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Non-Syndromic Spinal Schwannomas: A Novel Classification.

ABSTRACT: Schwannomas are the most frequent primary tumors of the spine with an incidence of 0.3-0.5/100,000 person per year. Current treatment for non-syndromic spinal schwannomas is total resection of the tumor with preservation of neurovascular structures. This study aims to report neurologic and radiologic outcome following treatment of non-syndromic spinal schwannomas along with a novel tumor classification used in our clinic. A retrospective case series was carried out with a patient sample of 82 male and female patients with non-syndromic spinal schwannomas. All patient data were retrospectively collected from the hospital records. As a routine procedure, after admittance and primary evaluation, patients' tumors were classified using CT or MRI in accordance with our proposed classification method, which employs a dual designation method with tree groups (A, B, and C) for tumor volume and four types (I, II, III, and IV) for tumor localization. Subsequent resection surgery was followed by neurological assessments and follow up at 45th, 180th, and 360th postoperative day. Along with Karnofsky performance status scale, pain, sensory deficits, and motor weakness were scored to assess neurologic recovery. Our finding indicates that patients with different tumor types significantly differ in their neurological scores and show consistent but differential neurological recovery at early and late time points postsurgery. Complications during and postsurgery were minimal, occurring only in two patients. Our findings further reinforce the established safety of total resection operations and indicate that our proposed classification is a simple, effective tool that has proven helpful in preoperative planning and avoiding unnecessary surgical approaches.

SUBMITTER: Sun I

PROVIDER: S-EPMC5511849 | biostudies-other | 2017

REPOSITORIES: biostudies-other

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Project description:Hearing loss is considered one of the most common sensory neurological defects, with approximately 60% of cases attributed to genetic factors. Human pathogenic variants in the TBC1D24 gene are associated with various clinical phenotypes, including dominant nonsyndromic hearing loss DFNA65, characterized by progressive hearing loss after the development of language. This study provides an in-depth analysis of the causative gene and mutations in a family with hereditary deafness. We recruited a three-generation family with autosomal dominant nonsyndromic hearing loss (ADNSHL) and conducted detailed medical histories and relevant examinations. Next-generation sequencing (NGS) was used to identify genetic variants in the proband, which were then validated using Sanger sequencing. Multiple computational software tools were employed to predict the impact of the variant on the function and structure of the TBC1D24 protein. A series of bioinformatics tools were applied to determine the conservation characteristics of the sequence, establish a three-dimensional structural model, and investigate changes in molecular dynamics. A detailed genotype and phenotype analysis were carried out. The family exhibited autosomal dominant, progressive, postlingual, and nonsyndromic sensorineural hearing loss. A novel heterozygous variant, c.1459C>T (p.His487Tyr), in the TBC1D24 gene was identified and confirmed to be associated with the hearing loss phenotype in this family. Conservation analysis revealed high conservation of the amino acid affected by this variant across different species. The mutant protein showed alterations in thermodynamic stability, elasticity, and conformational dynamics. Molecular dynamics simulations indicated changes in RMSD, RMSF, Rg, and SASA of the mutant structure. We computed the onset age of non-syndromic hearing loss associated with mutations in the TBC1D24 gene and identified variations in the hearing progression time and annual threshold deterioration across different frequencies. The identification of a new variant associated with rare autosomal dominant nonsyndromic hereditary hearing loss in this family broadens the range of mutations in the TBC1D24 gene. This variant has the potential to influence the interaction between the TLDc domain and TBC domain, thereby affecting the protein's biological function.

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Non-Syndromic Spinal Schwannomas: A Novel Classification.

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