Recurrent schwannomatosis with mosaic SMARCB1 loss: A case report.

Schwannomatosis is a non-cancerous disorder causing peripheral nerve sheath tumors (schwannomas), often leading to chronic pain. It is linked to loss of SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily B member 1 ( or leucine zipper-transcription regulator 1 gene function, though some patients may initially show minor mutations or no clinical signs, resulting in misdiagnosis, missed assessments, increased recurrence risk, unawareness of malignancy and overlooked genetic counseling during pregnancy. The present study reports a patient with a sporadic synonymous mutation in the gene [SNP in exon 8].

Improving glioma drug delivery: A multifaceted approach for glioma drug development.

Glioma is one of the most common central nervous system (CNS) cancers that can be found within the brain and the spinal cord. One of the pressing issues plaguing the development of therapeutics for glioma originates from the selective and semipermeable CNS membranes: the blood-brain barrier (BBB) and blood-spinal cord barrier (BSCB). It is difficult to bypass these membranes and target the desired cancerous tissue because the purpose of the BBB and BSCB is to filter toxins and foreign material from invading CNS spaces.

Current and emerging targeted therapies for spinal muscular atrophy.

Introduction: Spinal muscular atrophy (SMA) is a progressive neurodegenerative disorder caused by insufficiency or total absence of the survival motor neuron protein due to a mutation in the gene. The copy number of its paralog, , influences disease onset and phenotype severity. Current therapeutic approaches include viral and non-viral modalities affecting gene expression.

Tumor microenvironment in a minipig model of spinal cord glioma.

Background: Spinal cord glioma (SCG) is considered an orphan disease that lacks effective treatment options with margins that are surgically inaccessible and an overall paucity of literature on the topic. The tumor microenvironment is a critical factor to consider in treatment and modeling design, especially with respect to the unresectable tumor edge. Recently, our group developed a high-grade spinal cord glioma (SCG) model in Göttingen minipigs.