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Revisiting the Surgical Outcomes of Non-Acute Subdural Hematomas among Retired Military Personnel : A Single Tertiary Hospital Retrospective Analysis in the Philippines. 重新审视退役军人非急性硬膜下血肿的手术疗效:菲律宾一家三甲医院的回顾性分析》(Revisiting the Surgical Outcomes of Non-Acute Subdural Hematomas among Retired Military Personnel : A Single Tertiary Hospital Retrospective Analysis in the Philippines)。
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-07-01 Epub Date: 2024-10-25 DOI: 10.3340/jkns.2024.0099
Leo E Trinidad, Rhoby U Orata

Objective: Subdural hematomas (SDHs) are classified clinically and/or radiologically as acute SDH (ASDH), subacute SDH (SSDH), and chronic SDH (CSDH). The management differ depending on their classification, with only the ASDH having a definite accepted surgical guideline. Non-acute SDH, specifically SSDH and CSDH have no clear surgical guidelines but are managed similarly in some literature. This study was conducted to determine if there is a difference in outcomes among surgically managed non-acute SDH in a specific elderly population of retired military personnel.

Methods: This is a pre-pandemic retrospective study that utilized data obtained from January 2016 to April 2019, in a subspecialty tertiary hospital that caters to retired military personnel or veterans, in the Philippines. After chart review and application of inclusion and exclusion criteria, 21 patients were included, all military retirees, with age 56 years old and above. Chart review and electronic database were retrieved to extract relevant information.

Results: In this study, a term 'mixed-type subdural hematoma' (MSDH) was proposed to encompass SDH that have mixed hypo-andhyperdensity on preoperative computed tomography scan and were subsequently found to have bright red liquefied hematoma instead of the classic engine machinery oil fluid found in a CSDH. Based on the observed cohort, nine out of 11 CSDH patients attained the Glasgow outcome scale extended (GOS-E) score of 8 while all the respondents in the MSDH group attained the same GOS-E score underscoring the need for early intervention in patients with non-acute SDH. Moreover, the outcomes of both MSDH and CSDH are comparable with low mortality rate (approximately 9.5%) and immediate postoperative improvement (approximately 90%).

Conclusion: MSDH and CSDH, although classified separately using clinical and/or radiologic means, can collectively be categorized as a non-acute SDH and can be managed safely and effectively with burr hole surgery.

目的:硬膜下血肿(SDH)在临床和/或放射学上分为急性(ASDH)、亚急性(SSDH)和慢性(CSDH)。根据不同的分类,治疗方法也有所不同,只有 ASDH 有明确的公认手术指南。非急性 SDH,特别是 SSDH 和 CSDH,没有明确的手术指南,但在一些文献中也有类似的处理方法。本研究旨在确定在退役军人这一特殊老年群体中,手术治疗非急性 SDH 的结果是否存在差异:这是一项大流行前的回顾性研究,利用的是菲律宾一家专为退役军人或退伍军人服务的亚专科三级医院在 2016 年 1 月至 2019 年 4 月期间获得的数据。经过病历审查以及纳入和排除标准的应用,21 名患者被纳入研究,他们都是退役军人,年龄在 56 岁及以上。研究人员检索了病历和电子数据库,以提取相关信息:本研究提出了 "混合型硬膜下血肿"(MSDH)一词,以涵盖术前 CT 扫描显示为低密度和高密度混合型的 SDH,随后发现其为鲜红色液化血肿,而非 CSDH 中典型的发动机机油液体。根据观察到的队列,11 名 CSDH 患者中有 9 人的格拉斯哥结果量表扩展版(GOS-E)评分达到 8 分,而 MSDH 组的所有受访者的 GOS-E 评分均为 8 分,这凸显了对非急性硬膜下血肿患者进行早期干预的必要性。此外,MSDH 和 CSDH 的疗效相当,死亡率低(约 9.5%),术后即刻好转(约 90%):结论:尽管 MSDH 和 CSDH 可通过临床和/或放射学手段分别进行分类,但它们都可归类为非急性 SDH,并可通过钻孔手术进行安全有效的处理。
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引用次数: 0
Degradation Pattern of a Biodegradable and Photocurable Sealants Based on Hyaluronic Acid : A Serial Magnetic Resonance Imaging Observational Study in Rat Craniectomy Model. 基于透明质酸的可生物降解光固化密封剂的降解模式:大鼠颅骨切除术模型的一系列磁共振成像观察研究。
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-07-01 Epub Date: 2024-12-03 DOI: 10.3340/jkns.2024.0138
Hyeseon Lee, Sijoon Lee, Seung Yun Yang, Dong Hwan Kim, Mahnjeong Ha, Kyoung Hyup Nam

Objective: The aim of this study is evaluating in vivo degradation of photocrosslinkable hyaluronic acid (HA)-based dural sealant (HA photosealant) using magnetic resonance imaging (MRI) and histopathological analysis to assess its biodegradability and effectiveness in preventing cerebrospinal fluid (CSF) leakage.

Methods: HA photosealants were applied to the incised dura in a rat craniectomy and durotomy. The HA photosealant quickly sealed the wound upon low-energy visible light exposure (405 nm, <5 seconds, < 1 J/cm2). The degradation of HA photosealants was tracked through serial MRI scans at 1, 2, and 4 weeks post-application. The remaining area of HA photosealants on the dura was measured using image processing program for volumetric analysis. Additionally, histopathological analyses were performed to evaluate the biocompatibility and effectiveness of the dural repair.

Results: The MRI and histopathological analyses showed that the HA photosealant achieved progressive degradation while successfully preventing CSF leakage without any adverse tissue reactions. The residual area of HA photosealants measured at 2 weeks ranged from 41.35% to 94.88%, with an average of 66.57%. At 4 weeks, a more distinct degradation pattern was observed compared to 2 weeks, showing a residual area of 10.28% to 56.11%. The HA photosealant maintained structural integrity until dural regeneration was completed.

Conclusion: HA photosealant showed gradual degradation in vivo while maintaining mechanical strength until the dura was repaired for preventing CSF leakage without inflammation and toxicity. HA photosealant has great potentials for clinical application for dural repair with biodegradable properties and biocompatibility.

目的:利用磁共振成像(MRI)和组织病理学分析评估光交联透明质酸(HA)硬膜密封胶(HA光密封胶)的体内降解性,以评估其生物降解性和防止脑脊液(CSF)泄漏的有效性。方法:采用透明质酸光密封剂对大鼠开颅和硬脑膜切开的硬脑膜进行涂敷。HA光密封胶在低能量可见光(405 nm, < 5 s, < 1 J/cm2)照射下快速密封伤口。在应用后1、2和4周,通过连续MRI扫描跟踪HA光密封剂的降解。使用图像处理程序测量硬脑膜上HA光密封剂的剩余面积,进行体积分析。此外,还进行了组织病理学分析,以评估硬脑膜修复的生物相容性和有效性。结果:MRI和组织病理学分析显示,透明质酸光密封剂在成功防止脑脊液泄漏的同时实现了进行性降解,无不良组织反应。2周测定的HA光封剂残留面积范围为41.36% ~ 94.88%,平均为66.57%。第4周时,与第2周相比,观察到更明显的降解模式,残余面积为10.28%至56.12%。HA光密封剂保持结构完整性,直到硬脑膜再生完成。结论:透明质酸光密封胶在体内可逐渐降解并保持机械强度直至硬脑膜修复,可防止脑脊液渗漏,无炎症和毒性。透明质酸光密封胶具有生物可降解性和生物相容性,在硬脑膜修复中具有广阔的应用前景。
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引用次数: 0
Corrigendum to "Von Hippel-Lindau Disease : A Comprehensive Review of Diagnosis, Genetics, Clinical Challenges, and Surveillance" by Jung et al. (J Korean Neurosurg Soc 68 : 338-349, 2025). Jung等人对“Von Hippel-Lindau病:诊断,遗传学,临床挑战和监测的综合回顾”的更正(J Korean neurosurgery Soc 68: 338-349, 2025)。
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-07-01 Epub Date: 2025-06-18 DOI: 10.3340/jkns.2025.0018.e1
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引用次数: 0
Outcomes of Acute Subdural Hematoma in Adults with a Glasgow Coma Scale Score of 3 : An Analysis from Five Regional Trauma Centers. GCS评分为3分的成人急性硬膜下血肿的结局:来自五个区域创伤中心的分析。
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-07-01 Epub Date: 2024-12-24 DOI: 10.3340/jkns.2024.0194
Ji-Na Kim, Ki Seong Eom

Objective: Acute subdural hematoma (A-SDH) in patients with a Glasgow coma scale (GCS) score of 3 presents significant challenges in clinical decision-making owing to high mortality rates and the likelihood of severe disability. Here, we analyzed data to assess the number of surgical treatments and overall treatment outcomes for patients with A-SDH admitted in a comatose state and discussed the value of such aggressive surgical interventions based on these findings.

Methods: A retrospective analysis was conducted using data from five regional trauma centers in Korea registered with the Korean Neurotrauma Data Bank System. This study included adult patients (aged ≥19 years) admitted between January 2018 and June 2021 to a comatose state due to A-SDH. Patients were classified into death and survivor groups based on their outcomes, and their demographic, clinical, and radiological characteristics were compared. Additionally, patients were divided into a combined group of deaths and vegetative state survivors and a group of remaining survivors to compare the differences and assess the impact of death and vegetative state.

Results: Among a total of 109 patients, the mean age was 59.28 years, and the mortality rate was 80.7%. Among the 21 survivors, 12 (57.1%) remained vegetative. Surgical treatment was performed in 42 patients (38.5%), resulting in a lower mortality rate (64.3%) than conservative treatment (91.0%). However, the rate of the vegetative state was higher in the surgical group (21.4%) than in the conservative group (4.5%). Pupil reactivity was a significant predictor, with mortality rates of 44.4%, 57.1 %, and 85.9% for reactive, unilaterally unreactive, and bilaterally unreactive pupils, respectively. The surgical group had a significantly longer hospital stay (23.69±29.15 days) compared to the conservative group (6.45±13.75 days).

Conclusion: It is time to go one step further from death with the dignity law and have a comprehensive consideration and social consensus on 'how to end life.' A model that can more accurately predict situations in which decompressive surgery should be considered for patients in a comatose state due to A-SDH is required. Neurosurgeons must have a comprehensive understanding of the patient's progress, the anticipated prognosis, and the various financial and psychological burdens on the family and must be able to communicate this information thoroughly.

目的:急性硬膜下血肿(a - sdh)在格拉斯哥昏迷量表(GCS)评分为3分的患者中,由于高死亡率和严重残疾的可能性,对临床决策提出了重大挑战。在这里,我们分析了数据,以评估昏迷状态下a - sdh患者的手术治疗次数和总体治疗结果,并根据这些发现讨论了这种积极的手术干预的价值。方法:回顾性分析在韩国神经创伤数据库系统中注册的韩国五个区域创伤中心的数据。该研究纳入了2018年1月至2021年6月期间因a - sdh而进入昏迷状态的成年患者(年龄≥19岁)。根据患者的预后将其分为死亡组和幸存者组,并比较其人口学、临床和放射学特征。此外,将患者分为死亡和植物状态幸存者联合组和剩余幸存者组,以比较差异并评估死亡和植物状态的影响。结果109例患者,平均年龄59.28岁,病死率80.7%。在21例幸存者中,12例(57.1%)仍然是植物人。手术治疗42例(38.5%),死亡率(64.3%)低于保守治疗(91.0%)。然而,植物状态的发生率在手术组(21.4%)高于保守组(4.5%)。瞳孔反应性是一个重要的预测因素,反应性、单侧无反应性和双侧无反应性瞳孔的死亡率分别为44.4%、57.1%和85.9%。手术组住院时间(23.69±29.15天)明显长于保守组(6.45±13.75天)。结论:是时候让尊严法离死亡更进一步,对“如何结束生命”有一个全面的思考和社会共识。需要一个能够更准确地预测A- sdh致昏迷患者是否需要进行减压手术的模型。神经外科医生必须全面了解病人的病情进展、预期预后以及家庭的各种经济和心理负担,并且必须能够彻底地传达这些信息。
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引用次数: 0
Deep brain Stimulation Generator Replacement Surgeries : Safety and Efficacy of PEAK Plasmablade TMX and Analysis of Wound Healing Complications. 脑深部刺激发生器置换手术:PEAK等离子片TMX的安全性、有效性及伤口愈合并发症分析。
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-07-01 Epub Date: 2025-04-04 DOI: 10.3340/jkns.2024.0133
Seung Woo Hong, So Hee Park, Dao Duy Phuong, Kyung Won Chang, Hyun Ho Jung, Jin Woo Chang

Objective: This study aimed to assess the safety and efficacy of using the PEAK Plasmablade TMX (PBX) in deep brain stimulation (DBS) of implantable pulse generator (IPG) replacement surgeries, alongside identifying potential risk factors for postoperative complications.

Methods: A prospective study was conducted on 50 patients undergoing IPG replacement with PBX, compared to 150 historical controls. Demographic data, surgical characteristics, and postoperative outcomes were analyzed. Logistic regression was used to identify predictors of surgical complications.

Results: The demographic and clinical profiles of patients in the PBX group were comparable to those in the control group. PBX significantly reduced surgical duration (p=0.005) and did not result in impedance abnormalities. While wound complications did not significantly differ between groups, logistic regression identified diabetes as a significant predictor of wound dehiscence or delayed healing (p=0.012).

Conclusion: The findings support the safety and efficacy of PBX in DBS IPG replacement surgeries, offering advantages such as reduced surgical duration and minimized risk of impedance abnormalities. However, diabetes emerged as a significant predictor of adverse wound outcomes, highlighting the need for tailored preoperative assessment and management strategies.

研究目的本研究旨在评估在植入式脉冲发生器(IPG)置换手术的脑深部刺激(DBS)中使用 PEAK Plasmablade TMX(PBX)的安全性和有效性,同时确定术后并发症的潜在风险因素:对 50 名接受 PBX 植入式脉冲发生器置换术的患者和 150 名历史对照组患者进行了前瞻性研究。对人口统计学数据、手术特征和术后结果进行了分析。采用逻辑回归法确定手术并发症的预测因素:结果:PBX 组患者的人口统计学和临床特征与对照组相当。PBX 明显缩短了手术时间(p=0.005),并且不会导致阻抗异常。虽然各组之间的伤口并发症没有明显差异,但逻辑回归发现糖尿病是伤口开裂或延迟愈合的重要预测因素(p=0.012):研究结果支持 PBX 在 DBS IPG 置换手术中的安全性和有效性,它具有缩短手术时间和最大限度降低阻抗异常风险等优点。然而,糖尿病成为不良伤口预后的一个重要预测因素,这凸显了量身定制术前评估和管理策略的必要性。
{"title":"Deep brain Stimulation Generator Replacement Surgeries : Safety and Efficacy of PEAK Plasmablade TMX and Analysis of Wound Healing Complications.","authors":"Seung Woo Hong, So Hee Park, Dao Duy Phuong, Kyung Won Chang, Hyun Ho Jung, Jin Woo Chang","doi":"10.3340/jkns.2024.0133","DOIUrl":"10.3340/jkns.2024.0133","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to assess the safety and efficacy of using the PEAK Plasmablade TMX (PBX) in deep brain stimulation (DBS) of implantable pulse generator (IPG) replacement surgeries, alongside identifying potential risk factors for postoperative complications.</p><p><strong>Methods: </strong>A prospective study was conducted on 50 patients undergoing IPG replacement with PBX, compared to 150 historical controls. Demographic data, surgical characteristics, and postoperative outcomes were analyzed. Logistic regression was used to identify predictors of surgical complications.</p><p><strong>Results: </strong>The demographic and clinical profiles of patients in the PBX group were comparable to those in the control group. PBX significantly reduced surgical duration (p=0.005) and did not result in impedance abnormalities. While wound complications did not significantly differ between groups, logistic regression identified diabetes as a significant predictor of wound dehiscence or delayed healing (p=0.012).</p><p><strong>Conclusion: </strong>The findings support the safety and efficacy of PBX in DBS IPG replacement surgeries, offering advantages such as reduced surgical duration and minimized risk of impedance abnormalities. However, diabetes emerged as a significant predictor of adverse wound outcomes, highlighting the need for tailored preoperative assessment and management strategies.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":"473-479"},"PeriodicalIF":1.4,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12241805/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143779944","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
Editors' Pick in July 2025. 2025年7月的编辑选择。
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-06-16 DOI: 10.3340/jkns.2025.0121
Hee-Jin Yang
{"title":"Editors' Pick in July 2025.","authors":"Hee-Jin Yang","doi":"10.3340/jkns.2025.0121","DOIUrl":"https://doi.org/10.3340/jkns.2025.0121","url":null,"abstract":"","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":" ","pages":""},"PeriodicalIF":1.4,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144302293","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 Q4 CLINICAL NEUROLOGY Pub Date : 2025-05-01 Epub Date: 2025-04-29 DOI: 10.3340/jkns.2025.0024
Eungu Kang, Jin Kyung Suh, Sang-Dae Kim

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.

体质错配修复缺陷(CMMRD)是一种罕见的高侵袭性癌症易感性综合征,由错配修复基因的双等位基因突变引起。这种疾病的特点是多器官系统的早发性恶性肿瘤,包括中枢神经系统肿瘤、血液系统肿瘤和胃肠道恶性肿瘤。cmmrd相关肿瘤表现出高突变和微卫星不稳定性,导致高肿瘤突变负担,并使这些恶性肿瘤对免疫检查点抑制剂(ICIs)有反应。靶向程序性细胞死亡蛋白-1和程序性细胞死亡配体1的ICIs已显示出显著的疗效,特别是在超突变肿瘤中,提供持久的反应并改善生存结果。遗传和分子诊断的进步提高了早期识别CMMRD的能力,从而允许实施全面的监测计划和改进的管理策略。多学科和个性化的方法是必不可少的管理CMMRD患者。本综述强调了早期诊断、监测和新兴治疗方法的重要性,以改善受这种破坏性综合征影响的个人和家庭的预后和生活质量。
{"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 Q4 CLINICAL NEUROLOGY Pub Date : 2025-05-01 Epub Date: 2025-03-27 DOI: 10.3340/jkns.2025.0014
Taehoon Kim, Ji Hoon Phi

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.

横纹肌样肿瘤易感综合征(RTPS)是一种罕见的常染色体显性遗传病,其特征是儿童早期发生恶性横纹肌样肿瘤的风险增加。该综合征主要由SMARCB1基因(RTPS1)的种系杂合性功能丧失致病性变异引起,而SMARCA4基因(RTPS2)很少发生。RTPS的特点是发生中枢神经系统不典型畸胎瘤样横纹肌样肿瘤(ATRT)、肾恶性横纹肌样肿瘤(RTK)和/或肾外颅外横纹肌样肿瘤(EERT)。该综合征表现出高外显率,大多数肿瘤在3岁之前发生,尽管进行了强化的多模式治疗,但预后较差。通过基因检测进行早期诊断、实施监测方案和积极的治疗方法对于改善结果至关重要。这篇综述全面检查了RTPS的遗传基础、临床表现、监测策略和当前的管理方法,特别强调了新兴的治疗选择和多学科治疗的重要性。
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引用次数: 0
Li-Fraumeni Syndrome : Current Strategies and Future Perspectives. Li-Fraumeni综合征:当前策略和未来展望。
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-05-01 Epub Date: 2025-04-29 DOI: 10.3340/jkns.2025.0050
Ji Won Lee

Li-Fraumeni syndrome (LFS) is a rare inherited cancer predisposition syndrome caused by germline mutations in the TP53 tumor suppressor gene. It predisposes affected individuals to a wide spectrum of early-onset malignancies, including sarcomas, breast cancer, brain tumors, and adrenocortical carcinoma. Advances in genetic testing and risk management strategies have enhanced the identification and clinical management of LFS patients. Comprehensive surveillance has demonstrated increased survival rates through proactive screening. Beyond surveillance, research is exploring novel approaches such as liquid biopsy for early cancer detection and chemoprevention strategies, including metformin trials, to mitigate cancer risk. This review discusses the molecular basis, clinical spectrum, surveillance strategies, and emerging research in LFS.

Li-Fraumeni综合征(LFS)是一种罕见的遗传性癌症易感性综合征,由肿瘤抑制基因TP53的种系突变引起。它使受影响的个体易患各种早发性恶性肿瘤,包括肉瘤、乳腺癌、脑肿瘤和肾上腺皮质癌。基因检测和风险管理策略的进步加强了LFS患者的识别和临床管理。综合监测表明,通过主动筛查,生存率有所提高。除了监测之外,研究还在探索新的方法,如用于早期癌症检测的液体活检和化学预防策略,包括二甲双胍试验,以降低癌症风险。本文综述了LFS的分子基础、临床谱、监测策略和新兴研究。
{"title":"Li-Fraumeni Syndrome : Current Strategies and Future Perspectives.","authors":"Ji Won Lee","doi":"10.3340/jkns.2025.0050","DOIUrl":"https://doi.org/10.3340/jkns.2025.0050","url":null,"abstract":"<p><p>Li-Fraumeni syndrome (LFS) is a rare inherited cancer predisposition syndrome caused by germline mutations in the TP53 tumor suppressor gene. It predisposes affected individuals to a wide spectrum of early-onset malignancies, including sarcomas, breast cancer, brain tumors, and adrenocortical carcinoma. Advances in genetic testing and risk management strategies have enhanced the identification and clinical management of LFS patients. Comprehensive surveillance has demonstrated increased survival rates through proactive screening. Beyond surveillance, research is exploring novel approaches such as liquid biopsy for early cancer detection and chemoprevention strategies, including metformin trials, to mitigate cancer risk. This review discusses the molecular basis, clinical spectrum, surveillance strategies, and emerging research in LFS.</p>","PeriodicalId":16283,"journal":{"name":"Journal of Korean Neurosurgical Society","volume":"68 3","pages":"305-310"},"PeriodicalIF":1.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12062525/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144015433","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
Treatment of Plexiform Neurofibromas : Current Perspectives on Surgery and Medical Treatment. 丛状神经纤维瘤的治疗:外科和内科治疗的最新进展。
IF 1.4 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-05-01 Epub Date: 2025-04-30 DOI: 10.3340/jkns.2025.0041
Jun Kyu Hwang, Se Hoon Kim, Dong-Seok Kim

Plexiform neurofibromas (PNFs), a critical clinical feature of neurofibromatosis type 1, mainly involve several peripheral nerve branches and extend widely, including the skin and bones and the internal organs. Determining the appropriate treatment is difficult. Additionally, they possess the potential to develop into malignant peripheral nerve sheath tumors (MPNSTs), which are linked to an extremely poor prognosis. Active treatment is critical in patients with symptoms or progressive tumor growth, especially in pediatric cases. Surgery remains the standard treatment for managing PNFs and MPNSTs; however, it has often demonstrated insufficient results because of its wide distribution and the frequent involvement of major organs. Selumetinib, a recently approved mitogen-activated protein kinase kinase inhibitor, is gaining traction in treating inoperable PNFs in children.

丛状神经纤维瘤(Plexiform neurofibromas, PNFs)是1型神经纤维瘤病的一个重要临床特征,主要累及多个周围神经分支,并广泛扩展,包括皮肤、骨骼和内脏器官。确定适当的治疗方法是困难的。此外,它们具有发展成恶性周围神经鞘肿瘤(MPNSTs)的潜力,这与预后极差有关。对于有症状或肿瘤进展性生长的患者,尤其是儿科患者,积极治疗至关重要。手术仍然是治疗pnf和mpnst的标准治疗方法;然而,由于其广泛分布和经常涉及主要器官,它往往显示出不足的效果。Selumetinib是最近批准的一种丝裂原活化蛋白激酶抑制剂,在治疗儿童不能手术的pnf方面获得了越来越多的关注。
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引用次数: 0
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Journal of Korean Neurosurgical Society
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