Journal of Korean Neurosurgical Society最新文献

Neurofibromatosis type 1 (NF1) is a prevalent genetic disorder characterized by a wide spectrum of clinical manifestations, including cutaneous, neurological, and oncological complications. The disease results from mutations in the NF1 gene, which encodes neurofibromin, a tumor suppressor that regulates the RAS/mitogen-activated protein kinase (MAPK) pathway. The loss of neurofibromin function predisposes individuals to both benign and malignant neoplasms, including malignant peripheral nerve sheath tumors, optic pathway gliomas, and gastrointestinal stromal tumors. Additionally, women with NF1 are at a significantly increased risk of developing breast cancer at a younger age, necessitating enhanced surveillance measures. Beyond oncological risks, NF1 is frequently associated with cognitive and behavioral impairments, including learning disabilities, attention-deficit hyperactivity disorder, and social communication difficulties, which significantly impact academic, occupational, and social outcomes. Moreover, systemic complications such as skeletal deformities, cardiovascular abnormalities, and chronic pain further contribute to the disease burden. Given the progressive and lifelong nature of NF1, comprehensive care strategies incorporating multidisciplinary management, early detection, and targeted interventions are essential to optimizing patient outcomes. This review highlights the importance of an integrative, lifelong management approach that addresses both the medical and psychosocial aspects of NF1. By implementing tailored surveillance programs and evidence-based interventions, healthcare providers can improve quality of life and reduce morbidity and mortality associated with this complex disorder.

Schwannomatosis (SWN) is now recognized as a broad classification that includes neurofibromatosis (NF) type 2, reflecting their shared genetic and phenotypic characteristics. Previously, SWN and NF type 2 were considered distinct clinical entities; however, the 2022 classification revision has unified them under the umbrella of SWN, with NF type 2 now referred to as NF2-related SWN. SWN arises from mutations in NF2, SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1) or LZTR1 (leucine zipper like transcription regulator 1). Recent diagnostic criteria for SWN incorporate molecular classification, including "NF2-related SWN", "SMARCB1-related SWN", "LZTR1-related SWN", "22q-related SWN", "SWN-not otherwise specified", or "SWN-not elsewhere classified". NF2-related SWN is a genetic condition where all individuals with a germline or constitutional NF2 mutation are destined to develop the disease. The pathogenesis of SMARCB1- or LZTR1-related SWN follows a three-step, four-hit model. This involves retention of the mutated germline SMARCB1 or LZTR1 allele in the tumor, loss of the wild-type chromosome 22, and somatic mutation in the NF2 gene. Clinically, NF2-related SWN involves bilateral vestibular schwannomas, with treatment options including microsurgery, radiotherapy, and bevacizumab, each with specific benefits and limitations. Patients with SWN frequently present with chronic pain caused by schwannomas, which often does not correlate with tumor size, location, or burden. Management of SWN is primarily symptom-based. Surgical intervention is reserved for symptomatic lesions, particularly in cases of spinal cord compression or significant functional impairments. Multidisciplinary approaches to pain management are critical for enhancing quality of life. Although malignant transformation of schwannomas is a potential risk, the life expectancy of individuals with SWN is nearly normal. Despite advancements in understanding SWN, further research is necessary to elucidate the underlying genetic mechanisms and to develop targeted therapeutic strategies for this complex disorder.

Objective: Glioblastoma multiforme (GBM) is characterized by substantial heterogeneity and limited therapeutic options. As molecular approaches to central nervous system tumors have gained prominence, this study examined the roles of three genes, TWIST2, GATA3, and HES5, known to be involved in oncogenesis, developmental processes, and maintenance of cancer stem cell properties, which have not yet been extensively studied in GBM. This study is the first to present gene expression data for TWIST2, GATA3, and HES5 specifically within the context of GBM patient survival.

Methods: Gene expression data for TWIST2, GATA3, and HES5 were collected from GBM and normal brain tissues using datasets from The Cancer Genome Atlas via the Genomic Data Commons portal and the Genotype-Tissue Expression database. These data were rigorously analyzed using in silico methods.

Results: All three genes were significantly more expressed in GBM tissues than in normal tissues. TWIST2 and GATA3 were linked to lower survival rates in GBM patients. Interestingly, higher HES5 levels were associated with better survival rates, suggesting a complex role that needs more investigation.

Conclusion: This study shows that TWIST2, GATA3, and HES5 could help predict outcomes in GBM patients. Our multigene model offers a better understanding of GBM and points to new treatment options, bringing hope for improved therapies and patient outcomes. This research advances our knowledge of GBM and highlights the potential of molecular diagnostics in oncology.

Objective: Baculovirus inhibitory of apoptosis repeat-containing 5 (BIRC5) is critically implicated in various types of tumors. However, the specific mechanisms by which it operates in glioma are yet to be fully understood.

Methods: The data sourced from The Cancer Genome Atlas and Gene Expression Omnibus were merged and analyzed using the R software to investigate the relationship between BIRC5 expression and prognosis and diagnosis outcomes. This exploration was conducted utilizing various biological information repositories. The correlation between BIRC5 and immunity was obtained based on TIMER and TISIDB databases.

Results: Gliomas displayed a markedly elevated level of BIRC5 expression compared to adjacent tissues. Patients with glioma who exhibit elevated levels of BIRC5 experience poorer prognoses and shorter survival times. Subgroup classification further revealed that heightened expression of BIRC5 led to diminished overall survival. Analysis of logistic regression and COX indicated that expression of BIRC5 serves as a risk factor in glioma development. Functional enrichment pathways showed that the 72 hub genes related to BIRC5 were mainly closely related to nuclear division, spindle, tubulin binding, and cell cycle in glioma patients. BBIRC5 methylation suggested that BIRC5 might influence the immune response regulation and the tumor microenvironment within gliomas. BIRC5 is associated with many chemicals. Additionally, studies conducted using cell experiments and pathological sections have consistently shown that BIRC5 expression is higher in tumor cells compared to normal cells and tissues.

Conclusion: BIRC5 holds promise as a valuable tool in the diagnosis, prognosis, and management of gliomas.

Objective: In degenerative lumbar spondylolisthesis, interbody fusion surgery (IFS) has long been recommended as the gold standard of surgical management. However, IFS is less recommended for high-risk patients such as the elderly because it involves extensive surgery, with a long operation time and high volumes of blood loss, which lead to marked perioperative morbidity. We report an alternative primary and salvage treatment technique for high-risk lumbar spondylolisthesis through posterior lumbar element reinforcement using interspinous fixation and decompression alone without interbody fusion.

Methods: Plain radiographs, computed tomography scans, and magnetic resonance imaging, taken at different intervals, were used to measure local disc height (DH), vertebral body slippage (BS), and segmental motion angle (SMA). A Visual analogue scale and the Oswestry disability index (ODI) were applied pre-operation and at the last follow-up.

Results: The local SMA decreased significantly by 3.46°±3.07°, from 10.61°±3.42° preoperatively to 7.15±3.70 at the last follow-up (p<0.001). The DH decreased from 8.61±2.88 mm preoperatively to 8.41±2.48 mm at the last follow-up (p=0.074). The BS decreased from 3.49±4.29 mm preoperatively to 3.41±4.91 mm at the last follow-up (p=0.092). None of the patients reported worsening pain or an increased ODI after surgery, and there were no surgery-related complications.

Conclusion: Posterior lumbar element reinforcement by decompression alone with SPIRE™ fixation is an alternative primary and salvage treatment option for select patients with spondylolisthesis.

The endoscopic transsphenoidal approach is a common approach used in skull base neurosurgery to reach the sellar region. One of the intraoperative risks of this approach is intraoperative bleeding out of the carotid artery. Gentle drilling can prevent carotid artery injury. However, injury to smaller branches, such as the McConnell's capsular artery, which is located within the surgical corridor, is more difficult to prevent. If such an injury is within the junction to the main trunk of the carotid artery, there will be a small circular defect in this area. This can result in massive blood loss and should be closed surgically immediately. We describe a clinical case of intraoperative bleeding from the McConnell's artery originating from the carotid arterial segment (C4) in a 78-year-old female patient operated on for planum sphenoidale meningioma via endoscopic transsphenoidal approach, as well as provide a technical note on a possible technique for bleeding control in such cases. Pinpoint carotid bleeding as a result of intraoperative injury can be stopped by wedging a bone fragment in the carotid canal and fixing it in that position with histoacryl glue at the defect site.