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Abstract

Clinical Neuropathology, Vol. 33 – No. 3/2014 (172-178)

Clinical Neuropathology practice guide 3-2014: Combined nerve and muscle biopsy in the diagnostic workup of neuropathy – the Bordeaux experience

Anne Vital¹,²,³ and Claude Vital¹,²

¹University of Bordeaux, Institut des Maladies Neurodégénératives, ²CNRS, Institut des Maladies Neurodégénératives, and ³Pathology Department, Bordeaux University Hospital, Bordeaux, France
Simultaneous combined superficial peroneal nerve and peroneous brevis muscle biopsy, via the same cutaneous incision, allows examination of several tissue specimens and significantly improves the diagnosis of systemic diseases with peripheral nerve involvement. Vasculitides are certainly the most frequently diagnosed on neuro-muscular biopsies, but this procedure is also well advised to asses a diagnosis of sarcoidosis or amyloidosis. More occasionally, combined nerve and muscle biopsy may reveal an unpredicted diagnosis of cholesterol embolism, intra-vascular lymphoma, or enables complementary diagnosis investigations on mitochondrial cytopathy or storage disease.Correspondence to:
Anne Vital, MD, PhD
Neuropathologie BP42
Université Bordeaux Segalen
146, rue Léo-Saignat, 33076 Bordeaux cedex, France
Email: [email protected]

Abstract

Clinical Neuropathology, Vol. 34 – No. 4/2015 (193-198)

Dementia pugilistica: a severe tribute to a career

Sébastien Lepreux¹, Sophie Auriacombe², Claude Vital³, Bruno Dubois⁴, and Anne Vital¹,³

¹Pathology Department, Bordeaux University Hospital, ²University of Bordeaux, Institut des Maladies Neurodégénératives, Centre Mémoire Ressource et Recherche Aquitaine, ³University of Bordeaux, Institut des Maladies Neurodégénératives, UMR ⁵²⁹³, Bordeaux, and ⁴University of Paris ⁶, Centre des Maladies Cognitives et Comportementales, IM²A, ICM, Hôpital de la Salpêtrière-Paris, France
A 59-year-old man, ex-professional boxer, met clinical criteria for probable Alzheimer’s disease. The patient agreed to be included in a clinico-pathological study with donation to the brain bank, and he died at 71. The brain was grossly atrophic, with a prominent atrophy of the entorhinal cortex and hippocampus, and with pallor of the substantia nigra. Immunohistochemistry with anti-β A4 revealed abundant and diffuse deposits in the neo-cortex, whereas amyloid angiopathy was absent. Coupled anti-τ AT8 immunohistochemistry and Congo red staining showed no neuritic plaques. τ-AT8-positive glial tangles and neurofibrillary tangles involved preferentially the superficial cortical layers, and were irregularly concentrated in the depth of cortical sulci and near vessels. Neurofibrillary degeneration was marked in amygdala, hippocampus, substantia nigra, and locus ceruleus. Enlarged and/or distorted axons were numerous in hippocampus and mid-brain. TDP 43-positive neuronal inclusions were numerous in amygdala and hippocampus. There was no synucleinopathy. These observations are in accordance with the previously reported data on chronic traumatic encephalopathy. The discussion is focused on professional boxing as it becomes evident that repetitive trauma on the brain provokes the deposition of abnormal proteins involved in neurodegeneration.Correspondence to:
Anne Vital, MD, PhD
Neuropathologie BP42
Université Bordeaux Segalen
146, rue Léo-Saignat
33076 Bordeaux cedex, France
Email: [email protected]

Abstract

Clinical Neuropathology, Vol. 36 – No. 1/2017 (5-14)

Patterns of diagnostic marker assessment in adult diffuse glioma: a survey of the European Confederation of Neuropathological Societies (Euro-CNS)

Adelheid Woehrer¹, Bjarne W. Kristensen², Anne Vital³, and Johannes A. Hainfellner¹

¹Institute of Neurology and Comprehensive Cancer Center CNS Unit, Medical University of Vienna, Austria, ²Department of Pathology, Odense University Hospital and Institute of Clinical Research, University of Southern Denmark, Denmark, and ³Institute of Neuroscience, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France
The 2016 update of the WHO classification has introduced an integrated diagnostic approach that incorporates both tumor morphology and molecular information. This conceptual change has far-reaching implications, especially for neuropathologists who are in the forefront of translating molecular markers to routine diagnostic use. Adult diffuse glioma is a prototypic example for a group of tumors that underwent substantial regrouping, and it represents a major workload for surgical neuropathologists. Hence, we conducted a survey among members of the European Confederation of Neuropathological Societies (Euro-CNS) in order to assess 1) the extent to which molecular markers have already been incorporated in glioma diagnoses, 2) which molecular techniques are in daily use, and 3) to set a baseline for future surveys in this field. Based on 130 responses from participants across 40 nations neuropathologists uniformly rate molecular marker testing as highly relevant and already incorporate molecular information in their diagnostic assessments. At the same time however, the survey documents substantial differences in access to crucial biomarkers and molecular techniques across geographic regions and within individual countries. Concerns are raised concerning the validity of test assays with MGMT, 1p19q, and ATRX; being perceived as most problematic. Neuropathologists advocate the need for international harmonization of standards and consensus guidelines, and the majority is willing to actively engage in interlaboratory trials aiming at quality control (Figure 1). Correspondence to:
Prof. Dr. Johannes A. Hainfellner
Institute of Neurology, Medical University of Vienna
Waehringer Guertel 18-20
1090 Vienna, Austria
Email: [email protected]

Abstract

Clinical Neuropathology, Vol. 36 – No. 5/2017 (222-226)

Primary diffuse leptomeningeal gliomatosis: do we miss the diagnosis?

Sébastien Lepreux¹, Sharmilla Sagnier², Jean-Thomas Perez¹, François Léger¹, Igor Sibon², and Anne Vital¹

¹Pathology Department and ²Neurology Department, Bordeaux University Hospital, France
Primary diffuse leptomeningeal gliomatosis (PDLG) is characterized by diffuse infiltration of the leptomeningeal space by neoplastic glial cells without evidence of intra-parenchymatous primary tumor. We report a case of PDLG in a 68-year-old man, who died 1 month after onset of symptoms. The diagnosis was made on autopsy data. We discuss the particularities of this entity, which is not registered in the WHO classification of tumors of the central nervous system (2016). In case of an unexplained inflammatory meningeal process and in the presence of atypical cells in the cerebrospinal fluid, PDLG needs to be considered. This diagnosis of PDLG has to be confirmed by meningeal imaging-guided biopsy, which must be repeated if necessary. Correspondence to:
Sébastien Lepreux, MD, PhD
Pathology Department, CHU Bordeaux Pellegrin
Place Amélie Raba-Leon
33076 Bordeaux Cedex, France
Email: [email protected]

Abstract

Clinical Neuropathology, Vol. 37 – No. 1/2018 (6-15)

Idiopathic inflammatory myopathies overlapping with systemic diseases

Sébastien Lepreux¹, Johannes A. Hainfellner², and Anne Vital¹#³

¹Pathology Department, Bordeaux University Hospital, Bordeaux, France, ²Institute of Neurology and Comprehensive Cancer Center CNS Unit, Medical University of Vienna, Austria, and ³Univ. Bordeaux, Institut des Maladies Neurodégénératives, UMR ⁵²⁹³, Bordeaux, France
A muscle biopsy is currently requested to assess the diagnosis of an idiopathic inflammatory myopathy overlapping with a systemic disease. During the past few years, the classification of inflammatory myopathy subtypes has been revisited progressively on the basis of correlations between clinical phenotypes, autoantibodies and histological data. Several syndromic entities are now more clearly defined, and the aim of the present review is to clarify the contribution of muscle biopsy in a setting of idiopathic inflammatory myopathies overlapping with systemic diseases. Correspondence to:
Prof. Dr. Anne Vital
Pathology Department
Bordeaux University Hospital
Place Amélie Raba-Léon
33076 Bordeaux Cedex, France
Email: [email protected]

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