Differentiation of rare brain tumors through unsupervised machine learning: Clinical significance of in-depth methylation and copy number profiling illustrated through an unusual case of IDH wildtype glioblastoma.

Methylation profiling has become a mainstay in brain tumor diagnostics since the introduction of the first publicly available classification tool by the German Cancer Research Center in 2017. We demonstrate the capability of this system through an example of a rare case of IDH wildtype glioblastoma diagnosed in a patient previously treated for T-cell acute lymphoblastic leukemia. Our novel in-house diagnostic tool EpiDiP provided hints arguing against a radiation-induced tumor, identified a novel recurrent genetic aberration, and thus informed about a potential therapeutic target.

Fragile-X-Associated Tremor/Ataxia Syndrome or Alcohol-Induced Cerebellar Degeneration? A Case Report.

Fragile-X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that manifests with intention tremor, progressive gait ataxia, and cognitive impairment. The disease is genetically characterized by a premutation of the FMR1gene on the X-chromosome manifesting with a CGG triplet expansion between 55 and 200. Given the phenotypical variety of this disease, diagnosis is frequently delayed. We present and discuss a male patient whose diagnosis of FXTAS was delayed due to his concomitant alcohol abuse.

Primary Angiitis of the Central Nervous System: From Psychiatry to Neurology.

We present a case of a 54-year-old man with primary angiitis of the central nervous system (PACNS) who was initially admitted to a psychiatric clinic with a diagnosis of delirium. We discuss the difficulty in establishing the diagnosis of PACNS and provide the reader with some recommendations on how to promptly and correctly diagnose this disease in order to avoid potentially lethal outcomes.

The cerebellar peduncle as localization of a recurrent atypical plexus papilloma: A case report.

BACKGROUND: Choroid plexus papillomas (CPPs) are infrequently encountered brain tumors with the majority originating in the ventricular system. Rarely, CPP occurs outside of the ventricles. CASE DESCRIPTION: We report the case of a recurrent CPP that initially originated within the fourth ventricle, though years later it recurred in the left middle cerebellar peduncle. CONCLUSION: Patients with cerebellar plexus papilloma need long-term follow-up comprising regular magnetic resonance imagings since, in patients with a history of CPP, any new mild symptomatology, even years after the initial presentation, may be an early sign of tumor recurrence.