
Calwerstr. 3
72076 Tuebingen, Germany
Email: jens.schittenhelm@med.uni-tuebingen.de

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Clinical Neuropathology, Vol. 29 – No. 5/2010 (330-333)

Glioblastoma with melanotic differentiation

S. Jaiswal¹, V. Agrawal¹, M. Vij¹, R. N. Sahu², A.K. Jaiswal² and S. Behari²

Department of ¹Pathology and ²Neurosurgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
A 54-year-old male presented with the history of headache and vomiting. MRI of the head showed right posterior temporal mass which was surgically excised. Histopathological examination revealed features of glioblastoma with pigmented cells. The pigment was demonstrated to be melanin which was confirmed by special stains and immunohistochemistry. This is the first description of glioblastoma with melanotic differentiation reported in the literature. The relevant literature is briefly reviewed.Correspondence to:
Dr. S. Jaiswal, MD
Assistant Professor
Department of Pathology
Sanjay Gandhi Postgraduate Institute of Medical Sciences
Rae Bareli Road
Lucknow 226014 UP, India
Email: sushilapath@yahoo.com

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Clinical Neuropathology, Vol. 29 – No. 5/2010 (334-340)

Intramedullary spinal cord metastases of malignant melanoma: an autopsy case report and review of the literature

T. Ishii¹, T. Terao¹, K. Komine² and T. Abe³

¹Department of Neurosurgery, ²Department of Pathology, Atsugi City Hospital, Atsugi and ³Department of Neurosurgery, Jikei University School of Medicine, Tokyo, Japan
Introduction: Compared with brain metastasis of malignant melanoma (MM), spinal metastasis, and in particular intramedullary spinal cord metastasis (ISCM), is extremely rare. Case: A 78-year-old female patient suffered from disturbance of gait and mild dementia. Radiological investigations revealed multiple hemorrhagic lesions in the brain. She underwent surgical resection of a right parietal lesion, the diagnosis of which was MM. Re-examination of her past history revealed that the patient had undergone surgical resection of a nevus on her left cheek 3 years previously, the diagnosis of which had been MM. After she had died of the tumor 3 months later, complete autopsy was performed. Multiple ISCMs with hemorrhage were detected in the cervical, thoracic, and lumbar cord. Discussion: We found 9 cases of ISCM of MM in the literature, 5 of which were located in the cervical cord, 3 in the thoracic cord, and 1 in the lumbar cord. One difference between the findings noted in the literature and those in the present case involved the cross-sectional location of metastases in the spinal cord. In the present case, it appeared that postoperative management for the left buccal melanoma, which did not include adjuvant therapy, affected the postoperative clinical course. The prognosis was also affected by overlooking of ISCM. The brain metastases in the present case induced deterioration of her neurological symptoms rapid enough that the possibility of ISCM was not considered. On evaluation of tumor spread from MM, it is important to take into account not only intracranial metastases but ISCM as well.Correspondence to:
T. Ishii, MD
Department of Neurosurgery
Atsugi City Hospital
1-16-36 Mizuhiki Atsugi-shi Kanagawa, Japan
Email: takikuyoyami@yahoo.co.jp

Abstract

The Spanish Club of Neuropathology Meeting, Barcelona, Spain, November 20 – 21, 2009

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Society News of the European Confederation of Neuropathological Societies

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Volume 29, No. 5/2010(September/October)