Journal of Korean Neurosurgical Society最新文献

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Comparative Study on Clinical Outcomes of Posterior Endoscopic Cervical Foraminotomy under Local Anesthesia with Conscious Sedation and General Anesthesia. 局麻清醒镇静与全麻下后路内窥镜颈椎椎间孔切开术临床效果的比较研究。
IF 1.4 4区 医学
Journal of Korean Neurosurgical Society Pub Date : 2025-06-09 DOI: 10.3340/jkns.2024.0229
Jason K Lim, Marium Raza, Do H Lim, Samuel Kim, Jeffrey M Breton, David Zhao, Patrick Kim, Mani N Nair, Christoph P Hofstetter, Byeong Cheol Rim
{"title":"Comparative Study on Clinical Outcomes of Posterior Endoscopic Cervical Foraminotomy under Local Anesthesia with Conscious Sedation and General Anesthesia.","authors":"Jason K Lim, Marium Raza, Do H Lim, Samuel Kim, Jeffrey M Breton, David Zhao, Patrick Kim, Mani N Nair, Christoph P Hofstetter, Byeong Cheol Rim","doi":"10.3340/jkns.2024.0229","DOIUrl":"https://doi.org/10.3340/jkns.2024.0229","url":null,"abstract":"<p><strong>Objective: </strong>Posterior endoscopic cervical foraminotomy (PECF) is a minimally invasive surgical technique for treating cervical radiculopathy. Traditionally, PECF is performed under general anesthesia in the prone position, but concerns over anesthesia-related complications have led to the exploration of local anesthesia in the lateral decubitus position as an alternative. This study aims to compare the clinical outcomes, safety, and efficacy of PECF performed under local anesthesia in the lateral decubitus position versus general anesthesia in the prone position.</p><p><strong>Methods: </strong>We conducted a retrospective analysis of 13 patients who underwent PECF under local anesthesia in the lateral decubitus position. The outcomes were compared with data from 357 patients across eight studies who underwent PECF under general anesthesia in the prone position. Outcomes measures included visual analog scale (VAS) pain scores, Oswestry disability Index (ODI), length of stay (LOS), minimally clinically important difference (MCID), and complications.</p><p><strong>Results: </strong>Patients in the local anesthesia group demonstrated significant reductions in neck pain (VAS-N: 4.93±1.32 to 1.49±0.52, p<0.001) and arm pain (VAS-A: 8.69±0.75 to 1.85±1.46, p<0.001), achieving a mean pain reduction of 78.8%. These improvements were comparable to the general anesthesia group (VAS-N: 4.80 to 1.28; VAS-A: 6.71 to 1.23). Functional outcomes improved significantly in both groups, with ODI scores improving from 54.76% to 9.82% locally and from 39.92% to 9.62% in the general group. Although length of stay was slightly longer for the local anesthesia group (5.85±3.20 vs. 4.81±2.17 days, p=0.18), post-procedure monitoring time was significantly shorter (3.2 vs. 7.4 hours, p<0.001). The local anesthesia group reported zero complications (0%, 95% CI: 0-22.8%) compared to an 8.68% complication rate (95% CI: 5.8%-11.6%) in the general anesthesia cohort (p=0.612).</p><p><strong>Conclusion: </strong>PECF under local anesthesia in the lateral decubitus position provides comparably effective pain relief and functional improvement comparable to general anesthesia, though the difference in complication rates was not statistically significant and requires larger studies for confirmation. This technique may be particularly advantageous for patients at higher risk for anesthesia-related complications. Further research is warranted to validate these findings in larger, prospective studies.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248202","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Short-Segment Fixation with Anterior Support versus Long-Segment Fixation with Separation Surgery for Thoracolumbar Spinal Metastatic Tumors : A Comparative Analysis. 短节段与长节段固定治疗胸腰椎转移性肿瘤的临床和放射学结果:回顾性比较分析。
IF 1.4 4区 医学
Journal of Korean Neurosurgical Society Pub Date : 2025-06-09 DOI: 10.3340/jkns.2024.0208
Younggyu Oh, Subum Lee, Jinuk Kim, Seo Eun Kim, Jae Hwan Cho, Jin Hoon Park
{"title":"Short-Segment Fixation with Anterior Support versus Long-Segment Fixation with Separation Surgery for Thoracolumbar Spinal Metastatic Tumors : A Comparative Analysis.","authors":"Younggyu Oh, Subum Lee, Jinuk Kim, Seo Eun Kim, Jae Hwan Cho, Jin Hoon Park","doi":"10.3340/jkns.2024.0208","DOIUrl":"10.3340/jkns.2024.0208","url":null,"abstract":"<p><strong>Objective: </strong>This study aims to evaluate and compare the clinical and radiographic outcomes of patients with metastatic spinal tumors who underwent either short-segment fixation with anterior support or long-segment fixation with a separation surgery in the thoracic or lumbar spine.</p><p><strong>Methods: </strong>We conducted a retrospective analysis of adult patients who were treated surgically for spinal metastases in the thoracic or lumbar spine at a single tertiary referral center between April 2014 and December 2022. Surgical treatments included spinal cord decompression, short-segment fixation with maximal circumferential debulking of the lytic tumor portion and anterior support, or long-segment fixation without anterior support, followed by separation surgery and posterolateral fusion. We compared the two fixation strategies based on patient demographics, preoperative diagnoses, surgical data, neurological assessments, and changes in segmental Cobb angles immediately after surgery, and at the final follow-up.</p><p><strong>Results: </strong>A total of 91 patients were included (short-segment = 44, long-segment = 47). No significant differences were observed between the groups regarding age, sex, comorbidities, primary cancer location, postoperative complications, or reoperation rates. Furthermore, no significant differences in the sagittal Cobb angles, including global angle (thoracic kyphosis, lumbar lordosis) and segmental angle were noted from the preop to the final follow-up. Compared to traditional long-segment fixation, short-segment fixation with anterior support significantly improved neurological outcomes in the thoracic region and reduced the length of hospital stay. No significant differences were observed between the two groups regarding complications or other clinical outcomes.</p><p><strong>Conclusion: </strong>Short-segment fixation is comparable to long-segment fixation in the management of thoracolumbar metastatic spinal tumors, with no significant differences in radiographic outcomes. However, short-segment fixation provides the added advantages of improved neurological outcomes in the thoracic region and shorter hospital stays.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248201","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Transfusion Timing of Plasma and Red Blood Cells in a 1 : 1 Ratio Is Related with Survival and Functional Outcomes in Multiple Trauma Patients with Severe Traumatic Brain Injury. 重型颅脑损伤多发创伤患者血浆和红细胞输注时间1:1的比例与生存和功能预后相关
IF 1.4 4区 医学
Journal of Korean Neurosurgical Society Pub Date : 2025-06-09 DOI: 10.3340/jkns.2025.0006
Donghwan Choi, Nam Kyu You, Hohyung Jung, Dongmin Seo, Jaeri Yoo, Tae Seok Jeong
{"title":"The Transfusion Timing of Plasma and Red Blood Cells in a 1 : 1 Ratio Is Related with Survival and Functional Outcomes in Multiple Trauma Patients with Severe Traumatic Brain Injury.","authors":"Donghwan Choi, Nam Kyu You, Hohyung Jung, Dongmin Seo, Jaeri Yoo, Tae Seok Jeong","doi":"10.3340/jkns.2025.0006","DOIUrl":"https://doi.org/10.3340/jkns.2025.0006","url":null,"abstract":"<p><strong>Objective: </strong>High-ratio plasma transfusion is proposed as a strategy for treating polytrauma with severe traumatic brain injury (TBI). This study analyzed outcomes based on the ratio and timing of plasma transfusion.</p><p><strong>Methods: </strong>The clinical characteristics and results were collected from March 2016 to December 2022. Subjects included patients with severe TBI and polytrauma who underwent massive transfusion (MT). Severe TBI was defined as Head Abbreviated Injury Score (AIS) ≥3, and MT was defined as packed Red Blood Cells ≥4 units in the first 4 h and ≥10 units in the first 24 h. The 4-h ratios were assigned to the \"Early group,\" and the 24-h ratios to the \"Catch-up group.\" Next, the ratio of each group was divided into \"≥1:1\" and \"<1:1\" groups, respectively.</p><p><strong>Results: </strong>In this study, 532 patients participated. Mortality rates between the 1:2 and 1:1.5 ratios did not differ statistically; however, a significant difference was noted only at the 1:1 ratio (p=0.006). In the Early group, outcomes did not significantly differ. The logistic regression for 30-d mortality identified independent risk factors, including advanced age, low Glasgow Coma Scale (GOS) scores, high AIS head scores, and a ratio <1:1. For the Catch-up group, the odds ratio for a favorable GOS at ≥1:1 was 1.61, with a 30-d mortality rate of 0.60 when comparing ≥1:1 to <1:1 ratios.</p><p><strong>Conclusion: </strong>This study showed that maintaining a ≥1:1 plasma ratio for 24 h improved functional outcomes and survival, without increased morbidity. Therefore, high-ratio plasma transfusion may be effective in the treatment of patients with polytrauma and severe TBI.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144248204","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Low-Dose Bone Morphogenetic Protein Use in Spinal Fusion : Rethinking Clinical Efficacy. 低剂量骨形态发生蛋白在脊柱融合术中的应用:对临床疗效的重新思考。
IF 1.4 4区 医学
Journal of Korean Neurosurgical Society Pub Date : 2025-06-02 DOI: 10.3340/jkns.2025.0025
Jun Ho Lee, Ji Hyun Youn, Hyun Jung Park, Seung-Jae Hyun
{"title":"Low-Dose Bone Morphogenetic Protein Use in Spinal Fusion : Rethinking Clinical Efficacy.","authors":"Jun Ho Lee, Ji Hyun Youn, Hyun Jung Park, Seung-Jae Hyun","doi":"10.3340/jkns.2025.0025","DOIUrl":"https://doi.org/10.3340/jkns.2025.0025","url":null,"abstract":"<p><p>In spinal fusion surgery, autogenous bone grafting remains the gold standard for achieving optimal bone fusion; however, challenges such as donor site morbidity and limited graft availability have prompted active research into alternative options. Recombinant human bone morphogenetic protein-2 (rhBMP-2) exhibits excellent osteoinductive properties. Using rhBMP-2 was anticipated to promote early and effective fusion, particularly in challenging surgical scenarios involving elderly patients, those with low bone density, or individuals with multiple comorbidities, although in these populations, the biological response to rhBMP-2 may be attenuated and the risk of complications increased. This review provides a comprehensive overview of the development, characteristics, and dose-related adverse reactions of rhBMP-2 in spinal fusion, based on extensive clinical and experimental findings. Factors contributing to the decline in rhBMP-2 usage are also discussed. Furthermore, this review proposes a safer carrier with reduced rhBMP-2 doses to optimize delivery and minimize complications. Emphasis is placed on the critical role of carriers in improving bioavailability control, minimizing side effects, and better aligning with natural bone healing processes.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144216016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neurofibromatosis Type 1 : A General Review. 1型神经纤维瘤病:综述。
IF 1.4 4区 医学
Journal of Korean Neurosurgical Society Pub Date : 2025-05-20 DOI: 10.3340/jkns.2025.0073
Minhua Liao, Hsin-Lun Lee, Yen-Lin Liu, Tai-Tong Wong
{"title":"Neurofibromatosis Type 1 : A General Review.","authors":"Minhua Liao, Hsin-Lun Lee, Yen-Lin Liu, Tai-Tong Wong","doi":"10.3340/jkns.2025.0073","DOIUrl":"https://doi.org/10.3340/jkns.2025.0073","url":null,"abstract":"<p><p>Neurofibromatosis type 1 (NF1) is an autosomal-dominant genetic disorder caused by pathogenic variants in the NF1 gene. Its clinical phenotype is heterogeneous and evolves across the lifespan; approximately 1 in 3,000 individuals worldwide are affected. Cardinal features comprise café-au-lait macules, axillary/inguinal freckling, cutaneous neurofibromas, plexiform neurofibromas, and optic-pathway gliomas. Advanced molecular diagnostics-including next-generation sequencing (NGS) and RNA sequencing-have markedly improved mutation detection rates and facilitate definitive diagnosis. Therapeutic progress has also accelerated: the U.S. FDA has approved the MEK inhibitors selumetinib and mirdametinib for the treatment of plexiform neurofibromas, and these agents may offer benefit for additional NF1-related manifestations. The disorder further compromises skeletal integrity, neurocognitive function, and confers an increased risk of malignancy. This review highlights the necessity for multidisciplinary care of individuals with NF1, with emphasis on early diagnosis, age-stratified health-surveillance suggestion from infancy through adulthood, cancer-prevention strategies, and comprehensive genetic counseling, all aimed at mitigating complications and enhancing quality of life.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144110920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Study on Prognostic Risk Factors of Cervical Spondylotic Myelopathy. 脊髓型颈椎病预后危险因素的研究。
IF 1.4 4区 医学
Journal of Korean Neurosurgical Society Pub Date : 2025-05-20 DOI: 10.3340/jkns.2025.0021
Zihan Zhou, Yunxin Su, Yuqi Shao, Jiayun Liu, Xincan Wu, Peng Gao, Tao Qin, Kaixiao Xue, Guoyong Yin, Jian Chen
{"title":"A Study on Prognostic Risk Factors of Cervical Spondylotic Myelopathy.","authors":"Zihan Zhou, Yunxin Su, Yuqi Shao, Jiayun Liu, Xincan Wu, Peng Gao, Tao Qin, Kaixiao Xue, Guoyong Yin, Jian Chen","doi":"10.3340/jkns.2025.0021","DOIUrl":"https://doi.org/10.3340/jkns.2025.0021","url":null,"abstract":"<p><strong>Objective: </strong>To identify the risk factors that influence the prognosis of patients with cervical spondylotic myelopathy (CSM).</p><p><strong>Methods: </strong>Clinical data were collected from 158 CSM patients treated between January 2023 and January 2024 at a tertiary medical center. The data were retrospectively analyzed, with a one-year follow-up. Based on the Japanese Orthopaedic Association score, patients were categorized into good and poor recovery groups. Clinical characteristics, laboratory indices, and imaging findings were compared between the groups, and risk factors affecting CSM prognosis were identified.</p><p><strong>Results: </strong>In a multivariable analysis, age, symptom duration, preoperative Japanese Orthopaedic Association (JOA) score, spinal cord compression ratio, Treg cell count, the number of surgical levels and diabetes history were identified as significant predictors of postoperative outcomes. Interestingly, Treg cell counts showed a novel positive correlation with improvement rates (P < 0.001), suggesting their potential role in spinal cord recovery after surgery.</p><p><strong>Conclusion: </strong>These findings underscore the prognostic relevance of clinical and immunological factors for predicting surgical outcomes in CSM. The observed association between peripheral Treg counts and recovery rates reveals new insights into the immunological mechanisms underlying CSM prognosis, suggesting potential targets for personalized treatment strategies.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144102026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical Nomogram Model for Predicting the Prognosis of Patients with Brainstem Glioma : A Population-based Study. 预测脑干胶质瘤患者预后的临床Nomogram模型:一项基于人群的研究。
IF 1.4 4区 医学
Journal of Korean Neurosurgical Society Pub Date : 2025-05-20 DOI: 10.3340/jkns.2025.0037
Rui Zhang, Gaoyue Jiang, Yanming Ren, Yuekang Zhang, Xiaodong Niu
{"title":"Clinical Nomogram Model for Predicting the Prognosis of Patients with Brainstem Glioma : A Population-based Study.","authors":"Rui Zhang, Gaoyue Jiang, Yanming Ren, Yuekang Zhang, Xiaodong Niu","doi":"10.3340/jkns.2025.0037","DOIUrl":"https://doi.org/10.3340/jkns.2025.0037","url":null,"abstract":"<p><strong>Objective: </strong>The current understanding and clinical prediction of brainstem glioma (BSG) are still limited. This study aimed to conduct a large-scale population-based study to construct a clinical predictive model.</p><p><strong>Methods: </strong>Patients with BSG diagnosed histologically from 1973 to 2016 were identified using the SEER database. According to WHO grade, the whole population was divided into the LGBSG cohort and the HGBSG cohort. Univariate and multivariate cox regression analyses were employed to determine prognostic factors of OS. All independently prognostic variables were further used to construct nomograms to predict the 1- and 2-year overall survival probability. The precision and reliability of the nomogram were evaluated by C-index and calibration plots.</p><p><strong>Results: </strong>Cox regression analysis showed that four independent prognostic factors, were identified in the LGBSG cohort and two independent prognostic factors were identified in the HGBSG cohort. These independently prognostic factors and the main demographic data were further used to construct clinical nomograms for the LGBSG and HGBSG cohorts, respectively. The C-index for the internal validation was 0.89 (95%CI, 0.83-0.95) and 0.64 (95%CI, 0.60-0.68) in the LGBSG and HGBSG cohorts, respectively. The results of the calibration plots showed that the actual observation and prediction values obtained by the nomogram had good consistency in the LGBSG and HGBSG cohorts.</p><p><strong>Conclusion: </strong>This study identified several independent prognostic variables and further constructed the clinical nomogram model. The nomogram model can provide valuable clinical reference and risk assessments for clinicians to further manage these patients with BSG.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144102089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Full-Endoscopic Spine Surgery : Its Roles and Limitations. 全内窥镜脊柱手术:它的作用和局限性。
IF 1.4 4区 医学
Journal of Korean Neurosurgical Society Pub Date : 2025-05-08 DOI: 10.3340/jkns.2024.0227
Yong Ahn
{"title":"Full-Endoscopic Spine Surgery : Its Roles and Limitations.","authors":"Yong Ahn","doi":"10.3340/jkns.2024.0227","DOIUrl":"https://doi.org/10.3340/jkns.2024.0227","url":null,"abstract":"<p><p>Endoscopic spine surgery is the perfect culmination of the concept of minimally invasive spine surgery. Among the various endoscopic spine procedures, full-endoscopic spine surgery (FESS) is an endoscopic technique characterized by the performance of the entire spinal procedure via the percutaneous approach using a uniportal working-channel endoscope with continuous saline perfusion. FESS effectively decompresses the tissues and allows for instrumentation while preserving the normal musculoskeletal structures. It also has fewer complications and enables quicker return to work. However, potential disadvantages include its steep learning curves and limited indications. Previously, the indications for endoscopic procedures had been limited to soft disc herniations or focal neural impingement, with most degenerative spinal diseases other than disc herniation being considered contraindications. However, owing to the remarkable advancements in endoscopic technology, nearly all degenerative spinal diseases, including spinal stenosis and instability, can currently be treated using FESS. Furthermore, the application of spinal endoscopes has expanded to other spinal disorders, including infections, traumas, and tumors. Unfortunately, the steep learning curve and technical limitations of FESS cannot be overlooked by most standard spine surgeons. To ensure the clinical success of endoscopic procedures in actual clinical practice, a comprehensive understanding of the core properties of working channel endoscopes is necessary to facilitate the learning process. With the ongoing development of endoscopic technology, endoscopic surgery can be expected to become the standard treatment approach for all degenerative spinal diseases in the near future.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144021453","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Constitutional Mismatch Repair Deficiency, the Most Aggressive Cancer Predisposition Syndrome : Clinical Presentation, Surveillance, and Management. 体质错配修复缺陷,最具侵略性的癌症易感性综合征:临床表现,监测和管理。
IF 1.4 4区 医学
Journal of Korean Neurosurgical Society Pub Date : 2025-05-01 Epub Date: 2025-04-29 DOI: 10.3340/jkns.2025.0024
Eungu Kang, Jin Kyung Suh, Sang-Dae Kim
{"title":"Constitutional Mismatch Repair Deficiency, the Most Aggressive Cancer Predisposition Syndrome : Clinical Presentation, Surveillance, and Management.","authors":"Eungu Kang, Jin Kyung Suh, Sang-Dae Kim","doi":"10.3340/jkns.2025.0024","DOIUrl":"https://doi.org/10.3340/jkns.2025.0024","url":null,"abstract":"<p><p>Constitutional mismatch repair deficiency (CMMRD) is a rare and highly aggressive cancer predisposition syndrome caused by biallelic germline mutations in mismatch repair genes. This condition is characterized by early-onset malignancies across multiple organ systems, including central nervous system tumors, hematological cancers, and gastrointestinal malignancies. CMMRD-associated tumors exhibit hypermutation and microsatellite instability, resulting in a high tumor mutation burden and rendering these malignancies responsive to immune checkpoint inhibitors (ICIs). ICIs targeting programmed cell death protein-1 and programmed cell death ligand 1 have demonstrated remarkable efficacy, particularly in hypermutated tumors, providing durable responses and improving survival outcomes. Advances in genetic and molecular diagnostics have enhanced the ability to identify CMMRD early, allowing for the implementation of comprehensive surveillance programs and improved management strategies. A multidisciplinary and individualized approach is essential for managing CMMRD patients. This review underscores the importance of early diagnosis, surveillance, and emerging therapeutic approaches to improve outcomes and quality of life for individuals and families affected by this devastating syndrome.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":"68 3","pages":"294-304"},"PeriodicalIF":1.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12062528/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143996486","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}
引用次数: 0
Rhabdoid Tumor Predisposition Syndrome : A Comprehensive Review of Genetics, Clinical Manifestations, and Management. 横纹肌样肿瘤易感综合征:遗传学、临床表现和管理的综合综述。
IF 1.4 4区 医学
Journal of Korean Neurosurgical Society Pub Date : 2025-05-01 Epub Date: 2025-03-27 DOI: 10.3340/jkns.2025.0014
Taehoon Kim, Ji Hoon Phi
{"title":"Rhabdoid Tumor Predisposition Syndrome : A Comprehensive Review of Genetics, Clinical Manifestations, and Management.","authors":"Taehoon Kim, Ji Hoon Phi","doi":"10.3340/jkns.2025.0014","DOIUrl":"10.3340/jkns.2025.0014","url":null,"abstract":"<p><p>Rhabdoid tumor predisposition syndrome (RTPS) is a rare autosomal dominant disorder characterized by an increased risk of developing malignant rhabdoid tumors in early childhood. This syndrome is primarily caused by germline heterozygous loss-of-function pathogenic variants in the SMARCB1 gene (RTPS1) and rarely in the SMARCA4 gene (RTPS2). RTPS is characterized by the development of atypical teratoid rhabdoid tumors of the central nervous system, malignant rhabdoid tumors of the kidney, and/or extrarenal extracranial rhabdoid tumors. The syndrome demonstrates high penetrance, with most tumors developing before age 3 years, and carries a poor prognosis despite intensive multimodal therapy. Early diagnosis through genetic testing, implementation of surveillance protocols, and aggressive treatment approaches are crucial for improving outcomes. This review comprehensively examines the genetic basis, clinical manifestations, surveillance strategies, and current management approaches for RTPS, with particular emphasis on emerging therapeutic options and the importance of multidisciplinary care.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":"311-320"},"PeriodicalIF":1.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12062526/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143719773","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}
引用次数: 0
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