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Minimally Invasive Approaches in the Surgical Treatment of Intracranial Meningiomas: An Analysis of 54 Cases. 颅内脑膜瘤手术治疗中的微创方法:54例病例分析。
Brain tumor research and treatment Pub Date : 2024-04-01 DOI: 10.14791/btrt.2024.0005
Guenther C Feigl, Daniel Staribacher, Gavin Britz, Dzmitry Kuzmin
{"title":"Minimally Invasive Approaches in the Surgical Treatment of Intracranial Meningiomas: An Analysis of 54 Cases.","authors":"Guenther C Feigl, Daniel Staribacher, Gavin Britz, Dzmitry Kuzmin","doi":"10.14791/btrt.2024.0005","DOIUrl":"10.14791/btrt.2024.0005","url":null,"abstract":"<p><strong>Background: </strong>Intracranial meningiomas, being a fairly common disease in the population, often require surgical treatment, which, in turn, can completely heal the patient. The localization of meningiomas often influences treatment even if they are asymptomatic. By modernizing approaches to surgical treatment, it is possible to minimize intra- and postoperative risks, while achieving complete removal of the tumor. One of these methods is minimally invasive neurosurgery, the development of which in recent years allows it to compete with standard surgical methods. The purpose of this study was the objectification of minimally invasive approaches, such as the calculation of the craniotomy area and the ratio of craniotomy area to the resected tumor volume.</p><p><strong>Methods: </strong>The retrospective study consisted of a group of 54 consecutive patients who were operated on in our neurosurgery clinic specialized on minimally invasive neurosurgery. Preoperative planning was carried out using the Surgical Theater visualization platform. Using this system, the tumor volume and craniotomy surface area were calculated. During the analysis, the symptoms before and after the surgery, classification of tumors, postoperative complications, further treatment and follow-up results were assessed.</p><p><strong>Results: </strong>Twelve (22.2%) patients were men and 42 (77.8%) were women. The mean age of the group was 64.2 years (median 67.5). The craniotomy area ranged from 202 to 2,108 mm² (mean 631 mm²). Tumor volume ranged from 0.85 to 110.1 cm<sup>3</sup> (mean 21.6 cm<sup>3</sup>). The craniotomy size of minimally invasive approaches to the skull base was 3-5 times smaller than standard approaches. Skull base meningiomas accounted for 19 cases (35.2%), convexity meningiomas for 26 cases (48.1%), and falx and tentorium meningiomas for 9 cases (16.7%). Three complications were reported: postoperative hemorrhage, CSF leakage, and ophthalmoplegia. Relapse was detected in 2 patients with a mean follow-up of 26.3 months (median 20).</p><p><strong>Conclusion: </strong>Minimally invasive approaches in the surgical treatment of intracranial meningiomas reduce the possibility of operating trauma by several times; they are safe and sufficient for complete removal of the tumor.</p>","PeriodicalId":72453,"journal":{"name":"Brain tumor research and treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11096627/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140917523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Primary Intracranial Ewing Sarcoma With an Unusual Presentation: A Case Report. 表现异常的原发性颅内尤文肉瘤:病例报告。
Brain tumor research and treatment Pub Date : 2024-04-01 DOI: 10.14791/btrt.2024.0003
Hyo-Jeong Kim, Jang Hun Kim, Kyung-Jae Park, Dong-Hyuk Park, Shin-Hyuk Kang
{"title":"Primary Intracranial Ewing Sarcoma With an Unusual Presentation: A Case Report.","authors":"Hyo-Jeong Kim, Jang Hun Kim, Kyung-Jae Park, Dong-Hyuk Park, Shin-Hyuk Kang","doi":"10.14791/btrt.2024.0003","DOIUrl":"10.14791/btrt.2024.0003","url":null,"abstract":"<p><p>Primary extraosseous intracranial Ewing sarcoma (ES) is an extremely rare disease, limited to the pediatric population, that primarily originates in the skull. Here, we present an unusual case of adult Ewing's sarcoma originating from the brain parenchyma. The 50-year-old male patient visited our hospital with severe headache lasting 3 weeks. MRI presented 6.1×6.2×5.2 cm sized heterogeneously enhanced mass containing peritumoral edema in the right frontal lobe. The patient underwent right frontal craniotomy, at which time the gray and red masses adhered to the surrounding brain parenchyma. The mass was completely resected using neuronavigation and electrophysiological monitoring. Histopathological examination revealed ES-compatible findings of small round cell tumor and CD-99 positive membranous immunostaining. Next generation sequencing revealed translocation and fusion of <i>EWSR1</i> and <i>FLI1</i>, consistent with a confirmed diagnosis of ES. Consequently, the patient underwent postoperative radiotherapy. The present case revealed adult primary intracranial ES arising from the frontal lobe. Although its etiology remains poorly understood, intraparenchymal ES should be included in the differential diagnosis of parenchymal brain tumors.</p>","PeriodicalId":72453,"journal":{"name":"Brain tumor research and treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11096630/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140917541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pediatric Eosinophilic Granuloma Associated With Delayed Epidural Hematoma Following on Seizure: A Case Report. 小儿嗜酸性粒细胞肉芽肿与癫痫发作后迟发性硬膜外血肿相关:病例报告。
Brain tumor research and treatment Pub Date : 2024-04-01 DOI: 10.14791/btrt.2024.0018
Hyun Jeong Cho, Sung Chan Park, Jong Min Lee, Na Young Jung, Jun Bum Park
{"title":"Pediatric Eosinophilic Granuloma Associated With Delayed Epidural Hematoma Following on Seizure: A Case Report.","authors":"Hyun Jeong Cho, Sung Chan Park, Jong Min Lee, Na Young Jung, Jun Bum Park","doi":"10.14791/btrt.2024.0018","DOIUrl":"10.14791/btrt.2024.0018","url":null,"abstract":"<p><p>Eosinophilic granuloma (EG), a subtype of Langerhans cell histiocytosis (LCH), the monostotic form, is a rare condition characterized by a solitary bone lesion. It is even more unusual for this condition to be accompanied by an epidural hematoma (EDH). This case is unique in that it is the first to involve delayed EDH following a seizure. We describe a remarkable example of EG accompanied by an EDH and consider the rarity of this comorbidity. A 32-month-old boy developed a rapidly growing skull mass following a minor head injury. During surgical preparation for a biopsy, the patient experienced a single convulsion. Imaging following the seizure revealed an EDH in the vicinity of the mass. The mass was excised and confirmed to be an EG, but with positive margins. The patient underwent chemotherapy after systemic skeletal evaluation, in accordance with the LCH III protocol established by the Histiocytosis Society. EG is a rare neoplasm that typically presents as a painless growth on the skull that gradually enlarges over time. The correlation between EG and EDH is exceedingly uncommon, with only a few documented cases. This case study underscores the significance of considering EG in the differential diagnosis of an expanding cranium mass, even when associated with EDH. Prompt diagnosis and treatment can prevent serious complications and improve patient outcomes.</p>","PeriodicalId":72453,"journal":{"name":"Brain tumor research and treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11096632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140917538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Solitary Skull Langerhans Cell Histiocytosis Presenting With a Pus Draining Fistula: An Unusual Presentation and Review of Literature. 以脓液引流瘘为表现的孤立性颅骨朗格汉斯细胞组织细胞增生症:一种不寻常的表现和文献综述。
Brain tumor research and treatment Pub Date : 2024-04-01 DOI: 10.14791/btrt.2023.0043
Hafiza Hifza Bashir, Hafiza Fatima Aziz, Faizan Saeed, Muhammad Ehsan Bari, Nasir Uddin
{"title":"Solitary Skull Langerhans Cell Histiocytosis Presenting With a Pus Draining Fistula: An Unusual Presentation and Review of Literature.","authors":"Hafiza Hifza Bashir, Hafiza Fatima Aziz, Faizan Saeed, Muhammad Ehsan Bari, Nasir Uddin","doi":"10.14791/btrt.2023.0043","DOIUrl":"10.14791/btrt.2023.0043","url":null,"abstract":"<p><p>Langerhans cell histiocytosis (LCH) is a rare condition in adults, especially when it is limited to a single area of the skull, known as solitary calvarial involvement. In this case report, we present a unique instance of LCH affecting the parietal bone with a pus-draining fistula. This is a rare and unusual presentation at this location, which has been scarcely reported in medical literature. A 30-year-old woman with no prior comorbidity presented with complaints of headache that persisted for a year. She also had swelling on her scalp and a yellowish discharge for 3 weeks, but no neurological problems were observed. Radiology revealed thinning of the calvaria, with ragged margins along the inner table, multiple focal erosions, and involvement of overlying soft tissue and bony sequestrum. The patient underwent biparietal craniotomy and excision of the lesion. The histopathology report showed LCH. After 8 months of follow-up, there was no recurrence. The management of solitary calvarial involvement by LCH with masquerading presentation as a scalp infection can be achieved through complete excision of the lesions, resulting in a favorable outcome.</p>","PeriodicalId":72453,"journal":{"name":"Brain tumor research and treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11096636/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140917544","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Excessively Delayed Radiation Changes After Proton Beam Therapy for Brain Tumors: Report of Two Cases. 质子束治疗脑肿瘤后过度延迟的辐射变化:两个病例的报告
Brain tumor research and treatment Pub Date : 2024-04-01 DOI: 10.14791/btrt.2024.0017
Jeongmin Han, Seong Wook Lee, Na Young Han, Ho-Shin Gwak
{"title":"Excessively Delayed Radiation Changes After Proton Beam Therapy for Brain Tumors: Report of Two Cases.","authors":"Jeongmin Han, Seong Wook Lee, Na Young Han, Ho-Shin Gwak","doi":"10.14791/btrt.2024.0017","DOIUrl":"10.14791/btrt.2024.0017","url":null,"abstract":"<p><p>Delayed cerebral necrosis is a well-known complication of radiation therapy (RT). Because of its irreversible nature, it should be avoided if possible, but avoidance occurs at the expense of potentially compromised tumor control, despite the use of the modern advanced technique of conformal RT that minimizes radiation to normal brain tissue. Risk factors for radiation-induced cerebral necrosis include a higher dose per fraction, larger treatment volume, higher cumulative dose, and shorter time interval (for re-irradiation). The same principle can be applied to proton beam therapy (PBT) to avoid delayed cerebral necrosis. However, conversion of PBT radiation energy into conventional RT is still short of clinical support, compared to conventional RT. Herein, we describe two patients with excessively delayed cerebral necrosis after PBT, in whom follow-up MRI showed no RT-induced changes prior to 3 years after treatment. One patient developed radiation necrosis at 4 years after PBT to the resection cavity of an astroblastoma, and the other developed brainstem necrosis that became symptomatic 6 months after its first appearance on the 3-year follow-up brain MRI. We also discuss possible differences between radiation changes after PBT versus conventional RT.</p>","PeriodicalId":72453,"journal":{"name":"Brain tumor research and treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11096628/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140917517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Spontaneous Regression of a Large Vestibular Schwannoma: Is Nonoperative Management Reasonable? 大前庭神经分裂瘤的自然消退:非手术治疗合理吗?
Brain tumor research and treatment Pub Date : 2024-04-01 DOI: 10.14791/btrt.2024.0008
Kok Ann Colin Teo, Rachit Agrwal, Pin Lin Kei, Su Lone Lim, Siyang Ira Sun, Shiong Wen Low
{"title":"Spontaneous Regression of a Large Vestibular Schwannoma: Is Nonoperative Management Reasonable?","authors":"Kok Ann Colin Teo, Rachit Agrwal, Pin Lin Kei, Su Lone Lim, Siyang Ira Sun, Shiong Wen Low","doi":"10.14791/btrt.2024.0008","DOIUrl":"10.14791/btrt.2024.0008","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":72453,"journal":{"name":"Brain tumor research and treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11096635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140917547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Application of a Standardized Treatment Paradigm as a Strategy to Achieve Optimal Onco-Functional Balance in Glioma Surgery. 在胶质瘤手术中应用标准化治疗范例作为实现最佳肿瘤功能平衡的策略。
Brain tumor research and treatment Pub Date : 2024-04-01 DOI: 10.14791/btrt.2024.0011
Chin Hong Ngai, Colin Teo, Jen Yinn Foo, Sheng Lim, Jia Qian Sophie Koh, Hui-Minn Chan, Ne-Hooi Will Loh, Kejia Teo
{"title":"Application of a Standardized Treatment Paradigm as a Strategy to Achieve Optimal Onco-Functional Balance in Glioma Surgery.","authors":"Chin Hong Ngai, Colin Teo, Jen Yinn Foo, Sheng Lim, Jia Qian Sophie Koh, Hui-Minn Chan, Ne-Hooi Will Loh, Kejia Teo","doi":"10.14791/btrt.2024.0011","DOIUrl":"10.14791/btrt.2024.0011","url":null,"abstract":"<p><strong>Background: </strong>Gliomas, characterized by their invasive persistence and tendency to affect critical brain regions, pose a challenge in surgical resection due to the risk of neurological deficits. This study focuses on a personalized approach to achieving an optimal onco-functional balance in glioma resections, emphasizing maximal tumor removal while preserving the quality of life.</p><p><strong>Methods: </strong>A retrospective analysis of 57 awake surgical resections of gliomas at the National University Hospital, Singapore, was conducted. The inclusion criteria were based on diagnosis, functional boundaries determined by direct electrical stimulation, preoperative Karnofsky Performance Status score, and absence of multifocal disease on MRI. The treatment approach included comprehensive neuropsychological evaluation, determination of suitability for awake surgery, and standard asleep-awake-asleep anesthesia protocol. Tumor resection techniques and postoperative care were systematically followed.</p><p><strong>Results: </strong>The study included 53 patients (55.5% male, average age 39 years), predominantly right-handed. Over half reported seizures as their chief complaint. Tumors were mostly low-grade gliomas. Positive mapping of the primary motor cortex was conducted in all cases, with awake surgery completed in 77.2% of cases. New neurological deficits were observed in 26.3% of patients at 1 month after operation; most showed significant improvement at 6 months.</p><p><strong>Conclusion: </strong>The standardized treatment paradigm effectively achieved an optimal onco-functional balance in glioma patients. While some patients experienced neurological deficits postoperatively, the majority recovered to their preoperative baseline within 3 months. The approach prioritizes patient empowerment and customized utilization of functional mapping techniques, considering the challenge of preserving diverse languages in a multilingual patient population.</p>","PeriodicalId":72453,"journal":{"name":"Brain tumor research and treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11096634/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140917512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Awake Surgery for Angiocentric Glioma in the Eloquent Area in an Adolescent: A Case Report. 为一名青少年进行清醒状态下的血管中心性脑胶质瘤手术:病例报告。
Brain tumor research and treatment Pub Date : 2024-01-01 DOI: 10.14791/btrt.2023.0044
Yuma Yano, Ryosuke Matsuda, Fumi Okada, Maiko Takeda, Ryosuke Maeoka, Ichiro Nakgawa
{"title":"Awake Surgery for Angiocentric Glioma in the Eloquent Area in an Adolescent: A Case Report.","authors":"Yuma Yano, Ryosuke Matsuda, Fumi Okada, Maiko Takeda, Ryosuke Maeoka, Ichiro Nakgawa","doi":"10.14791/btrt.2023.0044","DOIUrl":"10.14791/btrt.2023.0044","url":null,"abstract":"<p><p>Angiocentric glioma (AG) is an extremely rare tumor that often develops in adolescents. Awake surgery for AG occurring in the eloquent area has not been reported to date. We report a case involving a right-handed 15-year-old boy with AG. He presented with a first-time generalized tonic-clonic seizure and was rushed to the local hospital. CT of the head indicated a left frontal low-density mass with no calcification. He was subsequently referred to our hospital. Comparison with a CT scan obtained two years prior due to mild head trauma indicated that the lesion showed a trend toward enlargement. The lesion was located in the anterior and lateral portions of the primary motor cortex, and MRI showed homogenous hypointensity on T1-weighted and hyperintensity on T2-weighted images. Contrast-enhanced MRI showed a linear contrast effect. The patient underwent awake surgery with successful intraoperative brain mapping and total resection, and brain function was preserved. Pathological analysis revealed AG. He returned to his normal life and has shown no recurrence without additional treatment for 2 years. Thus, awake surgery for complete tumor resection while preserving brain function is effective and safe even in adolescents with AGs.</p>","PeriodicalId":72453,"journal":{"name":"Brain tumor research and treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10864135/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139693660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Lynch Syndrome-Associated Glioblastoma Treated With Concomitant Chemoradiotherapy and Immune Checkpoint Inhibitors: Case Report and Review of Literature. 林奇综合征相关胶质母细胞瘤同时接受化放疗和免疫检查点抑制剂治疗:病例报告和文献综述。
Brain tumor research and treatment Pub Date : 2024-01-01 DOI: 10.14791/btrt.2023.0042
Kenta Nakase, Ryosuke Matsuda, Shoh Sasaki, Ichiro Nakagawa
{"title":"Lynch Syndrome-Associated Glioblastoma Treated With Concomitant Chemoradiotherapy and Immune Checkpoint Inhibitors: Case Report and Review of Literature.","authors":"Kenta Nakase, Ryosuke Matsuda, Shoh Sasaki, Ichiro Nakagawa","doi":"10.14791/btrt.2023.0042","DOIUrl":"10.14791/btrt.2023.0042","url":null,"abstract":"<p><p>Lynch syndrome (LS) is an autosomal dominant disorder caused by mutations in mismatch repair (MMR) genes and is also known to be associated with glioblastomas. The efficacy of immunotherapy for LS-associated glioblastomas remains unknown. Herein, we report a rare case of LS-associated glioblastoma, treated with chemotherapy using immune checkpoint inhibitors (ICI). A 41-year-old female patient presented with headaches and sensory disturbances in the right upper limb for 6 weeks. She had been treated for rectal cancer and had a family history of LS. MRI revealed two ring-enhancing lesions in the left precentral gyrus. She underwent subtotal resection, leading to a pathological diagnosis of isocitrate dehydrogenase wild-type glioblastoma. She received daily administration of (temozolomide, 75 mg/m²) and concurrent radiotherapy (60 Gy) postoperatively. However, the tumor recurred 1 year after the initial treatment. A molecular genetic study showed high microsatellite instability (MSI), and she was treated with pembrolizumab therapy. Disease progression occurred despite six cycles of pembrolizumab therapy and radiotherapy at the dose of 40 Gy. She died due to glioblastoma progression 19 months after the initial treatment. The present case demonstrates that some LS-associated glioblastomas may be resistant to ICI despite high MSI, possibly because of intratumor heterogeneity related to MMR deficiency.</p>","PeriodicalId":72453,"journal":{"name":"Brain tumor research and treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10864134/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139693666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comprehensive Molecular Genetic Analysis in Glioma Patients by Next Generation Sequencing. 利用新一代测序技术对胶质瘤患者进行全面的分子遗传学分析。
Brain tumor research and treatment Pub Date : 2024-01-01 DOI: 10.14791/btrt.2023.0036
Taeeun Kim, Ahwon Lee, Stephan Ahn, Jae Sung Park, Sin Soo Jeun, Youn Soo Lee
{"title":"Comprehensive Molecular Genetic Analysis in Glioma Patients by Next Generation Sequencing.","authors":"Taeeun Kim, Ahwon Lee, Stephan Ahn, Jae Sung Park, Sin Soo Jeun, Youn Soo Lee","doi":"10.14791/btrt.2023.0036","DOIUrl":"10.14791/btrt.2023.0036","url":null,"abstract":"<p><strong>Background: </strong>Glioma is caused by multiple genomic alterations. The evolving classification of gliomas emphasizes the significance of molecular testing. Next generation sequencing (NGS) offers the assessment of parallel combinations of multiple genetic alterations and identifying actionable mutations that guide treatment. This study comprehensively analyzed glioma patients using multi-gene NGS panels, providing powerful insights to inform diagnostic classification and targeted therapies.</p><p><strong>Methods: </strong>We conducted a targeted panel-based NGS analysis on formalin-fixed and paraffin-embedded nucleic acids extracted from a total of 147 glioma patients. These samples underwent amplicon capture-based library preparation and sequenced using the Oncomine Comprehensive Assay platform. The resulting sequencing data were then analyzed using the bioinformatics tools.</p><p><strong>Results: </strong>A total of 301 mutations, were found in 132 out of 147 tumors (89.8%). These mutations were in 68 different genes. In 62 tumor samples (42.2%), copy number variations (CNVs) with gene amplifications occurred in 25 genes. Moreover, 25 tumor samples (17.0%) showed gene fusions in 6 genes and intragenic deletion in a gene. Our analysis identified actionable targets in several genes, including 11 with mutations, 8 with CNVs, and 3 with gene fusions and intragenic deletion. These findings could impact FDA-approved therapies, NCCN guideline-based treatments, and clinical trials.</p><p><strong>Conclusion: </strong>We analyzed precisely diagnosing the classification of gliomas, detailing the frequency and co-occurrence of genetic alterations and identifying genetic alterations with potential therapeutic targets by NGS-based molecular analysis. The high-throughput NGS analysis is an efficient and powerful tool to comprehensively support molecular testing in neurooncology.</p>","PeriodicalId":72453,"journal":{"name":"Brain tumor research and treatment","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10864139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139693664","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","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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