Journal of Korean Neurosurgical Society最新文献

{"title":"Von Hippel-Lindau Disease : A Comprehensive Review of Diagnosis, Genetics, Clinical Challenges, and Surveillance.","authors":"Na Young Jung, Jun Bum Park","doi":"10.3340/jkns.2025.0018","DOIUrl":"10.3340/jkns.2025.0018","url":null,"abstract":"<p><p>von Hippel-Lindau (VHL) disease is a genetic condition predisposing individuals to the development of benign and malignant tumors across various organs. This review explores the intricate genetic underpinnings of VHL disease, its clinical manifestations, and the associated malignancy risks. The latest diagnostic criteria, surveillance guidelines, and advancements in therapeutic strategies, including the Food and Drug Administration-approved hypoxia-inducible factor-2α inhibitor, belzutifan, are focused on. Through a multidisciplinary approach, tailored surveillance programs aim to improve patient outcomes while balancing intervention risks. Emerging technologies such as wholebody magnetic resonance imaging and liquid biopsies hold promises for enhancing non-invasive surveillance. This review underscores the significance of ongoing research and interdisciplinary care in managing this complex syndrome.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":"338-349"},"PeriodicalIF":1.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12062539/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"New Perspectives into the Combined Pterional and Interhemispheric Approach during Ruptured Anterior Communicating Artery Aneurysm Surgery in the Endovascular Treatment Era.","authors":"Dong-Seong Shin, Ho Jun Yi, Seung-Jae Lee, Bum-Tae Kim","doi":"10.3340/jkns.2025.0020","DOIUrl":"10.3340/jkns.2025.0020","url":null,"abstract":"","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":"369-372"},"PeriodicalIF":1.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12062530/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and Genetic Overview of Neurofibromatosis Type 2 (NF2).","authors":"Tae-Kyun Kim, Young-Soo Park, Ichiro Nakagawa","doi":"10.3340/jkns.2025.0048","DOIUrl":"10.3340/jkns.2025.0048","url":null,"abstract":"<p><p>Neurofibromatosis type 2 (NF2) is an autosomal dominant disease characterized by bilateral vestibular schwannomas and other central nervous tumors such as meningiomas and spinal ependymomas. Symptoms vary according to the age at diagnosis and the location of these tumors. The diagnostic criteria of NF2 have been regularly revised and recently updated in 2022 with a new nomenclature \"NF2-related schwannomatosis\" to differentiate NF2 from other schwannoma predisposing disorders, such as SMARCB1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1)-, LZTR1 (leucine zipper-like transcription regulator 1)-, and 22q-related schwannomatosis. Addition to the clinical features, genetic testing for pathogenic variants in these genes became an important essence to support diagnosis of NF2 and other schwannomatosis, including mosaic conditions.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":"272-277"},"PeriodicalIF":1.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12062535/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Management Strategies of Neurofibromatosis Type 2 in Pediatric Patients : Challenges and Emerging Therapies.","authors":"Jong Seok Lee","doi":"10.3340/jkns.2024.0237","DOIUrl":"10.3340/jkns.2024.0237","url":null,"abstract":"<p><p>Neurofibromatosis type 2 (NF2) is a rare genetic disorder caused by mutations in the NF2 tumor suppressor gene, characterized by bilateral vestibular schwannomas and other central and peripheral nervous system tumors. Pediatric patients often present with more aggressive disease, greater tumor burdens, and increased morbidity compared to adults. Management requires a multidisciplinary approach that balances tumor control with functional preservation. While surgery and radiosurgery remain key treatment options, they carry risks such as hearing loss and malignant transformation of existing tumors. Bevacizumab and emerging therapies like gene therapy show promising therapeutic effects but are limited by variability in efficacy. Comprehensive care, including psychosocial support, is essential to improve clinical outcomes and quality of life for children with NF2.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":"278-285"},"PeriodicalIF":1.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12062534/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143483418","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Germline Variants in Pediatric Cancer : Based on Oncogenic Pathways.","authors":"Joo Whan Kim","doi":"10.3340/jkns.2025.0011","DOIUrl":"10.3340/jkns.2025.0011","url":null,"abstract":"<p><p>Pathogenic germline variants (PGVs) are increasingly recognized as critical elements in pediatric cancer predisposition. Determining the pathogenicity of germline variants is a dynamic process, with advancements in next-generation sequencing and expanding genome databases reshaping our understanding of cancer genomics. This article reviews the role of PGVs in key oncogenic pathways, including RTK (receptor tyrosine kinase)/RAS/MAPK (mitogen-activated protein kinase), PI3K (phosphatidylinositol 3-kinase)/AKT (v-akt murine thymoma viral oncogene homolog 1), WNT (wingless-type), and Hedgehog signaling, highlighting their associations with specific cancer predisposition syndromes and neurosurgical implications. Most PGVs are inherited in an autosomal dominant pattern and are frequent in tumor suppressor genes, while autosomal recessive conditions like Ataxia-telangiectasia and Fanconi anemia are less common. Germline variants in proto-oncogenes such as PTPN11, KRAS, and HRAS are associated with RASopathies, including Noonan and Costello syndromes, which show variable cancer risks. Similarly, PTEN PGVs, linked to Cowden syndrome, and DICER1 PGVs, responsible for DICER1 syndrome, exemplify the diverse clinical presentations and risks of pediatric cancer predisposition syndromes. Medulloblastoma, a pediatric-specific brain tumor, shows an increasing proportion of PGVs, with approximately 12% of all medulloblastomas harboring PGVs in APC, PTCH1, SUFU, and ELP1 in the WNT-activated and sonic hedgehog-activated subtypes. Emerging evidence suggests that approximately 8.5-20% of pediatric cancer patients harbor PGVs, with a substantial proportion arising de novo. Routine germline screening for pediatric cancer patients is increasingly recommended, as many PGVs lack family history. Programs like STREAM (Solid Tumor REsearch And Magic) in Korea underscore the importance of comprehensive pediatric genome databases for personalized precision medicine. As neurosurgeons are frequently the first to encounter central nervous system tumor manifestations, a robust understanding of genomic medicine is essential. This review emphasizes the need for international collaboration to develop actionable insights into pediatric cancer genomics, ultimately improving diagnostic, therapeutic, and preventive strategies.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":"350-359"},"PeriodicalIF":1.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12062542/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143441090","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy of Anti-Adhesive Substitute and Step-by-Step Techniques in Decompressive Craniectomy and Subsequent Cranioplasty.","authors":"You-Sub Kim, Jae-Woong Kim, Sung-Pil Joo, Tae-Sun Kim","doi":"10.3340/jkns.2024.0176","DOIUrl":"https://doi.org/10.3340/jkns.2024.0176","url":null,"abstract":"<p><strong>Objective: </strong>Dural substitutes have been widely used in decompressive craniectomy to prevent adhesion, and have significantly reduced blood loss and operation time. However, there are only limited studies providing information regarding detailed techniques and the specific operation time that is associated with good prognoses. In this study, we evaluate the effectiveness of using a dural substitute as an anti-adhesive material during cranioplasty, focusing on technical details and operation time from incision to bone closure.</p><p><strong>Methods: </strong>A retrospectively reviewed total of 66 patients were included who underwent a craniectomy and subsequent cranioplasty caused by either a severe traumatic brain injury (n=35) or malignant infarction (n=31). The patients were divided into two groups depending on whether Neuro-Patch was used or not (31 in the Neuro-Patch group, 35 in the non-Neuro-Patch group). Propensity score matching was used to minimize the differences. Associated morbidities as well as operation time, and blood loss were analyzed and compared between the two groups.</p><p><strong>Results: </strong>To prevent adhesion, Neuro-Patch was placed as an onlay, enough to cover the surrounding skull at least 1 cm beyond the bone edges. A small piece was also placed over the temporalis muscle during the craniectomy. A step-by-step dissection was performed to minimize retraction-related injury during the subsequent cranioplasty. The mean estimated blood loss was significantly lower in the Neuro-Patch group (54.6±34.9 vs. 149.0±70.8 mL, p<0.001) and the mean time from incision to bone closure in the Neuro-Patch group was 40.8±14.3 minutes, which was significantly lower than in the non-Neuro-Patch group (91.5±38.2 minutes) as well. For each analysis of complications, the differences were not significant, however, the overall complication rate was significantly lower in the Neuro-Patch group (9.7%) than in the non-Neuro-Patch group (42.9%).</p><p><strong>Conclusion: </strong>Neuro-Patch can be used safely and effectively as an anti-adhesive substitute during cranioplasty. To improve clinical outcomes as well as intraoperative parameters including the time from incision to bone closure, planned placement of Neuro-Patch during craniectomy and the step-by-step dissection during cranioplasty is important.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":"68 3","pages":"360-368"},"PeriodicalIF":1.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12062532/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143988575","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Insights into Tuberous Sclerosis Complex : From Genes to Clinics.","authors":"Soo Yeon Kim","doi":"10.3340/jkns.2025.0035","DOIUrl":"10.3340/jkns.2025.0035","url":null,"abstract":"<p><p>Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by pathogenic variants of TSC1 or TSC2 genes, leading to dysregulation of the mammalian target of rapamycin (mTOR) pathway. This dysregulation results in the formation of organ-specific tumors and neurological manifestations such as seizures, intellectual disability, and developmental delays. These characteristic clinical features are crucial for diagnosis, and genetic testing is playing an increasingly significant role. Long-term disease monitoring and appropriate interventions by multidisciplinary experts, including the use of mTOR inhibitors and promising therapeutic agents based on disease pathomechanisms, are essential for effective TSC management and improved clinical outcomes.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":"321-337"},"PeriodicalIF":1.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12062541/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639504","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lifelong Management of Neurofibromatosis 1 Patients.","authors":"Sangjoon Chong","doi":"10.3340/jkns.2025.0057","DOIUrl":"https://doi.org/10.3340/jkns.2025.0057","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":"68 3","pages":"261-271"},"PeriodicalIF":1.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12062527/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143970396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Basis and Clinical Management of Schwannomatosis.","authors":"Shohei Nagasaka, Ji Hoon Phi","doi":"10.3340/jkns.2025.0001","DOIUrl":"10.3340/jkns.2025.0001","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":"286-293"},"PeriodicalIF":1.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12062529/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143572920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Preface : Invited Issue Editor, Professor Tai-Tong Wong and the Cancer Predisposition Syndrome.","authors":"Ji Hoon Phi, Tai-Tong Wong, Seung-Ki Kim","doi":"10.3340/jkns.2025.0063","DOIUrl":"10.3340/jkns.2025.0063","url":null,"abstract":"","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":"249-251"},"PeriodicalIF":1.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12062533/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}