acoustic neuroma

听神经瘤
  • 文章类型: Journal Article
    目的:谷氨酸化学交换饱和转移(GluCEST)是一种用于检测组织中谷氨酸水平的非侵入性CEST成像技术。我们旨在研究5TGluCEST技术在健康志愿者中的可重复性,并初步探索其在脑肿瘤患者中的潜在临床应用。
    方法:10名志愿者(4名男性,平均年龄29岁)接受了三次5TGluCEST成像扫描。使用单向重复测量方差分析(ANOVA)评估三种成像GluCEST测量的可重复性,广义估计方程,和线性混合模型。28例脑肿瘤患者(10例男性,平均年龄54岁)术前接受一次GluCEST扫描,和t检验用于比较不同脑肿瘤之间GluCEST值的差异。此外,使用受试者工作特征(ROC)曲线评估GluCEST值在区分脑肿瘤中的诊断准确性.
    结果:健康志愿者的GluCEST值的变异系数在一天内小于5%,跨日,和受试者内,低于10%的受试者之间。高级别胶质瘤(HGG)的GluCEST值高于低级别胶质瘤(LGG)(P<0.001)。此外,桥小脑角(CPA)脑膜瘤的GluCEST值高于听神经瘤(P<0.001)。用于区分CPA脑膜瘤和听神经瘤的GluCEST值的曲线下面积(AUC)为0.93。
    结论:5TGluCEST图像在健康大脑中具有很高的可重复性。此外,5TGluCEST技术在区分LGG和HGG以及CPA脑膜瘤和听神经瘤方面具有潜在的临床应用价值。
    OBJECTIVE: Glutamate chemical exchange saturation transfer (GluCEST) is a non-invasive CEST imaging technique for detecting glutamate levels in tissues. We aimed to investigate the reproducibility of the 5T GluCEST technique in healthy volunteers and preliminarily explore its potential clinical application in patients with brain tumors.
    METHODS: Ten volunteers (4 males, mean age 29 years) underwent three 5T GluCEST imaging scans. The reproducibility of the three imaging GluCEST measurements was assessed using one-way repeated measures analysis of variance (ANOVA), generalized estimating equations, and linear mixed models. Twenty-eight patients with brain tumors (10 males, mean age 54 years) underwent a single GluCEST scan preoperatively, and t-tests were used to compare the differences in GluCEST values between different brain tumors. In addition, the diagnostic accuracy of GluCEST values in differentiating brain tumors was assessed using the receiver work characteristics (ROC) curve.
    RESULTS: The coefficients of variation of GluCEST values in healthy volunteers were less than 5% for intra-day, inter-day, and within-subjects and less than 10% for between-subjects. High-grade gliomas (HGG) had higher GluCEST values compared to low-grade gliomas (LGG) (P < 0.001). In addition, cerebellopontine angle (CPA) meningiomas had higher GluCEST values than acoustic neuromas (P < 0.001). The area under the curve (AUC) of the GluCEST value for differentiating CPA meningioma from acoustic neuroma was 0.93.
    CONCLUSIONS: 5T GluCEST images are highly reproducible in healthy brains. In addition, the 5T GluCEST technique has potential clinical applications in differentiating LGG from HGG and CPA meningiomas from acoustic neuromas.
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  • 文章类型: Journal Article
    目的:研究表明,在大前庭神经鞘瘤(VS)中,与显微外科手术切除(SURGERY)相比,放射外科(SRS)在肿瘤控制方面较差。然而,外科手术导致面部功能恶化(FFD)的风险显着增加。这项研究的目的是说明需要治疗/手术(NNO)的有效性,伤害所需数量(NNH),通过比较大VS中的两种治疗方式,以及伤害/帮助的可能性(LHH)。
    方法:这是一个回顾性研究,双中心队列研究。肿瘤大小按汉诺威分类法分类。绝对风险降低和风险增加用于得出治疗有效性的额外估计,即NNO和NNH。然后通过NNH/NNO的商计算LHH,以说明外科手术的风险-收益比。
    结果:接受治疗的49名患者符合纳入标准。SRS中肿瘤复发率明显较高(14%),与外科手术(3%)相比,ARR为11%,NNO为10。同时,手术与FFD的显著风险相关,导致NNH为12。总的来说,计算为1.20的LHH是赞成手术,特别是在40岁以下的患者中(LHH=2.40),囊性VS(LHH=4.33),汉诺威T3a(LHH=1.83)和T3b(LHH=1.80)。
    结论:由于大VS对SRS的响应较差,手术优于肿瘤控制。一次肿瘤复发是可以预防的,当10例患者接受外科手术而不是SRS治疗时。因此,即使考虑到提高FFD,LHH也描绘了大型VS中外科手术的好处。
    OBJECTIVE: It has been shown that in large vestibular schwannomas (VS), radiosurgery (SRS) is inferior with respect to tumor control compared to microsurgical resection (SURGERY). However, SURGERY poses a significantly higher risk of facial-function deterioration (FFD). The aim of this study was to illustrate the effectiveness in terms of number-needed-to-treat/operate (NNO), number-needed-to-harm (NNH), and likelihood-of-harm/help (LHH) by comparing both treatment modalities in large VS.
    METHODS: This was a retrospective, dual-center cohort study. Tumor size was classified by Hannover Classification. Absolute risk reduction and risk increase were used to derive additional estimates of treatment effectiveness, namely NNO and NNH. LHH was then calculated by a quotient of NNH/NNO to illustrate the risk-benefit-ratio of SURGERY.
    RESULTS: Four hundred and forty-nine patients treated met the inclusion criteria. The incidence of tumor recurrence was significantly higher in SRS (14%), compared to SURGERY (3%) resulting in ARR of 11% and NNO of 10. At the same time, SURGERY was related to a significant risk of FFD resulting in an NNH of 12. Overall, the LHH calculated at 1.20 was favored SURGERY, especially in patients under the age of 40 years (LHH = 2.40), cystic VS (LHH = 4.33), and Hannover T3a (LHH = 1.83) and T3b (LHH = 1.80).
    CONCLUSIONS: Due to a poorer response of large VS to SRS, SURGERY is superior with respect to tumor control. One tumor recurrence can be prevented, when 10 patients are treated by SURGERY instead of SRS. Thus, LHH portrays the benefit of SURGERY in large VS even when taking raised FFD into account.
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  • 文章类型: Journal Article
    目的:显微外科技术和技术的进步继续改善颅底肿瘤患者的预后。用于前庭神经鞘瘤(VSs)的听力保留手术的主要颅神经八监测系统是直接颅神经八监测(DCNEM)和听觉脑干反应(ABR),尽管由于有关该主题的文献有限,目前的指南无法明确推荐其中一项。因此,需要进一步的研究来确定DCNEM和ABR的实用性。作者进行了一项回顾性队列研究,并创建了一个交互式模型,该模型根据接受ABRDCNEM和仅接受ABR监测的患者的肿瘤大小比较了听力保留结果。
    方法:2008年1月至2022年11月期间,有28名患者接受ABR+DCNEM,72名患者在VS听力保留手术期间接受了仅ABR监测。纳入标准包括术前美国耳鼻咽喉头颈外科学会(AAO-HNS)听力分类为A或B的成年患者。测量肿瘤大小为最大内侧到外侧长度,包括内耳道组件。
    结果:31例仅ABR监测患者(43.1%)和18例ABRDCNEM患者(64.3%)实现了总体听力保留(单词识别评分[WRS]>0%)。在仅进行ABR监测的19例患者(26.4%)和ABRDCNEM的11例患者(39.3%)中,实现了有效的听力保留(AAO-HNSA级或B级)。两组之间的总体听力保留没有差异(p=0.13)。肿瘤大小的变化与仅ABR组的有效听力保留的几率无关(p=0.89);然而,对于ABR+DCNEM,有一些迹象表明肿瘤大小与ABR+DCNEM和仅ABR监测的相关性之间存在相互作用,有效的听力保留的可能性为p=0.089。此外,ABR+DCNEM,在多变量分析中,肿瘤大小每增加0.5-cm与听力保留有效的几率降低相关(p=0.05).对于整体和有用的听力保护,术前AAO-HNS分类较差与保存几率降低相关(OR分别为0.43,95%CI0.19~0.97,p=0.042;OR0.17,95%CI0.053~0.55,p=0.0031).
    结论:这项交互式模型研究的结果表明,对于较小的肿瘤,使用ABR+DCNEM而不是单独使用ABR时,听力保留的机会可能更高,随着肿瘤大小的增加,这种关系会逆转。
    OBJECTIVE: Advancements in microsurgical technique and technology continue to improve outcomes in patients with skull base tumor. The primary cranial nerve eight monitoring systems used in hearing preservation surgery for vestibular schwannomas (VSs) are direct cranial nerve eight monitoring (DCNEM) and auditory brainstem response (ABR), although current guidelines are unable to definitively recommend one over the other due to limited literature on the topic. Thus, further research is needed to determine the utility of DCNEM and ABR. The authors performed a retrospective cohort study and created an interactive model that compares hearing preservation outcomes based on tumor size in patients receiving ABR+DCNEM and ABR-only monitoring.
    METHODS: Twenty-eight patients received ABR+DCNEM and 72 patients received ABR-only monitoring during VS hearing preservation surgery at a single tertiary academic medical center between January 2008 and November 2022. Inclusion criteria consisted of adult patients with a preoperative American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) hearing classification of A or B. Tumor size was measured as the maximal medial to lateral length, including the internal auditory canal component.
    RESULTS: Overall hearing preservation (word recognition score [WRS] > 0%) was achieved in 31 patients with ABR-only monitoring (43.1%) and in 18 patients with ABR+DCNEM (64.3%). Serviceable hearing preservation (AAO-HNS class A or B) was attained in 19 patients with ABR-only monitoring (26.4%) and in 11 patients with ABR+DCNEM (39.3%). There was no difference in overall hearing preservation between the two groups (p = 0.13). Change in tumor size was not associated with the odds of serviceable hearing preservation for the ABR-only group (p = 0.89); however, for ABR+DCNEM, there was some indication of an interaction between tumor size and the association of ABR+DCNEM versus ABR-only monitoring, with the odds of serviceable hearing preservation at p = 0.089. Furthermore, with ABR+DCNEM, every 0.5-cm increase in tumor size was associated with a decreased odds of serviceable hearing preservation on multivariable analysis (p = 0.05). For both overall and serviceable hearing preservation, a worse preoperative AAO-HNS classification was associated with a decreased odds of preservation (OR 0.43, 95% CI 0.19-0.97, p = 0.042; OR 0.17, 95% CI 0.053-0.55, p = 0.0031, respectively).
    CONCLUSIONS: The result of this interactive model study proposes that there may be a higher chance of hearing preservation when using ABR+DCNEM rather than ABR alone for smaller tumors, with that relationship reversing as tumor size increases.
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  • 文章类型: Journal Article
    背景:前庭神经鞘瘤(VS),也被称为听神经瘤,是良性的,封装良好,来自雪旺氏细胞的缓慢生长的肿瘤,在前庭耳蜗神经(VIII脑神经)周围形成髓鞘。这种情况的手术治疗对外科医生来说是一项具有挑战性的任务,因为肿瘤的位置和大小使其难以在不对周围结构造成损害的情况下移除。近年来,荧光素钠(FS)已被提议作为增强VS手术结果的工具。本文将对FS在VS手术中的使用进行分析比较,评估其益处和局限性,并比较有无FS辅助手术的手术结果。
    方法:在圣菲利波内里医院进行的一项回顾性研究中,我们检查了在2017年1月至2023年12月期间手术的VS病例.将患者分为两组:A组,其中包括在2020年1月之前未使用FS进行手术的患者(102例),B组,其中包括2020年1月后接受FS手术的患者(55例)。所有手术均采用乙状窦后入路,肿瘤大小是根据库斯分类的,etal.分类系统。使用术中外科医生的意见和术后MRI成像评估手术切除的程度。术前和术后,评估面神经功能和听力。B组,FS用于辅助外科手术,这是使用配备了集成荧光过滤器的外科显微镜进行的。术后6个月和每年进行临床和MRI对照,没有患者失去随访。
    结果:本研究调查了VS患者术中荧光素暴露对肿瘤切除和临床结局的影响。该研究发现,术中接受荧光素治疗的患者之间的肿瘤切除率存在统计学上的显着差异(p=0.037)。使用Koos分类系统的进一步分析揭示了荧光素暴露的显着影响,特别是在Koos3亚组(p=0.001)。值得注意的是,两组在听力损失或面神经功能方面无显著差异。Spearman相关分析显示肿瘤大小与Koos呈正相关,年龄,和大小,但是面神经功能检查之间没有发现显着相关性。
    结论:FS辅助VS手术可能会增强肿瘤切除,允许更全面的肿瘤切除。
    BACKGROUND: Vestibular schwannoma (VS), also known as acoustic neuroma, is a benign, well-encapsulated, and slow-growing tumor that originates from Schwann cells, which form the myelin sheath around the vestibulocochlear nerve (VIII cranial nerve). The surgical treatment of this condition presents a challenging task for surgeons, as the tumor\'s location and size make it difficult to remove without causing damage to the surrounding structures. In recent years, fluorescein sodium (FS) has been proposed as a tool to enhance surgical outcomes in VS surgery. This essay will provide an analytical comparison of the use of FS in VS surgery, evaluating its benefits and limitations and comparing surgical outcomes with and without FS-assisted surgery.
    METHODS: In a retrospective study conducted at San Filippo Neri Hospital, we examined VS cases that were operated on between January 2017 and December 2023. The patients were divided into two groups: group A, which consisted of patients who underwent surgery without the use of FS until January 2020 (102 cases), and group B, which included patients who underwent surgery with FS after January 2020 (55 cases). All operations were performed using the retrosigmoid approach, and tumor size was classified according to the Koos, et al. classification system. The extent of surgical removal was evaluated using both the intraoperative surgeon\'s opinion and postoperative MRI imaging. Preoperatively and postoperatively, facial nerve function and hearing were assessed. In group B, FS was used to assist the surgical procedures, which were performed using a surgical microscope equipped with an integrated fluorescein filter. Postoperative clinical and MRI controls were performed at six months and annually, with no patients lost to follow-up.
    RESULTS: This study investigated the impact of intraoperative fluorescein exposure on tumor resection and clinical outcomes in patients with VS. The study found a statistically significant difference in the tumor resection rates between patients who received fluorescein intraoperatively (p = 0.037). Further analyses using the Koos classification system revealed a significant effect of fluorescein exposure, particularly in the Koos 3 subgroup (p = 0.001). Notably, no significant differences were observed in hearing loss or facial nerve function between the two groups. A Spearman correlation analysis revealed a positive correlation between tumor size and Koos, age, and size, but no significant correlation was found between facial nerve function tests.
    CONCLUSIONS: FS-assisted surgery for VS may potentially enhance tumor resection, allowing for more comprehensive tumor removal.
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  • 文章类型: Journal Article
    一些前庭神经鞘瘤(VS)表现为囊性形态。众所周知,与手术治疗中的实体VS相比,这些囊性VS具有不同的风险特征。尽管如此,目前还没有一项直接的比较研究比较SRS和SURGERY在囊性VS中的有效性.这项回顾性双中心队列研究旨在分析在显微外科(SURGERY)和立体定向放射外科(SRS)的双中心研究中,囊性VS与实体VS的治疗。囊性形态定义为在介入前MRI中存在任何大小的T2高强度和钆对比剂阴性囊肿。通过确定匹配的SURGERY处理的固体VS和SRS处理的固体VS的亚组进行匹配的亚组分析。功能状态,然后比较介入后肿瘤体积大小。从2005年到2011年,在两个研究地点都接受了N=901例原发性和孤立性VS患者的治疗。其中,6%为囊性形态。囊性VS的发生率随肿瘤大小而增加:KoosI中的1.75%,KoosII中的4.07%,KoosIII中的4.84%,KoosIV发病率最高,为15.43%。与实体VS相比,囊性VS的分流依赖性明显更高(p=0.024),与实体VS相比,囊性VS患者的Charlson合并症指数(CCI)明显更差(p<0.001)。囊性VS的GTR率为87%,因此显着降低,与固体VS中的96%相比(p=0.037)。与匹配的实体VS相比,SRS后动态体积变化(减少和增加)的发生率在囊性VS中明显更常见(p=0.042)。囊性VS中SRS的肿瘤进展发生率为25%。当比较外科治疗的囊性与实性VS中的EOR时,GTR的肿瘤复发率为4%,显著低于STR的50%(p=0.042).囊性VS中的肿瘤控制优于外科手术,当高度切除级别治疗时,与SRS相比。与实性VS相比,囊性SRS的治疗反应较差。然而,当通过手术治疗囊性VS时,GTR的比率低于整体,和坚实的VS队列。在囊性VS中,患有相关术后面神经麻痹的患者人数显着增加,而不是唯一的囊性形态。囊性VS应在专门中心进行手术治疗。
    Some vestibular schwannoma (VS) show cystic morphology. It is known that these cystic VS bear different risk profiles compared to solid VS in surgical treatment. Still, there has not been a direct comparative study comparing both SRS and SURGERY effectiveness in cystic VS. This retrospective bi-center cohort study aims to analyze the management of cystic VS compared to solid VS in a dual center study with both microsurgery (SURGERY) and stereotactic radiosurgery (SRS). Cystic morphology was defined as presence of any T2-hyperintense and Gadolinium-contrast-negative cyst of any size in the pre-interventional MRI. A matched subgroup analysis was carried out by determining a subgroup of matched SURGERY-treated solid VS and SRS-treated solid VS. Functional status, and post-interventional tumor volume size was then compared. From 2005 to 2011, N = 901 patients with primary and solitary VS were treated in both study sites. Of these, 6% showed cystic morphology. The incidence of cystic VS increased with tumor size: 1.75% in Koos I, 4.07% in Koos II, 4.84% in Koos III, and the highest incidence with 15.43% in Koos IV. Shunt-Dependency was significantly more often in cystic VS compared to solid VS (p = 0.024) and patients with cystic VS presented with significantly worse Charlson Comorbidity Index (CCI) compared to solid VS (p < 0.001). The rate of GTR was 87% in cystic VS and therefore significantly lower, compared to 96% in solid VS (p = 0.037). The incidence of dynamic volume change (decrease and increase) after SRS was significantly more common in cystic VS compared to the matched solid VS (p = 0.042). The incidence of tumor progression with SRS in cystic VS was 25%. When comparing EOR in the SURGERY-treated cystic to solid VS, the rate for tumor recurrence was significantly lower in GTR with 4% compared to STR with 50% (p = 0.042). Tumor control in cystic VS is superior in SURGERY, when treated with a high extent of resection grade, compared to SRS. Therapeutic response of SRS was worse in cystic compared to solid VS. However, when cystic VS was treated surgically, the rate of GTR is lower compared to the overall, and solid VS cohort. The significantly higher number of patients with relevant post-operative facial palsy in cystic VS is accredited to the increased tumor size not its sole cystic morphology. Cystic VS should be surgically treated in specialized centers.
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  • 文章类型: Journal Article
    背景:前庭神经鞘瘤——起源于前庭神经的良性肿瘤——在怀孕期间很少见。妊娠子宫之间错综复杂的相互作用,母体生理学和肿瘤生长带来了复杂性,需要谨慎和量身定制的方法。
    方法:本文报道一例30岁的孕妇被诊断患有脑干受压的大型前庭神经鞘瘤,妊娠36+5周时瘤周水肿和颅神经包裹。一个多学科团队合作制定了一个治疗计划,考虑到胎儿健康和迫切需要干预之间的微妙平衡。保守的方法涉及密切监测,皮质类固醇治疗以管理瘤周水肿,最初采用了详细的胎儿评估。当病人接近足月时,精心策划的剖腹产,随后成功开颅手术切除前庭神经鞘瘤。母亲和新生儿术后均表现出良好的结局。此外,本研究对妊娠期前庭神经鞘瘤病例进行了文献综述,以提供最佳治疗策略并加深对这一复杂情况的理解.
    结论:该病例突出了孕妇前庭神经鞘瘤治疗的复杂性,强调了量身定做的重要性,协作方式。该条件已成功解决,强调及时诊断的重要性,在这些罕见而复杂的病例中,精心的计划和以患者为中心的方法。
    BACKGROUND: Vestibular schwannomas - benign tumours originating from the vestibular nerve - are rare during pregnancy. The intricate interplay between the gravid uterus, maternal physiology and neoplastic growth imposes complexities that demand a careful and tailored approach.
    METHODS: This article reports a case of a pregnant woman in her 30 s diagnosed with a large vestibular schwannoma exhibiting brainstem compression, peritumoral oedema and cranial nerve encasement at 36 + 5 weeks of gestation. A multi-disciplinary team collaborated to devise a treatment plan considering the delicate balance between fetal well-being and the urgent need for intervention. A conservative approach involving close monitoring, corticosteroid therapy to manage peritumoral oedema, and detailed fetal assessments was initially employed. As the patient neared full term, a carefully planned caesarean section was performed, followed by a successful craniotomy to resect the vestibular schwannoma. Both the mother and the newborn showed favourable outcomes postoperatively. In addition, a literature review of cases of vestibular schwannoma in pregnancy was undertaken to inform optimal management strategies and enhance understanding of this complex scenario.
    CONCLUSIONS: This case highlights the complexity of managing vestibular schwannomas in pregnant women, and underscores the importance of a tailored, collaborative approach. The condition was resolved successfully, emphasizing the significance of timely diagnosis, meticulous planning and a patient-centred approach in these rare and intricate cases.
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  • 文章类型: Systematic Review
    本系统综述的目的是分析听力保留手术对前庭神经鞘瘤的作用。研究了单一手术技术的并发症和听力结果,并将其与微创策略的并发症和听力结果进行了比较。如立体定向放射治疗和等待和扫描策略。本系统评价和荟萃分析是根据PRISMA指南进行的。所有纳入的研究均在2000年至2022年间以英文发表。文献数据表明,手术后不到25%的患者和立体定向放疗后大约一半的患者实现了听力保护,即使目前没有长期保存的数据。
    The aim of this systematic review is to analyse the role of hearing preservation surgery for vestibular schwannoma. The complications and hearing outcomes of the single surgical techniques were investigated and compared with those of less invasive strategies, such as stereotactic radiotherapy and wait and scan policy. This systematic review and meta-analysis was performed according to the PRISMA guidelines. All included studies were published in English between 2000 and 2022. Literature data show that hearing preservation is achieved in less than 25% of patients after surgery and in approximately half of cases after stereotactic radiotherapy, even if data on long-term preservation are currently not available.
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  • 文章类型: Case Reports
    前庭神经鞘瘤(VSs)是最常见的桥小脑肿瘤。较小尺寸VS(<30毫米)的自然历史已经得到了充分的研究,导致了“观察和等待”方法的建议。然而,大型VSs(>30毫米)尚未得到广泛研究,主要是因为它们的稀有性。因此,大多数患者接受常规手术,这具有严重的神经系统发病风险。这里,我们报告一例巨大的VS(>40毫米)在30岁的男子谁自发消退。他失去了18年的随访,在重新陈述时,症状学显著改善,重复成像显示肿瘤大小显著缩小.提到其他研究中的类似案例,我们假设大多数大型和巨大的VS都经历了一个生长和停滞的阶段,其次是由于致瘤因素和回归因素之间的平衡变化而导致的回归。结合新兴的分子数据,需要进一步的研究,以更好地了解大型和巨型VSs的历史,从而形成更个性化的治疗方案.这可能包括非操作管理作为一种可行的选择。
    Vestibular schwannomas (VSs) are the most common cerebellopontine tumors. The natural history of smaller-sized VSs (<30 mm) has been well-studied, leading to the recommendation of a \"watch and wait\" approach. However, large VSs (>30 mm) have not been extensively studied, mainly because of their rarity. As such, most patients are conventionally offered surgery which carries a significant risk of neurological morbidity. Here, we report a case of a giant VS (>40 mm) in a 30-year-old man who regressed spontaneously. He was lost to follow-up for 18 years and, upon re-presentation, the symptomatology drastically improved and repeat imaging demonstrated a marked reduction in tumor size. Referring to similar cases in other studies, we postulate that most large and giant VSs undergo a phase of growth and stasis, followed by regression due to shifts in the balance between tumorigenic and regressive factors. Taken together with emerging molecular data, further studies are required to better understand the history of large and giant VSs to shape more personalized treatment options. This potentially includes non-operative management as a tenable option.
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  • 文章类型: Case Reports
    散发性前庭神经鞘瘤(VS)在儿童中很少见。当发生在儿科人群中时,它们通常出现在双侧,与2型神经纤维瘤病(NF2)有关。目前的研究报告了一个没有VS或NF2家族史的4岁男孩,他出现了一个大的(5.7厘米)VS,涉及右小脑桥脑角和内耳道。通过七个阶段的手术干预和两个立体定向γ刀放射外科,病情稳定下来。在2年的随访中,孩子有右耳听力损失,四级面神经麻痹,和正常的运动功能和步态。在序列分析和缺失/重复测试之后,不能鉴定关于NF2的基因突变的明确证据。这个案例强调了考虑零星VS的可能性的重要性,即使在非常年幼的孩子。它强调了不要忽视最初症状的重要性,因为它们可能表明存在大肿瘤,并可能导致诊断延迟。
    Sporadic vestibular schwannomas (VSs) are rare in children. When occurred in the pediatric population, they usually appear bilaterally and are related to neurofibromatosis type 2 (NF2). The current study reports a 4-year-old boy without family history of VS or NF2 who presented with a large (5.7-cm) VS involving the right cerebellopontine angle and internal auditory canal. Through seven-staged surgical interventions and two stereotactic γ‑knife radiosurgery, the disease was stabilized. At 2-year follow-up, the child had right ear hearing loss, grade IV facial palsy, and normal motor function and gait. No definite evidence of gene mutation regarding NF2 can be identified after sequence analysis and deletion/duplication testing. This case highlights the significance of considering the possibility of sporadic VSs, even in very young children. It emphasizes the importance of not overlooking initial symptoms, as they may indicate the presence of a large tumor and could potentially result in delayed diagnosis.
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  • 文章类型: Journal Article
    (1)背景:NF2相关神经鞘瘤病,以双侧前庭神经鞘瘤的发展为特征,通常需要不同的治疗方法。贝伐单抗,虽然被广泛使用,对听力和肿瘤生长表现出不同的有效性。同时,(严重)不良事件经常报告。(2)方法:采用单中心回顾性研究,在2013年至2023年接受贝伐单抗治疗的NF2相关神经鞘瘤病患者中,目的是评估治疗相关结局和临床结局.感兴趣的结果包括听证会,放射学反应,症状,和不良事件。(3)结果:17例患者接受7.5mg/kg贝伐单抗治疗7.1个月。治疗后,40%的患者听力得到改善,53%,听力稳定,7%,听力损失。前庭神经鞘瘤消退发生率为31%,69%保持稳定。进一步的症状改善报告为41%,症状稳定47%,症状恶化12%。在29%的病例中观察到由于不良事件而停止治疗。高血压(82%)和疲劳(29%)是最常见的报告,没有发生4/5级毒性。(4)结论:支持先前的研究,贝伐单抗对听力有积极影响,肿瘤控制,和NF2相关神经鞘瘤病的症状,尽管有常见的不良事件。因此,有必要仔细考虑适当的管理策略。
    (1) Background: NF2-related schwannomatosis, characterized by the development of bilateral vestibular schwannomas, often necessitates varied treatment approaches. Bevacizumab, though widely utilized, demonstrates variable effectiveness on hearing and tumor growth. At the same time, (serious) adverse events have been frequently reported. (2) Methods: A single center retrospective study was conducted, on NF2-related schwannomatosis patients treated with bevacizumab from 2013 to 2023, with the aim to assess treatment-related and clinical outcomes. Outcomes of interest comprised hearing, radiologic response, symptoms, and adverse events. (3) Results: Seventeen patients received 7.5 mg/kg bevacizumab for 7.1 months. Following treatment, 40% of the patients experienced hearing improvement, 53%, stable hearing, and 7%, hearing loss. Vestibular schwannoma regression occurred in 31%, and 69% remained stable. Further symptomatic improvement was reported by 41%, stable symptoms by 47%, and worsened symptoms by 12%. Treatment discontinuation due to adverse events was observed in 29% of cases. Hypertension (82%) and fatigue (29%) were most frequently reported, with no occurrences of grade 4/5 toxicities. (4) Conclusion: Supporting previous studies, bevacizumab demonstrated positive effects on hearing, tumor control, and symptoms in NF2-related schwannomatosis, albeit with common adverse events. Therefore, careful consideration of an appropriate management strategy is warranted.
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