Neuro-oncology Advances最新文献

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Intensive pediatric chemotherapy regimen (PNET HR+5) in adult high-risk medulloblastoma and pinealoblastoma patients 成人高危髓母细胞瘤和松果体母细胞瘤患者的儿科强化化疗方案(PNET HR+5)
Neuro-oncology Advances Pub Date : 2024-08-10 DOI: 10.1093/noajnl/vdae141
L. Larrouquere, Christelle Dufour, Cécile Faure-Conter, C. Alapetite, D. Meyronet, Stéphanie Bolle, A. Bonneville-Levard, Marie-Pierre Sunyach, Valérie Laurence, Didier Frappaz
{"title":"Intensive pediatric chemotherapy regimen (PNET HR+5) in adult high-risk medulloblastoma and pinealoblastoma patients","authors":"L. Larrouquere, Christelle Dufour, Cécile Faure-Conter, C. Alapetite, D. Meyronet, Stéphanie Bolle, A. Bonneville-Levard, Marie-Pierre Sunyach, Valérie Laurence, Didier Frappaz","doi":"10.1093/noajnl/vdae141","DOIUrl":"https://doi.org/10.1093/noajnl/vdae141","url":null,"abstract":"\u0000 \u0000 \u0000 High-risk medulloblastoma (HRMB) is rare in adults. The 5-year overall survival rate is less than 60%. We present here a retrospective analysis of adults treated with an intensive pediatric chemo-radiotherapy regimen PNET HR+5: NCT00936156.\u0000 \u0000 \u0000 \u0000 18 patients over the age of 20 (range, 20-33 years) with HRMB (n = 13), pinealoblastoma (n = 4) and central nervous system embryonal tumor (n = 1) were treated with 2 courses of carboplatin-etoposide followed by 2 courses of high-dose thiotepa (HDT) with autologous hematopoietic stem-cell rescue. A craniospinal irradiation (CSI) (36 Gy craniospinal axis then a boost of 18 Gy to the primary tumor site) was then initiated within 150 days of surgery, completed with 6 cycles of temozolomide; the axis irradiation was not mandatory for non-metastatic pinealoblastoma.\u0000 \u0000 \u0000 \u0000 We observed no progression under chemotherapy and no toxic death. Four patients received only 1 HDT. Two non-metastatic pinealoblastoma received only focal irradiation. One medulloblastoma received only 25 Gy on axis. 56% (10/18) received 6 cycles of temozolomide. No long-term toxicity was recorded. Median time between surgery and CSI was 175 days (range, 115-250). With a median follow-up of 6.0 years (range, 2.6-9), the progression-free survival and overall survival rates for medulloblastoma were respectively 65% (95% CI: 31-86%) and 76% (95% CI: 42-91%) at 5 years.\u0000 \u0000 \u0000 \u0000 The PNET HR+5 regimen showed promising results in an adult population, with a meaningful improvement in progression-free survival and overall survival in patients with HRMB.\u0000","PeriodicalId":19138,"journal":{"name":"Neuro-oncology Advances","volume":"7 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141920209","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
FGFR1 gene mutation as a potential risk factor for spontaneous intracranial hemorrhage in pediatric low grade glioma patients FGFR1基因突变是小儿低级别胶质瘤患者自发性颅内出血的潜在风险因素
Neuro-oncology Advances Pub Date : 2024-06-04 DOI: 10.1093/noajnl/vdae074
Maxine N Gonzalez-Vega, Brittany Lebert, S. Campion, Aaron S Wagner, Ana Aguilar-Bonilla, Amy Smith
{"title":"FGFR1 gene mutation as a potential risk factor for spontaneous intracranial hemorrhage in pediatric low grade glioma patients","authors":"Maxine N Gonzalez-Vega, Brittany Lebert, S. Campion, Aaron S Wagner, Ana Aguilar-Bonilla, Amy Smith","doi":"10.1093/noajnl/vdae074","DOIUrl":"https://doi.org/10.1093/noajnl/vdae074","url":null,"abstract":"\u0000 \u0000 \u0000 Fibroblast Growth Factor Receptor 1 (FGFR1) mutations have been associated with poorer prognoses in pediatric CNS tumor patients. A recent study highlighted a link between FGFR1 mutations and spontaneous intracranial hemorrhage (ICH), demonstrating that all their patients with an FGFR1 alteration experienced hemorrhage at some point during their course of treatment.\u0000 \u0000 \u0000 \u0000 The current study examined fifty out of sixty-seven pediatric patients with low grade gliomas that had genomic testing between 2011-2022 at our institution to determine whether a correlation exists between FGFR1 mutations and spontaneous ICH.\u0000 \u0000 \u0000 \u0000 We found that of the fifty patients with genomic data, seven (14%) experienced ICH, an additional spontaneous hemorrhage was recorded, however, no genomic testing was performed for this case. Five of the seven patients (71.4%) had an FGFR1 modification. In our patient population, six expressed a detectable FGFR1 mutation (66.7% [4/6] had N546K alteration, 16.7% [1/6] FGFR1 exons duplication, and 16.7% [1/6] had a variant of unknown significance). The patient with the FGFR1 variant of unknown significance had no reported spontaneous hemorrhage. Statistical analysis found a significant association between FGFR1 and spontaneous intracranial hemorrhage (p-value = <0.0001). In the patient population, all cases of PTPN11 alterations (n=3) co-occurred with FGFR1 mutations.\u0000 \u0000 \u0000 \u0000 Our case series highlights this link between the FGFR1 mutation and spontaneous intracranial hemorrhage in pediatric Low-Grade Gliomas.\u0000","PeriodicalId":19138,"journal":{"name":"Neuro-oncology Advances","volume":"65 14","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141268276","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Leveraging murine models of the Neurofibromatosis type 1 (NF1) cancer predisposition syndrome to elucidate the cellular circuits that drive pediatric low-grade glioma formation and progression 利用神经纤维瘤病 1 型 (NF1) 癌症易感综合征的小鼠模型,阐明驱动小儿低级别胶质瘤形成和发展的细胞回路
Neuro-oncology Advances Pub Date : 2024-06-04 DOI: 10.1093/noajnl/vdae054
David H Gutmann
{"title":"Leveraging murine models of the Neurofibromatosis type 1 (NF1) cancer predisposition syndrome to elucidate the cellular circuits that drive pediatric low-grade glioma formation and progression","authors":"David H Gutmann","doi":"10.1093/noajnl/vdae054","DOIUrl":"https://doi.org/10.1093/noajnl/vdae054","url":null,"abstract":"\u0000 Brain tumors are the leading cause of cancer-related death in children, where low-grade gliomas (LGGs) predominate. One common hereditary cause for LGGs involves neurofibromatosis-1 (NF1) gene mutation, as seen in individuals with the NF1 cancer predisposition syndrome. As such, children with NF1 are at increased risk of developing LGGs of the optic pathway, brainstem, cerebellum, and midline brain structures. Using genetically engineered mouse models, studies have revealed both cell intrinsic (MEK signaling) and stromal dependencies that underlie their formation and growth. Importantly, these dependencies represent vulnerabilities against which targeted agents can be used for preclinical investigation prior to clinical translation.","PeriodicalId":19138,"journal":{"name":"Neuro-oncology Advances","volume":"86 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141267892","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Longitudinal assessment of quality of life, neurocognition and psychopathology in patients with low-grade glioma on first-line temozolomide: a feasibility study 对一线使用替莫唑胺的低级别胶质瘤患者的生活质量、神经认知和精神病理学进行纵向评估:一项可行性研究
Neuro-oncology Advances Pub Date : 2024-06-04 DOI: 10.1093/noajnl/vdae084
A. Darlix, Maëlle Monnier, Florence Castan, L. Coutant, Michel Fabbro, Ève Denis, M. Carrière, Nicolas Menjot-de-Champfleur, Valérie Rigau, H. Duffau, E. Guerdoux
{"title":"Longitudinal assessment of quality of life, neurocognition and psychopathology in patients with low-grade glioma on first-line temozolomide: a feasibility study","authors":"A. Darlix, Maëlle Monnier, Florence Castan, L. Coutant, Michel Fabbro, Ève Denis, M. Carrière, Nicolas Menjot-de-Champfleur, Valérie Rigau, H. Duffau, E. Guerdoux","doi":"10.1093/noajnl/vdae084","DOIUrl":"https://doi.org/10.1093/noajnl/vdae084","url":null,"abstract":"\u0000 \u0000 \u0000 The treatment timing and choice after neurosurgical resection in patients with newly-diagnosed diffuse low-grade glioma (DLGG) remain controversial. Indeed, the effect of such treatments must be balanced with the possible side effects. This study evaluated the feasibility of longitudinal exhaustive quality of life (QoL) and neuropsychological assessments in patients with DLGG receiving first-line temozolomide.\u0000 \u0000 \u0000 \u0000 QoL, neurocognition and psychological disorders were assessed prospectively until disease progression, using testing, clinician-reported and self-reported questionnaires. The primary endpoint was the participation and adherence to this complete assessment at Baseline (before temozolomide initiation), month 6 and 12 of treatment and month 6 post-treatment. The QoL and neuropsychological changes over time also were described.\u0000 \u0000 \u0000 \u0000 Twenty-six of the 29 eligible patients were enrolled (participation rate: 89.7%, 95%CI 72.6-97.8). The adherence rate was 95.7% (95%CI 78.1-99.9; n=23 because 3 patients progressed in the first 12 months of treatment). Up to month 6 post-treatment, QoL and fatigue remained stable (EORTC QLQC30 and BN20, MFI-20); some specific symptoms were transitory. Both subjective (FACT-Cog) and objective (Z-scores of neurocognitive tests) neurocognitive outcomes remained stable or tended to improve. The percentage of patients with severe depression (BDI-II), anxiety (STAI-Y) or anger (STAXI-II) was stable over time.\u0000 \u0000 \u0000 \u0000 This prospective study demonstrated the feasibility of an exhaustive and longitudinal evaluation of QoL, neurocognition and psychological disorders, with high acceptability by patients with DLGG undergoing chemotherapy. First-line temozolomide seems to have limited short-term effects on QoL and neurocognition. These findings must be confirmed in the long-term and in a larger cohort.\u0000","PeriodicalId":19138,"journal":{"name":"Neuro-oncology Advances","volume":"3 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141266685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Medulloblastomas with ELP1 pathogenic variants: a weakly penetrant syndrome with a restricted spectrum in a limited age window 带有ELP1致病变体的髓母细胞瘤:一种弱渗透综合征,在有限的年龄窗口中具有受限的谱系
Neuro-oncology Advances Pub Date : 2024-05-15 DOI: 10.1093/noajnl/vdae075
L. Guerrini-Rousseau, J. Masliah-Planchon, Mathilde Filser, A. Tauziède-Espariat, N. Entz-Werlé, C. Maugard, Saskia M. J. Hopman, Jacob Torrejon, M. Gauthier‐Villars, F. Simaga, T. Blauwblomme, K. Beccaria, Etienne Rouleau, M. Dimaria, Jacques Grill, S. Abbou, B. Claret, L. Brugières, François Doz, Y. Bouchoucha, Cécile Faure-Conter, V. Bonadona, L. Mansuy, E. De Carli, O. Ingster, Clémentine Legrand, A. Pagnier, P. Berthet, D. Bodet, Sophie Julia, A. Bertozzi, Marjolaine Wilems, C. Maurage, Olivier Delattre, O. Ayrault, Christelle Dufour, F. Bourdeaut
{"title":"Medulloblastomas with ELP1 pathogenic variants: a weakly penetrant syndrome with a restricted spectrum in a limited age window","authors":"L. Guerrini-Rousseau, J. Masliah-Planchon, Mathilde Filser, A. Tauziède-Espariat, N. Entz-Werlé, C. Maugard, Saskia M. J. Hopman, Jacob Torrejon, M. Gauthier‐Villars, F. Simaga, T. Blauwblomme, K. Beccaria, Etienne Rouleau, M. Dimaria, Jacques Grill, S. Abbou, B. Claret, L. Brugières, François Doz, Y. Bouchoucha, Cécile Faure-Conter, V. Bonadona, L. Mansuy, E. De Carli, O. Ingster, Clémentine Legrand, A. Pagnier, P. Berthet, D. Bodet, Sophie Julia, A. Bertozzi, Marjolaine Wilems, C. Maurage, Olivier Delattre, O. Ayrault, Christelle Dufour, F. Bourdeaut","doi":"10.1093/noajnl/vdae075","DOIUrl":"https://doi.org/10.1093/noajnl/vdae075","url":null,"abstract":"\u0000 \u0000 \u0000 ELP1 pathogenic variants (PV) have been recently identified as the most frequent variants predisposing to Sonic hedgehog (SHH) medulloblastomas (MB); however, guidelines are still lacking for the genetic counselling in this new syndrome.\u0000 \u0000 \u0000 \u0000 We retrospectively reviewed clinical and genetic data of a French series of 29 ELP1-mutated MB.\u0000 \u0000 \u0000 \u0000 All patients developed SHH-MB, with a biallelic inactivation of PTCH1 found in 24 tumors. Other recurrent alterations encompassed the TP53 pathway and activation of MYCN/MYCL signaling. Median age at diagnosis was 7.3 years (range: 3-14). ELP1-mutated MB behave as sporadic cases, with similar distribution within clinical and molecular risk groups and similar outcomes (5y-OS = 86%); no unusual side effect of treatments was noticed. Remarkably, a germline ELP1 PV was identified in all patients with available constitutional DNA (n=26); moreover, all tested familial trio (n=11) revealed that the PVs were inherited. Two of the 26 index cases from the French series had a family history of MB; pedigrees from these patients and from one additional Dutch family suggested a weak penetrance. Apart from MB, no cancer was associated with ELP1 PVs; second tumors reported in 4 patients occurred within the irradiation fields, in usual time-lapse for expected radiotherapy-induced neoplasms.\u0000 \u0000 \u0000 \u0000 the low penetrance, the ‘at risk’ age window limited to childhood and the narrow tumor spectrum, question the actual benefit of genetic screening in these patients and their family. Our results suggest restricting ELP1 germline sequencing to patients with SHH-MB, depending on the parents’ request.\u0000","PeriodicalId":19138,"journal":{"name":"Neuro-oncology Advances","volume":"3 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140972841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical experiences and learning curves from robot-assisted neurosurgical biopsies with Stealth Autoguide™ 使用 Stealth Autoguide™ 进行机器人辅助神经外科活检的临床经验和学习曲线
Neuro-oncology Advances Pub Date : 2024-05-14 DOI: 10.1093/noajnl/vdae079
J. Ljungqvist, H. Barchéus, Fatima Abbas, A. Ozanne, D. Nilsson, A. Corell
{"title":"Clinical experiences and learning curves from robot-assisted neurosurgical biopsies with Stealth Autoguide™","authors":"J. Ljungqvist, H. Barchéus, Fatima Abbas, A. Ozanne, D. Nilsson, A. Corell","doi":"10.1093/noajnl/vdae079","DOIUrl":"https://doi.org/10.1093/noajnl/vdae079","url":null,"abstract":"\u0000 \u0000 \u0000 Biopsies of intracranial lesions is a cornerstone in the diagnosis of unresectable tumors to guide neurooncological treatment; however, the procedure is also associated with risks. The results from the cranial robot guidance system Stealth Autoguide™ were studied after introduction at a neurosurgical department. Primary aims include the presentation of clinical and radiological data, accuracy of radiological diagnosis, learning curves of the new technology, diagnostic yield, and precision. The secondary aim was to study complications.\u0000 \u0000 \u0000 \u0000 Retrospective data inclusion was performed on patients ≥18 years undergoing biopsy with Stealth Autoguide™ due to suspected brain tumor in the first three years after introduction of the technique. Data regarding clinical characteristics, intraoperative variables, pathological diagnosis, and complications were recorded. Analyses of learning curves were performed.\u0000 \u0000 \u0000 \u0000 A total of 79 procedures were performed on 78 patients with a mean age of 62 years (SD 12.7, range 23-82), 30.8% were female. Tumors were often multifocal (63.3%) and supratentorial (89.9%). The diagnostic yield was 87.3%. The first-hand radiological diagnosis was correct in 62.0%. A slight decrease in operation time was observed, although not significant. The surgeon contributed to 12% of the variability.\u0000 \u0000 \u0000 \u0000 Robot-assisted biopsies with Stealth Autoguide™ seem to be comparable, with regards to complications, to frame-based and other frame-less neurosurgical biopsies. Learning curves demonstrated no statistical differences in time of surgery and only 12% surgeon related variation (i.e. variation caused by change of performing surgeon), suggesting a successful implementation of this technical adjunct.\u0000","PeriodicalId":19138,"journal":{"name":"Neuro-oncology Advances","volume":"8 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140982063","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Recurrent FGFR3 fusion glioblastoma treated with pemigatinib: a case report and review of the literature 用培美加替尼治疗复发性FGFR3融合胶质母细胞瘤:病例报告和文献综述
Neuro-oncology Advances Pub Date : 2024-05-14 DOI: 10.1093/noajnl/vdae072
Yen-Ting Liu, Yi-Hsing Chen, Chen-Han Chang, Hsiang-Kuang Tony Liang
{"title":"Recurrent FGFR3 fusion glioblastoma treated with pemigatinib: a case report and review of the literature","authors":"Yen-Ting Liu, Yi-Hsing Chen, Chen-Han Chang, Hsiang-Kuang Tony Liang","doi":"10.1093/noajnl/vdae072","DOIUrl":"https://doi.org/10.1093/noajnl/vdae072","url":null,"abstract":"\u0000 This study presents an evaluation of pemigatinib, a selective inhibitor of FGFR1-3, in the management of recurrent FGFR3 fusion glioblastoma, underlining its potential as a precision therapy. Introduced in a 53-year-old man after standard therapies failed and genomic profiling identified an FGFR3-TACC3 fusion, pemigatinib induced a partial disease response and neurological improvement but also posed a financial burden. The case emphasizes the role of precision medicine in neuro-oncology, and supports further research into the integration of pemigatinib into glioblastoma treatment protocols.","PeriodicalId":19138,"journal":{"name":"Neuro-oncology Advances","volume":"71 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140979052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prolonged response to entrectinib in an adult patient with recurrent glioblastoma harboring a GOPC::ROS1 fusion 一名携带GOPC::ROS1融合基因的复发性胶质母细胞瘤成年患者对恩替利尼的长期应答
Neuro-oncology Advances Pub Date : 2024-05-11 DOI: 10.1093/noajnl/vdae077
G. Cerretti, M. Padovan, A. Guerriero, M. Maccari, A. Bosio, M. Caccese, Eugenia Cella, Giovanna Pintacuda, Giovanni Librizzi, G. Lombardi
{"title":"Prolonged response to entrectinib in an adult patient with recurrent glioblastoma harboring a GOPC::ROS1 fusion","authors":"G. Cerretti, M. Padovan, A. Guerriero, M. Maccari, A. Bosio, M. Caccese, Eugenia Cella, Giovanna Pintacuda, Giovanni Librizzi, G. Lombardi","doi":"10.1093/noajnl/vdae077","DOIUrl":"https://doi.org/10.1093/noajnl/vdae077","url":null,"abstract":"\u0000 Data on the use of targeted therapies in glioma are still limited and the identification of useful targetable mutations is still under investigation. Among all the relevant alterations identified through next generation sequencing (NGS) tests, ROS1 alterations can rarely be found in gliomas, and the most common of them is GOPC::ROS1 fusion. Targeted therapies, such as entrectinib, are available for such alterations. Hereby, the case of a patient affected by GOPC::ROS1 fused glioblastoma and treated with entrectinib is presented; this patient achieved a complete and prolonged response with no relevant toxicities from the treatment.","PeriodicalId":19138,"journal":{"name":"Neuro-oncology Advances","volume":" 693","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140989386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comparative evaluation of the diagnostic and prognostic performance of CNSide™ versus standard cytology for leptomeningeal disease 中枢神经系统侧™与标准细胞学对脑白质疾病诊断和预后效果的比较评估
Neuro-oncology Advances Pub Date : 2024-05-10 DOI: 10.1093/noajnl/vdae071
H. Appel, Muni Rubens, Mukesh Roy, R. Kotecha, Matthew D Hall, Minesh P. Mehta, A. Mohler, Zhijian Chen, Manmeet Ahluwalia, Y. Odia
{"title":"Comparative evaluation of the diagnostic and prognostic performance of CNSide™ versus standard cytology for leptomeningeal disease","authors":"H. Appel, Muni Rubens, Mukesh Roy, R. Kotecha, Matthew D Hall, Minesh P. Mehta, A. Mohler, Zhijian Chen, Manmeet Ahluwalia, Y. Odia","doi":"10.1093/noajnl/vdae071","DOIUrl":"https://doi.org/10.1093/noajnl/vdae071","url":null,"abstract":"\u0000 \u0000 \u0000 This retrospective study compares real-world performance of cerebrospinal fluid (CSF) CNSide™ versus cytology in leptomeningeal disease (LMD).\u0000 Methods: Consecutive patients with suspected LMD who underwent lumbar punctures for CSF cytology and CNSide™ from January 2020 to December 2022 were reviewed. LMD was classified by EANO criteria. Descriptive statistics, confusion matrix, Kaplan Meier curves, and Cox proportional regression were used.\u0000 \u0000 \u0000 \u0000 Median age for 87 evaluable patients was 63 years (range:23-93); 82 (94%) met EANO criteria for possible/probable/confirmed LMD (EANO/LMD). The commonest primary cancers were breast (36,44.0%) and lung (34,41.5%). Primary lung harbored actionable mutations in 18 (53.0%); primary breast expressed hormone receptors in 27 (75%) and HER2 amplification in 8 (22%). Uncontrolled systemic disease was detected in 35 (40%), while 25 (46%) received systemic therapy with medium/high CNS penetrance at LMD diagnosis. Median time from initial cancer to LMD diagnosis was 31 months (range:13-73). LMD was confirmed by CSF cytology in 23/82 (28%), all identified by CNSide™. CNSide™ identified 13 additional cases (36/82,43.9%), increasing diagnostic yield by 56.5%. Median overall survival (mOS) was 31 weeks (95%CI:21-43), significantly worse for CNSide™ positive versus negative: 4.0 versus 16.0 weeks, respectively (HR=0.50,p=0.010). While survival since LMD diagnosis did not differ by histology, time to LMD diagnosis from initial cancer diagnosis was longer for breast (48.5 months,IQR:30.0-87.5) versus lung (8 months,IQR:0.5-16.0) cohorts. mOS was longer for patients eligible for intrathecal chemotherapy (HR:0.189, 95%CI:0.053-0.672, p=0.010).\u0000 \u0000 \u0000 \u0000 This retrospective, real-world analysis of CNSide™ showed increased sensitivity versus cytology and provided clinically relevant molecular CSF analyses.\u0000","PeriodicalId":19138,"journal":{"name":"Neuro-oncology Advances","volume":" 21","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140990252","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effective re-induction regimen for children with recurrent medulloblastoma 治疗复发性髓母细胞瘤患儿的有效再诱导方案
Neuro-oncology Advances Pub Date : 2024-05-10 DOI: 10.1093/noajnl/vdae070
Katrina O'Halloran, S. Phadnis, Gregory K. Friedman, Katie Metrock, Tom B. Davidson, N. Robison, B. Tamrazi, Jennifer A Cotter, G. Dhall, A. Margol
{"title":"Effective re-induction regimen for children with recurrent medulloblastoma","authors":"Katrina O'Halloran, S. Phadnis, Gregory K. Friedman, Katie Metrock, Tom B. Davidson, N. Robison, B. Tamrazi, Jennifer A Cotter, G. Dhall, A. Margol","doi":"10.1093/noajnl/vdae070","DOIUrl":"https://doi.org/10.1093/noajnl/vdae070","url":null,"abstract":"\u0000 \u0000 \u0000 There is no standard treatment for recurrence of medulloblastoma, the most common malignant childhood brain tumor, and prognosis remains dismal. In this study, we introduce a regimen that is well-tolerated and effective at inducing remission.\u0000 \u0000 \u0000 \u0000 The primary objectives of this study were to assess tolerability of the regimen and overall response rate. A retrospective chart review of patients with recurrent medulloblastoma, treated at two institutions with a re-induction regimen of intravenous irinotecan and cyclophosphamide with oral temozolomide and etoposide, was performed. Demographic, clinicopathologic, toxicity and response data were collected and analyzed.\u0000 \u0000 \u0000 \u0000 Nine patients were identified. Median age was 5.75 years. Therapy was well-tolerated with no therapy-limiting toxicities and no toxic deaths. Successful stem cell collection was achieved in all five patients in whom it was attempted. Overall response rate after two cycles was 78%. Three patients had a complete response, four patients had a partial response, one patient had stable disease, and one patient had progressive disease. Four patients are alive with no evidence of disease (NED), two patients are alive with disease, two patients have died of disease, and one patient died of toxicity related to additional therapy (NED at time of death).\u0000 \u0000 \u0000 \u0000 This regimen is well-tolerated and effective. Tumor response was noted in the majority of cases, allowing patients to proceed to additional treatment with no or minimal disease. Further study of this regimen in a clinical trial setting is an important next step.\u0000","PeriodicalId":19138,"journal":{"name":"Neuro-oncology Advances","volume":" 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140991980","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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