Clinical Neuropathology最新文献

A 64-year-old female with a 1-year history of gait difficulties and right-sided dysesthesias was found to have an intra-axial left-sided exophytic cervicomedullary enhancing mass. Microscopic, immunohistochemical, and ultrastructural findings demonstrated an amelanotic melanocytic neoplasm. Next-generation sequencing with a targeted exomic oncopanel identified a variant of functional significance in the GNA11 gene, thus confirming the diagnosis of a primary amelanotic melanocytoma. The crucial distinction from a melanoma was possible by correlating all of these studies that utilize different technologies.

The Brain Tumor Epidemiology Consortium (BTEC) is an international consortium that fosters interdisciplinary collaborations focusing on research related to the etiology, outcomes, and prevention of brain tumors. The 21^st annual BTEC meeting with the theme "Brain Tumor Biomarkers for Research, Clinics, and Registries" was held virtually from June 22 to 24, 2021. Scientists from North America and Europe, representing a broad range of brain tumor research interests, presented recent research and progress in the field. The meeting content is summarized in the following report.

Objective: Pleckstrin homology domain-containing family G member 5 (PLEKHG5) is a nuclear factor-κ-B-activator gene that predominantly expresses in the neurons and Schwann cells of the peripheral nervous system. Variations in the PLEKHG5 have shown an intermediate form of autosomal recessive Charcot-Marie-Tooth disease and lower motor neuron disease in childhood.

Materials and methods: This study investigated clinically, electrophysiologically, genetically, and pathologically a young girl with lower motor neuron disease who had weakness and wasting of all limbs starting in early childhood.

Results: Next-generation sequencing found a novel compound heterozygous missense variation c.2038-1G>A and c.1219G>T of PLEKHG5 gene. Electromyography revealed a neurogenic pattern, and nerve conduction study indicated subclinical sensory neuropathy. Sural biopsy showed hypomyelination, hypermyelination, and infolding myelin membranes coiled into the myelinated axon.

Conclusion: This study identifies, pathologically, novel compound heterozygous mutations and phenotype in PLEKHG5-related lower motor neuron disease and dysmyelination in a patient with PLEKHG5 mutation.

Objective: To analyze muscle histopathology of myasthenia gravis (MG) patients and further explore the underlying mechanism comparing with previous literature.

Materials and methods: We analyzed the clinicopathological features of 8 MG patients who had muscle biopsy examinations.

Results: Eight patients with a diagnosis of MG were retrospectively recruited from the Chinese PLA General Hospital. One patient had positive anti-MuSK antibodies, 5 patients had positive anti-AChR antibodies (1 of whom had additional positive anti-Titin antibodies), and 2 patients were seronegative. Seronegative-MG presented normal muscle histology, occasionally with lipid deposition. Small angular atrophy (mainly in type II fibers) and necrosis in H & E stain were found in AChR-MG, furthermore, patterns of polymyositis (PM) could be found in AChR-MG with anti-Titin antibodies. Mitochondrial abnormalities were found only in MuSK-MG.

Conclusion: Muscle histological abnormalities mimicking myopathy may be found in MG patients. Patients with different antibodies present with different muscle histopathology. PM pattern pathology is a special pattern of muscle histology in MG that should not be misdiagnosed. Our study has extended the muscle pathological features of MG in addition to deepening the understanding of MG.

Introduction: Anaplastic large-cell lymphoma (ALCL) rarely occurs in the central nervous system in the pediatric population.

Case presentation: We describe a diagnostically challenging case of an 11-month-old infant presenting with cranial nerve palsies and peripheral eosinophilia. Imaging demonstrated meningeal thickening with enhancement and dura-based deposits, the biopsy of which revealed features of ALK-1 negative ALCL on histologic and immunophenotypic analysis. A thorough investigation excluded the possibility of any extra-cranial origin. Hence, a diagnosis of "primary" ALCL was rendered.

Conclusion: ALCL arising in the dura in an infant has not been described earlier, to the best of our knowledge.

Aim: Since the immune system plays a role in the pathogenesis of several muscular dystrophies, we aim to characterize several muscular inflammatory features in α- (LGMD R3) and γ-sarcoglycanopathies (LGMD R5).

Materials and methods: We explored the expression of major histocompatibility complex class I molecules (MHCI), and we analyzed the composition of the immune infiltrates in muscle biopsies from 10 patients with LGMD R3 and 8 patients with LGMD R5, comparing the results to Duchenne muscular dystrophy patients (DMD).

Results: A consistent involvement of the immune response was observed in sarcoglycanopathies, although it was less evident than in DMD. LGMD R3-R5 and DMD shared an abnormal expression of MHCI, and the composition of the muscular immune cell infiltrate was comparable.

Conclusion: These findings might serve as a rationale to fine-tune a disease-specific immunomodulatory regimen, particularly relevant in view of the rapid development of gene therapy for sarcoglycanopathies.

Aims: The purpose of this study was to explore the correlation of serum ferritin (FS) levels with neurological function-related indices, such as neuron-specific enolase (NSE) and S100β protein levels, and cognitive dysfunction in patients with cerebral hemorrhage.

Materials and methods: Patients with acute non-traumatic cerebral hemorrhage (cerebrovascular disease (VD), n = 128) and healthy controls (CON, n = 128) were included. FS, NSE, and S100β levels were measured using ELISA. Cognitive functions were evaluated using the Montreal Cognitive Assessment (MoCA) and Mini-Mental State Examination (MMSE). The receiver operating characteristic (ROC) curve was used to assess the ability of SE, NSE, and serum S100β to predict the diagnosis of cognitive dysfunction in patients with cerebral hemorrhage. Multivariate logistic regression analysis was used to assess the risk factors of cognitive impairment in patients with cerebral hemorrhage.

Results: Cognitive impairment in patients with VD was closely related to the increased levels of SE, NSE, and S100β. There was a strong correlation between MoCA and MMSE scores and the levels of FS, NSE, and S100β. The independent risk factors leading to cognitive impairment in cerebral hemorrhage mainly include family history of cerebrovascular disease, body mass index, hypertension, smoking frequency, and elevated levels of low-density lipoproteins, NSE, FS, and S100β.

Conclusion: NSE, FS, and S100β can be used as important markers for the diagnosis of cognitive impairment in patients with cerebral hemorrhage.