Nanopore Sequencing as a Cutting-Edge Technology for Medulloblastoma Classification.

Background: Medulloblastoma (MB) is one of the most prevalent embryonal malignant brain tumors. Current classification organizes these tumors into four molecular subgroups (WNT, SHH, Group 3, and Group 4 MB). Recently, a comprehensive classification has been established, identifying numerous subtypes, some of which exhibit a poor prognosis.

Real-time glioblastoma tumor microenvironment assessment by SpiderMass for improved patient management.

Glioblastoma is a highly heterogeneous and infiltrative form of brain cancer associated with a poor outcome and limited therapeutic effectiveness. The extent of the surgery is related to survival. Reaching an accurate diagnosis and prognosis assessment by the time of the initial surgery is therefore paramount in the management of glioblastoma.

[What's new in the management of meningeal solitary fibrous tumor/hemangiopericytoma?].

Meningeal fibrous solitary tumors/hemangiopericytoma are rare and aggressive mesenchymal neoplasms considered as sarcomas. They represent less than 1% of intracranial tumors and derive from the pericytes of Zimmerman which permit capillary contraction. They tend to occur more often in males in the fifth decade.

Does the medical autopsy still have a place in the current diagnostic process? A 6-year retrospective study in two French University hospitals.

Medical autopsies have been in considerable decline for several decades, in France and worldwide. We aimed to determine whether a medical autopsy still currently has a role to play in diagnosis, by analyzing its performance and diagnostic limitations. This dual-centre retrospective descriptive study included all medical autopsies performed in the university hospitals of Lille and Marseille, France, between January 2007 and December 2012.

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.

Aims: Mutations in PRKAG2, the gene encoding for the γ2 subunit of 5'-AMP-activated protein kinase (AMPK), are responsible for an autosomal dominant glycogenosis with a cardiac presentation, associating hypertrophic cardiomyopathy (HCM), ventricular pre-excitation (VPE), and progressive heart block. The aim of this study was to perform a retrospective time-to-event study of the clinical manifestations associated with PRKAG2 mutations.

Methods And Results: A cohort of 34 patients from 9 families was recruited between 2001 and 2010.

Patterns of response to crizotinib in recurrent glioblastoma according to ALK and MET molecular profile in two patients.

Two patients with an unmethylated MGMT promoter and IDH1 (R132H) wild-type recurrent glioblastoma were treated with crizotinib. Prolonged stabilization of the disease (17 months) was achieved in the first case. Interestingly, anaplastic lymphoma kinase (ALK) expression and c-MET protein overexpression was observed.

Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytoma.

We report the first case of a child with a H3F3A K27M mutated pilocytic astrocytoma, who presented with a 10 years survival, and underwent spontaneous malignant transformation. The complex tumoral chromosomal rearrangements were consistent for genomic instability and for the histopathological features of malignant transformation into glioblastoma. H3F3A K27M mutations are rarely observed in benign neoplasms and may be associated with an adverse outcome.

MYD88 L265P mutation contributes to the diagnosis of Bing Neel syndrome.

Bing-Neel syndrome (BNS), a rare neurological syndrome associated with Waldenström macroglobulinaemia (WM), is a direct involvement of the central nervous system by lymphoplasmacytoid cells characterized with an adverse prognostic. The MYD88 L265P mutation has been identified in the vast majority of patients with WM. The diagnosis of BNS is often challenging because of the variety of clinical presentations associated with difficult histological techniques.

Reduced sphingosine kinase-1 and enhanced sphingosine 1-phosphate lyase expression demonstrate deregulated sphingosine 1-phosphate signaling in Alzheimer's disease.

Background: The accumulation of beta amyloid (Aβ) peptides, a hallmark of Alzheimer's disease (AD) is related to mechanisms leading to neurodegeneration. Among its pleiotropic cellular effects, Aβ accumulation has been associated with a deregulation of sphingolipid metabolism. Sphingosine 1-phosphate (S1P) derived from sphingosine is emerging as a critical lipid mediator regulating various biological activities including cell proliferation, survival, migration, inflammation, or angiogenesis.

Glioblastoma occurring after the surgical resection of a craniopharyngioma.

The authors report the case of a man who underwent cranial surgery for the removal of a craniopharyngioma using a right pterional approach. Three months later, he developed a right-sided temporal glioblastoma. The presentation is suggestive of a causal relationship between surgery and the development of a malignant glial tumor.

Are stereotactic sample biopsies still of value in the modern management of pineal region tumours? Lessons from a single-department, retrospective series.

Objective: Recent improvements in imaging-based diagnosis, the broader application of neuroendoscopic techniques and advances in open surgery techniques mean that the need for stereotactic biopsies in the management of pineal region tumours must be reevaluated. The primary aim of this retrospective study was to establish whether stereotactic biopsy is still of value in the modern management of pineal region tumours.

Methods: From 1985 to 2009, 88 consecutive patients underwent a stereotactic biopsy in our institution (51 males and 37 females; median age at presentation 30; range 2-74).

Neuropathological and MRI findings in an acute presentation of hemiconvulsion-hemiplegia: a report with pathophysiological implications.

Unlabelled: The mechanisms underlying the hemiconvulsion-hemiplegia-epilepsy syndrome (HHE) remain unclear. The current proposed pathogenic mechanism is a neuronal injury induced by venous thrombosis and/or hypoxia. Previous abnormalities of the brain were suggested as underlying mechanism.

Microphthalmia transcription factor analysis in posterior uveal melanomas.

Purpose: The protein encoded by the Microphthalmia gene (MITF) is a transcription factor essential for the development and survival of melanocytes. It serves as a master regulator in modulating extracellular signals. Because of its central role in melanocytes survival and to assess its potential use as a histopathological marker for melanoma, MITF expression was examined in human choroidal melanomas.