Journal of Neuro-Oncology最新文献

{"title":"RAPID, a multicenter collaboration for the study of craniopharyngiomas: challenges, opportunities, and future directions.","authors":"Michael Karsy, Varun R Kshettry, Andrew S Little","doi":"10.1007/s11060-025-04981-7","DOIUrl":"10.1007/s11060-025-04981-7","url":null,"abstract":"","PeriodicalId":16425,"journal":{"name":"Journal of Neuro-Oncology","volume":" ","pages":"489-492"},"PeriodicalIF":3.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143483216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gamma Knife Radiosurgery for optic nerve sheath meningioma: comparison of efficacy and costs with radiotherapy under Korean health insurance system.","authors":"Shang-Te Ma, Yong Chan Ahn, Do Hoon Lim, Jung-Il Lee, Ho Jun Seol, Won-Jae Lee, Yong Seok Im, Kyung-Ah Park, Yoon-Duck Kim, Kyung In Woo","doi":"10.1007/s11060-025-04986-2","DOIUrl":"10.1007/s11060-025-04986-2","url":null,"abstract":"<p><strong>Purpose: </strong>To survey the real-world effectiveness and cost of optic nerve sheath meningioma (ONSM) treating with Gamma Knife Radiosurgery (GKRS), and compare with the external beam radiation therapy (EBRT).</p><p><strong>Methods: </strong>Retrospective, comparative study that included patients with primary ONSM treated with either GKRS or EBRT in Samsung Medical Center, Korea. The treatment response, and treatment costs were compared between GKRS and EBRT groups.</p><p><strong>Results: </strong>There were 34 adult patients with primary ONSM treated with either GKRS (n = 25) or EBRT (n = 9) (follow-up period: 6-207 months). The local tumor control rates (GKRS: 92%; EBRT: 100%; P = 1) and vision preservation rates (GKRS: 64%; EBRT: 67%; P = 1) were similar in both groups. The mean gross tumor volume (GTV) decreased by 21.4 ± 19.7% after GKRS and 26.4 ± 18.7% after EBRT (P = 0.4803). The complication rates did not differ between two modalities. Factors associated with better visual outcomes were pretreatment BCVA > 20/50 (odds ratio: 6.000, P = 0.0234) and the absence of intracranial tumor extension (odds ratio: 30.00, P = 0.0001). GKRS reduced the total costs of care by 43% under Korean National Health Insurance System (NHIS).</p><p><strong>Conclusion: </strong>This study revealed that GKRS and EBRT had similar treatment efficacy and safety profile in treating ONSMs. Instant management is advantageous when the BCVA deteriorates to 20/50 and tumors involve intracranially. Under the framework of Korean NHIS, GKRS contributed to less indirect cost estimates and was preferred by patients under shared decision-making process.</p>","PeriodicalId":16425,"journal":{"name":"Journal of Neuro-Oncology","volume":" ","pages":"331-341"},"PeriodicalIF":3.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12106137/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143605208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Bevacizumab in recurrent glioblastoma: does dose matter? Our monocentric and comparative experience.","authors":"Giulia Cerretti, Alberto Bosio, Giovanni Librizzi, Giovanna Pintacuda, Mario Caccese, Alessandro Salvalaggio, Marco Zoccarato, Alessandro Parisi, Marta Padovan, Marta Maccari, Francesco Cavallin, Luisa Bellu, Francesco Pasqualetti, Tamara Ius, Luca Denaro, Francesco Volpin, Marina Coppola, Sara Lonardi, Giuseppe Lombardi","doi":"10.1007/s11060-025-04992-4","DOIUrl":"10.1007/s11060-025-04992-4","url":null,"abstract":"<p><strong>Purpose: </strong>Bevacizumab is an anti-angiogenetic treatment that can be used in patients with recurrent glioblastoma, but there are limited and controversial data on the optimal dose and schedule, associated toxicities and survival benefits of different doses.</p><p><strong>Methods: </strong>A retrospective analysis of patients with recurrent IDHwt glioblastoma treated with bevacizumab at the Veneto Institute of Oncology was performed. Patients received bevacizumab in 2 different schedules (5 mg/kg or 10 mg/kg q2w), as monotherapy or in combination with chemotherapy.</p><p><strong>Results: </strong>81 patients were analyzed, 33 received bevacizumab 5 mg/Kg, 48 received bevacizumab 10 mg/Kg. Median PFS was 4 months in both patients treated with 5 mg/kg and those treated with 10 mg/kg (p-value=0.08), median OS was 5 months in patients treated with 5 mg/kg and 7 months in those treated with 10 mg/kg (p-value=0.10). There was no difference in the use of steroid therapy between the two groups. The incidence of adverse events was not statistically different.</p><p><strong>Conclusions: </strong>There was no statistically significant difference in survival, PFS, response, toxicity and steroid reduction between the two different doses. These results may support the use of lower doses of the drug with comparable benefit for patients and with additional advantage in terms of health care costs.</p>","PeriodicalId":16425,"journal":{"name":"Journal of Neuro-Oncology","volume":" ","pages":"449-456"},"PeriodicalIF":3.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12106581/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Serum exosomal miRNA contributes to the diagnosis of leptomeningeal carcinomatosis.","authors":"Jie Jin, Junjuan Qin, Xuejiao Qi, Jiasi Zhang, YingLu Zhang","doi":"10.1007/s11060-025-04999-x","DOIUrl":"10.1007/s11060-025-04999-x","url":null,"abstract":"<p><strong>Purpose: </strong>Leptomeningeal carcinomatosis (LC) is a severe complication in the advanced stage of lung adenocarcinoma, with an extremely poor prognosis. Currently, the diagnosis of LC poses challenges. Serum exosomal miRNAs (microRNAs) have been demonstrated to possess potential as viable biomarkers. However, their value in the diagnosis of LC remains unclear.</p><p><strong>Methods: </strong>In this study, serum samples were collected from lung adenocarcinoma patients with LC. The control groups consisted of patients with early-stage and advanced-stage lung adenocarcinoma without LC. Serum exosomes were isolated for high - throughput RNA sequencing to screen for differential miRNAs, and the results were validated in 123 samples. Subsequently, the receiver operating characteristic (ROC) curve was used to evaluate the diagnostic ability of exosomal miRNAs for LC.</p><p><strong>Results: </strong>The results of miRNA sequencing revealed seven differentially enriched miRNAs (miRNA-1296-5p, miR-503-5p, miR-499a-5p, miR-374a-5p, miR-3173-5p, miR-370-3p and miR-885-3p). The ddPCR confirmed that the expression levels of miRNA-1296-5p, miR-499a-5p and miR-374a-5p were significantly elevated in LC, while miR-370-3p was significantly decreased (P < 0.05). ROC curve analysis showed that the AUC of the combination of miRNA-1296-5p, miR-499a-5p and miR-370-3p with CEA was 0.803 (P < 0.0001), displaying higher diagnostic power for LC.</p><p><strong>Conclusion: </strong>This study suggests that the specific expression of miRNA-1296-5p, miR-499a-5p, miR-374a-5p and miR-370-3p in the serum exosomes of LC, which has diagnostic potential. And the combination of miRNA-1296-5p, miR-499a-5p and miR-370-3p with CEA can further enhance this potential.</p>","PeriodicalId":16425,"journal":{"name":"Journal of Neuro-Oncology","volume":" ","pages":"419-428"},"PeriodicalIF":3.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12106567/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The spectrum of radiation therapy options for craniopharyngioma: a systematic review.","authors":"Paul M Harary, Sanjeeth Rajaram, Yusuke S Hori, David J Park, Steven D Chang","doi":"10.1007/s11060-025-05001-4","DOIUrl":"10.1007/s11060-025-05001-4","url":null,"abstract":"<p><strong>Purpose: </strong>Craniopharyngiomas (CPs) are rare, slow-growing brain tumors which originate in the sellar region. CPs may present with symptoms secondary to compression of surrounding structures, particularly the pituitary gland, and surgical removal has traditionally been the mainstay of treatment. However, due to high recurrence rates for CPs, especially when gross total resection is not feasible, radiotherapy has played an increasingly significant role in their management. Here, we review radiation modalities, treatment settings, and future directions in the management of CP. In addition, we outline emerging therapeutic combinations involving targeted therapies.</p><p><strong>Methods: </strong>A systematic review was performed in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. A search of the MEDLINE/PubMed, Embase, and Web of Science databases was used for initial identification of articles. Included studies were then grouped into the following treatment modalities: conventional radiotherapy (CRT), intensity-modulated radiotherapy (IMRT), proton therapy, fractionated stereotactic radiotherapy (FSRT) /stereotactic radiosurgery (SRS), and brachytherapy.</p><p><strong>Results: </strong>A total of 60 studies met inclusion criteria, comprising 3041 patients, with a median sample size of 33 (range: 10-242) and age ranging from 6 to 55. This review included 8, 15, 3, 12, and 29 reports corresponding to brachytherapy, CRT, IMRT, proton therapy, and FSRT/SRS, respectively. Proton therapy and FSRT had the highest median 5-year progression-free survival (PFS), with rates of 92% and 89%, respectively. IMRT and proton therapy were primarily investigated in pediatric patients (median ages of 8.2 and 10.3 years, respectively). By comparison, FSRT and SRS research has mainly been in adult cohorts.</p><p><strong>Conclusions: </strong>Precision radiotherapy appears to be associated with high rates of tumor control in CP, suggesting these approaches bear further investigation. Selection of the appropriate radiation modality from those reviewed likely depends on several patient-specific factors. Important considerations include tumor location and volume, patient age, prior treatments for CP, and patient preference.</p>","PeriodicalId":16425,"journal":{"name":"Journal of Neuro-Oncology","volume":" ","pages":"275-288"},"PeriodicalIF":3.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143597237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A morphological features-based nomogram for predicting facial nerve function in the immediate postoperative period after vestibular schwannoma surgery.","authors":"Yuichi Fujita, Yoichi Uozumi, Yosuke Fujimoto, Hiroaki Nagashima, Masaaki Kohta, Kazuhiro Tanaka, Hidehito Kimura, Atsushi Fujita, Eiji Kohmura, Takashi Sasayama","doi":"10.1007/s11060-025-04984-4","DOIUrl":"10.1007/s11060-025-04984-4","url":null,"abstract":"<p><strong>Purpose: </strong>Tumor morphology critically influences facial nerve (FN) outcomes following vestibular schwannoma (VS) surgery. This study aimed to develop a nomogram based on preoperative features for preoperative prediction of FN outcomes after VS surgery.</p><p><strong>Methods: </strong>A retrospective analysis included patients with sporadic VS who underwent surgical resection via the retrosigmoid approach. Tumor size was assessed using the Koos grade, the intrameatal components using the fundal fluid cap (FFC) sign, and the cerebellopontine angle cisternal components using our modified morphological subclassification. Logistic regression analysis was performed to construct a nomogram for predicting immediate postoperative FN function.</p><p><strong>Results: </strong>A total of 265 patients with VS met the inclusion criteria. Of these patients, 62 (23.4%) had poor FN function (House-Brackmann grade ≥ III) immediately after surgery. Univariate logistic regression analysis identified the Koos grade (p = 0.001), FFC sign (p = 0.023), and morphological subtype (p < 0.001) as significant predictors of poor FN function immediately after surgery. In multivariate logistic regression analysis, the FFC sign (OR 2.07, p = 0.042) and morphological subtype (OR 8.21, p < 0.001) remained statistically significant independent predictors of poor FN function. A nomogram constructed based on these indicators demonstrated good discrimination in the training cohort (area under the curve [AUC] 0.80), internal validation cohort (AUC 0.79), and external validation cohort (AUC 0.97).</p><p><strong>Conclusions: </strong>A simple and reliable nomogram incorporating the Koos grade, FFC sign, and morphological subtype accurately predicts the risk of FN injury during surgery aimed at total resection of VS. This clinically straightforward tool can assist in patient counseling and development of more individualized surgical strategies to improve FN outcomes in patients with VS.</p>","PeriodicalId":16425,"journal":{"name":"Journal of Neuro-Oncology","volume":" ","pages":"305-315"},"PeriodicalIF":3.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Breast cancer spine metastases treated with stereotactic body radiation therapy: patient outcomes and predictors.","authors":"Bryce Thomsen, Danny Vesprini, Eshetu Atenafu, Jay Detsky, Jeremie Larouche, Pejman Maralani, Sten Myrehaug, Hany Soliman, Chai-Lin Tseng, Kang Liang Zeng, Beibei Zhang, Arjun Sahgal, Hanbo Chen","doi":"10.1007/s11060-025-04998-y","DOIUrl":"10.1007/s11060-025-04998-y","url":null,"abstract":"<p><strong>Background/purpose: </strong>Spine stereotactic body radiation therapy (SBRT) is increasingly utilized for oligometastatic and symptomatic breast cancer spinal metastases (BCSM), yet primary site-specific outcomes remain lacking. This study evaluates outcomes of SBRT for BCSM, focusing on predictors of local failure (LF), vertebral compression fraction (VCF) and overall survival (OS).</p><p><strong>Materials/methods: </strong>We retrospectively analyzed 409 BCSM in 168 patients treated with SBRT between 2008 and 2022. Receptor status was grouped based on ER+/Her2-, HER2+, and ER-/HER2-. Follow-up included full-spine magnetic resonance imaging (MRI) and clinical assessment every 3-6 months post-SBRT. The primary endpoint was radiological LF, and secondary endpoints were OS and VCF.</p><p><strong>Results: </strong>Median follow-up was 33 months (range, 3.3-123 months), most were ECOG 0-1 (95%), neurologically intact (94%), polymetastatic (> 5 metastases, 45%), and ER+/HER2- (79%). Of 409 segments, most had no prior radiation or surgery (76%), were SINS stable (60%) and treated with 24-28 Gy/2 fractions (73%). Five-year LF, OS and VCF rates were 14%, 45% and 11%, respectively. On multivariable analyses, lower LF rates were associated with < 2 lines of prior systemic therapy, low/no grade epidural disease, and greater equivalent dose in 2 Gy fractions (α/β = 2) to the spinal cord/thecal sac (HR = 0.97 per 1 Gy increase, 95% CI: 0.949-0.995, p = 0.019). ER-/HER2-, liver and lung metastases, and > 2 systemic therapy lines predicted worse OS. Baseline VCF and deformity were associated with a higher VCF risk.</p><p><strong>Conclusion: </strong>Treatment intensification in those heavily systemically pretreated or with high-grade epidural disease may optimize long-term LF rates independent of molecular status.</p>","PeriodicalId":16425,"journal":{"name":"Journal of Neuro-Oncology","volume":" ","pages":"409-418"},"PeriodicalIF":3.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143663659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of psychotropic medications among glioma patients in Denmark, Norway, Sweden, and Wales.","authors":"Sarah M Baxter, Tone Bjørge, Rolf Bjerkvig, Christopher Cardwell, Anders Engeland, Julia Eriksson, Laurel Habel, Jannicke Igland, Kari Klungsøyr, Astrid Lunde, Hrvoje Miletic, Morten Olesen, Anton Pottegård, Johan Reutfors, Mohammad Jalil Sharifian, Marie Linder, Blánaid Hicks","doi":"10.1007/s11060-025-04996-0","DOIUrl":"10.1007/s11060-025-04996-0","url":null,"abstract":"<p><strong>Purpose: </strong>Glioma patients often suffer from psychiatric and neurological conditions. However, little is known about the patterns of use of psychotropic drugs pre- and post-glioma diagnosis. Therefore, we assessed temporal patterns of psychotropic prescriptions among glioma patients, compared to an age and sex matched comparison cohort in four European countries.</p><p><strong>Methods: </strong>Incident gliomas were identified in Wales from the Secured Anonymized Information Linkage Databank (2005-2016) and population-based registries in Denmark (2001-2016), Norway (2006-2019), and Sweden (2008-2018). From each data source, a cancer-free comparison cohort was matched to the glioma cases by age and sex. We calculated rates of new psychotropic prescriptions and any psychotropic prescriptions during the 2 years prior to and post glioma diagnosis. Analyses were stratified by histological subtypes and subclasses of psychotropic medications.</p><p><strong>Results: </strong>We identified 16,007 glioma patients. The rate of new psychotropic drug use increased from 7 months before diagnosis, peaking around the month of glioma diagnosis (with peak rates ranging from 227 to 753 new psychotropic drugs per 1000 person-months). New use remained substantially higher among glioma patients than comparators throughout the 2-year follow-up period after glioma diagnosis, though rates of new use continued to decline throughout. New use was largely driven by antiepileptics, anxiolytics, hypnotics, and sedatives. Patterns were similar when analyses were stratified by histological subtype.</p><p><strong>Conclusion: </strong>Psychotropic drug use among glioma patients was high, and elevations observed around the time of cancer diagnosis, largely driven by antiepileptics, anxiolytics, hypnotics, and sedatives, are likely associated with the consequences of the disease.</p>","PeriodicalId":16425,"journal":{"name":"Journal of Neuro-Oncology","volume":" ","pages":"383-395"},"PeriodicalIF":3.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12106481/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Large vestibular schwannoma treated using a cranial nerve sparing approach with planned subtotal microsurgical resection and stereotactic radiosurgery: meta-analysis and International Stereotactic Radiosurgery Society (ISRS) practice guidelines.","authors":"Constantin Tuleasca, Rupesh Kotecha, Arjun Sahgal, Antonio de Salles, Laura Fariselli, Ian Paddick, Jean Régis, Jason Sheehan, John H Suh, Shoji Yomo, Marc Levivier","doi":"10.1007/s11060-025-04990-6","DOIUrl":"10.1007/s11060-025-04990-6","url":null,"abstract":"<p><strong>Introduction: </strong>Stereotactic radiosurgery (SRS) has become a standard of care for small- to medium- size vestibular schwannomas (VS), while the majority of patients with large VS still require microsurgical resection due to potential consequences of long tract and cranial nerve compression, intracranial hypertension or hydrocephalus.</p><p><strong>Methods: </strong>We performed a systematic review and meta-analysis of the literature specific to planned subtotal resection for large VSs followed by SRS to the residual tumor to inform clinical practice guideline development. The Medline and Embase databases were used to apply the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) approach to search for manuscripts reporting outcomes for large VSs treated with this paradigm, with a search end date of June 1st 2023. Crude outcomes were pooled using weighted random effects.</p><p><strong>Results: </strong>12 series met inclusion criteria reporting on treatment outcomes for 677 patients. Overall tumor control was 89.9% (86.9-92.9%, p < 0.001), with tumor stability observed in 43.9% (19.9-68%, p < 0.001) and tumor reduction in 39.9% (57-74.2%, p = 0.02) post-SRS. Facial nerve functional preservation immediately after microsurgery was 88.0% (82.7-93.3%, p < 0.001), improving to 94.4% (91.4-97.4%, p < 0.001) at last follow-up. Cochlear functional preservation immediately after microsurgery was 58.8% (33.2-84.4%, p < 0.001), decreasing to 57.4% (33-81.8%, p < 0.001) at last follow-up.</p><p><strong>Conclusions: </strong>A cranial nerve sparing approach with planned subtotal microsurgical resection and SRS to the residual tumor achieves high rates of tumor control with highly satisfactory outcome of facial and cochlear functional preservation. Clinical practice consensus recommendations on behalf of the International Stereotactic Radiosurgery Society (ISRS) are also presented.</p>","PeriodicalId":16425,"journal":{"name":"Journal of Neuro-Oncology","volume":" ","pages":"245-262"},"PeriodicalIF":3.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12106484/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143764175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gene therapy and genome-editing for schwannoma in NF2-related schwannomatosis: current understanding and future directions.","authors":"Ryota Tamura, Masahiro Yo, Masahiro Toda","doi":"10.1007/s11060-025-04995-1","DOIUrl":"10.1007/s11060-025-04995-1","url":null,"abstract":"<p><p>NF2-related schwannomatosis (NF2-SWN) is a rare genetic disorder characterized by bilateral vestibular schwannomas. NF2-SWN represents a difficult management problem with most patients facing substantial morbidity and reduced life expectancy. Gene therapy involves replacing a faulty gene or adding a new gene in an attempt to cure disease or improve the patient's condition. Several studies of gene therapy for NF2-SWN have utilized adeno-associated viral vector serotype-1 (AAV1) to deliver apoptosis-inducing enzyme, the pore-forming protein gasdermin-D, apoptosis-associated speck-like protein containing a caspase recruitment domain, and functional merlin causing schwannoma regression in a xenograft mouse model. These studies support the potential therapeutic efficacy of gene therapy against NF2-SWN. Currently, gene therapy approaches primarily include bystander-killing effect by inducing immune responses, gene replacement or augmentation therapy, and gene knockdown and replacement combination approach through genome-editing technology. Although these gene therapeutic strategies have shown potential in preclinical animal model studies, they still face many specific challenges apart from the traditional challenges in gene therapy, such as immunogenicity, delivery vector, manufacturing, and long-term effects of treatments. In this article, we discuss the current understanding and future directions of gene therapy and genome-editing for schwannoma in NF2-SWN.</p>","PeriodicalId":16425,"journal":{"name":"Journal of Neuro-Oncology","volume":" ","pages":"263-273"},"PeriodicalIF":3.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143585971","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}