Neuro-oncology practice最新文献

{"title":"Depression and anxiety in glioma patients.","authors":"Pim B van der Meer, Linda Dirven, Caroline Hertler, Florien W Boele, Albert Batalla, Tobias Walbert, Alasdair G Rooney, Johan A F Koekkoek","doi":"10.1093/nop/npad019","DOIUrl":"10.1093/nop/npad019","url":null,"abstract":"<p><p>AbstractGlioma patients carry the burden of having both a progressive neurological disease and cancer, and may face a variety of symptoms, including depression and anxiety. These symptoms are highly prevalent in glioma patients (median point prevalence ranging from 16-41% for depression and 24-48% for anxiety when assessed by self-report questionnaires) and have a major impact on health-related quality of life and even overall survival time. A worse overall survival time for glioma patients with depressive symptoms might be due to tumor progression and/or its supportive treatment causing depressive symptoms, an increased risk of suicide or other (unknown) factors. Much is still unclear about the etiology of depressive and anxiety symptoms in glioma. These psychiatric symptoms often find their cause in a combination of neurophysiological and psychological factors, such as the tumor and/or its treatment. Although these patients have a particular idiosyncrasy, standard treatment guidelines for depressive and anxiety disorders apply, generally recommending psychological and pharmacological treatment. Only a few nonpharmacological trials have been conducted evaluating the efficacy of psychological treatments (eg, a reminiscence therapy-based care program) in this population, which significantly reduced depressive and anxiety symptoms. No pharmacological trials have been conducted in glioma patients specifically. More well-designed trials evaluating the efficacy of nonpharmacological treatments for depressive and anxiety disorders in glioma are urgently needed to successfully treat psychiatric symptoms in brain tumor patients and to improve (health-related) quality of life.</p>","PeriodicalId":19234,"journal":{"name":"Neuro-oncology practice","volume":"10 4","pages":"335-343"},"PeriodicalIF":2.4,"publicationDate":"2023-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/8c/c7/npad019.PMC10346395.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10098814","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}

{"title":"Forthcoming Meetings","authors":"","doi":"10.1093/nop/npad034","DOIUrl":"https://doi.org/10.1093/nop/npad034","url":null,"abstract":"","PeriodicalId":19234,"journal":{"name":"Neuro-oncology practice","volume":"13 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135077959","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}

{"title":"Association between preoperative neurocognitive status and IDH1 mutation status in high-grade gliomas.","authors":"Evangelia Liouta,&nbsp;Aristotelis V Kalyvas,&nbsp;Spyridon Komaitis,&nbsp;Evangelos Drosos,&nbsp;Christos Koutsarnakis,&nbsp;Juan M García-Gómez,&nbsp;Javier Juan-Albarracín,&nbsp;Vasileios Katsaros,&nbsp;Theodosis Kalamatianos,&nbsp;Theodoros Argyrakos,&nbsp;George Stranjalis","doi":"10.1093/nop/npac077","DOIUrl":"https://doi.org/10.1093/nop/npac077","url":null,"abstract":"<p><strong>Background: </strong>High-grade glioma (HGG) patients present with variable impairment in neurocognitive function (NCF). Based on that, isocitrate dehydrogenase 1 (IDH1) wild-type HGGs are more aggressive than IDH1 mutant-type ones, we hypothesized that patients with IDH1 wild-type HGG would exhibit more severe NCF deficits than their IDH1 mutant counterparts.</p><p><strong>Methods: </strong>NCF was assessed by Mini Mental Status Exam (MMSE), Trail Making Test (TMT), Digit Span (DS), and Controlled Word Association Test (COWAT) tests in 147 HGG patients preoperatively.</p><p><strong>Results: </strong>Analyses between IDH1 groups revealed a significant difference on MMSE concentration component (<i>p</i> ≤ .01), DS (<i>p</i> ≤ .01), TMTB (<i>p</i> ≤ .01), and COWAT (<i>p</i> ≤ .01) scores, with the IDH1 wild group performing worse than the IDH1 mutant one. Age and tumor volume were inversely correlated with MMSE concentration component (<i>r</i> = -4.78, <i>p</i> < .01), and with MMSE concentration (<i>r</i> = -.401, <i>p</i> < .01), TMTB (<i>r</i> = -.328, <i>p</i> < .01), and COWAT phonemic scores (<i>r</i> = -.599, <i>p</i> < .01), respectively, but only for the IDH1 wild-type group. Analyses between age-matched subsamples of IDH1 groups revealed no age effect on NCF. Tumor grade showed nonsignificance on NCF (<i>p</i> > .05) between the 2 IDH1 mutation subgroups of grade IV tumor patients. On the contrary, grade III group showed a significant difference in TMTB (<i>p</i> < .01) and DS backwards (<i>p</i> < .01) between IDH1 subgroups, with the mutant one outperforming the IDH1 wild one.</p><p><strong>Conclusions: </strong>Our findings indicate that IDH1 wild-type HGG patients present greater NCF impairment, in executive functions particularly, compared to IDH1 mutant ones, suggesting that tumor growth kinetics may play a more profound role than other tumor and demographic parameters in clinical NCF of HGG patients.</p>","PeriodicalId":19234,"journal":{"name":"Neuro-oncology practice","volume":"10 2","pages":"132-139"},"PeriodicalIF":2.7,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10037936/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9246419","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}

{"title":"Review of 20 years of adult medulloblastoma treatment: Chemotherapy prescription trends and survival.","authors":"Marissa Sherwood,&nbsp;Seth Climans,&nbsp;Ronald Ramos,&nbsp;Normand J Laperriere,&nbsp;Andrew F Gao,&nbsp;Barbara-Ann Millar,&nbsp;David B Shultz,&nbsp;Derek S Tsang,&nbsp;Warren P Mason","doi":"10.1093/nop/npac074","DOIUrl":"https://doi.org/10.1093/nop/npac074","url":null,"abstract":"<p><strong>Background: </strong>The historic standard of care for adult medulloblastoma has been considered surgery and radiation, while chemotherapy is increasingly being prescribed. This study reviewed 20-year chemotherapy trends at a high-volume center, as well as overall and progression free-survival.</p><p><strong>Methods: </strong>Adults with medulloblastoma treated at an academic center from January 1, 1999 to -December 31, 2020 were reviewed. Patient baseline data were summarized and Kaplan-Meier estimators were used for survival.</p><p><strong>Results: </strong>Forty-nine patients were included; median age was 30 years and male: female ratio was 2:1. Desmoplastic and classical histologies were most common. Of all patients, 23 (47%) were high risk and 7 (14%) metastatic at diagnosis. Only 10 (20%) received initial chemotherapy, of which 70% were high risk and 30% metastatic, with most treated from 2010 to 2020. Forty percent of initial chemotherapy patients received salvage chemotherapy for recurrence or metastases (of all patients, 49% required salvage). Initial chemotherapy regimens were mainly cisplatin/lomustine/vincristine, and at recurrence cisplatin/etoposide. Median overall survival was 8.6 years (95% CI 7.5-∞), with 1-, 5-, and 10-year survival at 95.8%, 72%, and 46.7%. Median overall survival for those who did not receive initial chemotherapy was 12.4 years and 7.4 years for those who did (<i>P</i>-value .2).</p><p><strong>Conclusions: </strong>Twenty years of adult medulloblastoma treatment was reviewed. Initial chemotherapy patients, most of whom were high risk, trended towards worse survival, but this was nonsignificant. The ideal timing and choice of chemotherapy for adult medulloblastoma is unknown-challenges of administering chemotherapy following photon craniospinal irradiation may have prevented it from becoming routine.</p>","PeriodicalId":19234,"journal":{"name":"Neuro-oncology practice","volume":"10 2","pages":"186-194"},"PeriodicalIF":2.7,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10037945/pdf/npac074.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10288581","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}

{"title":"The predictive value of partial <i>MGMT</i> promoter methylation for IDH-wild-type glioblastoma patients.","authors":"Matthew Torre,&nbsp;Patrick Y Wen,&nbsp;J Bryan Iorgulescu","doi":"10.1093/nop/npac070","DOIUrl":"https://doi.org/10.1093/nop/npac070","url":null,"abstract":"<p><strong>Background: </strong>Glioblastoma patients with hypermethylation of the O⁶-methylguanine-methyltransferase (<i>MGMT</i>) gene promoter have significantly improved survival when treated with temozolomide compared to patients with unmethylation of the <i>MGMT</i> promoter. However, the prognostic and predictive significance of partial <i>MGMT</i> promoter methylation is unclear.</p><p><strong>Methods: </strong>The National Cancer Database was queried for patients newly diagnosed in 2018 with histopathologically confirmed isocitrate dehydrogenase (IDH)-wildtype glioblastoma. The overall survival (OS) associated with <i>MGMT</i> promoter methylation status was assessed using multivariable Cox regression with Bonferroni correction for multiple testing (<i>P</i> < .008 was significant).</p><p><strong>Results: </strong>Three thousand eight hundred twenty-five newly diagnosed IDH-wildtype glioblastoma patients were identified. The <i>MGMT</i> promoter was unmethylated in 58.7% (<i>n</i> = 2245), partially methylated in 4.8% (<i>n</i> = 183), hypermethylated in 3.5% (<i>n</i> = 133), and methylated not otherwise specified (NOS; likely consisting predominantly of hypermethylated cases) in 33.0% (<i>n</i> = 1264) of cases. Among patients that received first-line single-agent chemotherapy (ie likely temozolomide), compared to partial methylation (referent), <i>MGMT</i> promoter unmethylation was associated with worse OS (hazard ratio [HR] 1.94; 95% confidence interval [95 CI]: 1.54-2.44; <i>P</i> < .001) in multivariable Cox regression adjusted for major prognostic confounders. In contrast, a significant OS difference was not observed between partially methylated promoters and either hypermethylated (HR 1.02; 95 CI: 0.72-1.46; <i>P</i> = .90) or methylated NOS (HR 0.99; 95 CI: 0.78-1.26; <i>P</i> = .93) promoters. Among IDH-wildtype glioblastoma patients who did not receive first-line chemotherapy, <i>MGMT</i> promoter methylation status was not associated with significant differences in OS (<i>P</i> = 0.39-0.83).</p><p><strong>Conclusions: </strong>Compared to <i>MGMT</i> promoter unmethylation, partial methylation was predictive of improved OS among IDH-wildtype glioblastoma patients treated with first-line single-agent chemotherapy-supporting the use of temozolomide therapy in these patients.</p>","PeriodicalId":19234,"journal":{"name":"Neuro-oncology practice","volume":"10 2","pages":"126-131"},"PeriodicalIF":2.7,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10037633/pdf/npac070.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10193594","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}

{"title":"Incidental diffuse low-grade gliomas: A systematic review and meta-analysis of treatment results with correction of lead-time and length-time biases.","authors":"Satoshi Nakasu,&nbsp;Yoko Nakasu,&nbsp;Atsushi Tsuji,&nbsp;Tadateru Fukami,&nbsp;Naoki Nitta,&nbsp;Hiroto Kawano,&nbsp;Akifumi Notsu,&nbsp;Kazuhiko Nozaki","doi":"10.1093/nop/npac073","DOIUrl":"https://doi.org/10.1093/nop/npac073","url":null,"abstract":"<p><strong>Background: </strong>Better overall survival (OS) reported in patients with incidental diffuse low-grade glioma (iLGG) in comparison to symptomatic LGG (sLGG) may be overestimated by lead-time and length-time.</p><p><strong>Methods: </strong>We performed a systematic review and meta-analysis of studies on adult hemispheric iLGGs according to the PRISMA statement to adjust for biases in their outcomes. Survival data were extracted from Kaplan-Meier curves. Lead-time was estimated by 2 methods: Pooled data of time to become symptomatic (LTs) and time calculated from the tumor growth model (LTg).</p><p><strong>Results: </strong>We selected articles from PubMed, Ovid Medline, and Scopus since 2000. Five compared OS between patients with iLGG (<i>n</i> = 287) and sLGG (<i>n</i> = 3117). The pooled hazard ratio (pHR) for OS of iLGG to sLGG was 0.40 (95% confidence interval [CI] {0.27-0.61}). The estimated mean LTs and LTg were 3.76 years (<i>n</i> = 50) and 4.16-6.12 years, respectively. The corrected pHRs were 0.64 (95% CI [0.51-0.81]) by LTs and 0.70 (95% CI [0.56-0.88]) by LTg. In patients with total removal, the advantage of OS in iLGG was lost after the correction of lead-time. Patients with iLGG were more likely to be female pooled odds ratio (pOR) 1.60 (95% CI [1.25-2.04]) and have oligodendrogliomas (pOR 1.59 [95% CI {1.05-2.39}]). Correction of the length-time bias, which increased the pHR by 0.01 to 0.03, preserved the statistically significant difference in OS.</p><p><strong>Conclusions: </strong>The reported outcome in iLGG was biased by lead-time and length-time. Although iLGG had a longer OS after correction of biases, the difference was less than previously reported.</p>","PeriodicalId":19234,"journal":{"name":"Neuro-oncology practice","volume":"10 2","pages":"113-125"},"PeriodicalIF":2.7,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10037942/pdf/npac073.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10661356","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}

{"title":"Neurosurgical care for patients with high-grade gliomas during the coronavirus disease 2019 pandemic: Analysis of routine billing data of a German nationwide hospital network.","authors":"Ruediger Gerlach, Julius Dengler, Andreas Bollmann, Michael Stoffel, Farid Youssef, Barbara Carl, Steffen Rosahl, Yu-Mi Ryang, Jorge Terzis, Rudolf Kristof, Thomas Westermaier, Ralf Kuhlen, Andreas Steinbrecher, Vincent Pellissier, Sven Hohenstein, Oliver Heese","doi":"10.1093/nop/npad015","DOIUrl":"10.1093/nop/npad015","url":null,"abstract":"<p><strong>Background: </strong>Little is known about delivery of neurosurgical care, complication rate and outcome of patients with high-grade glioma (HGG) during the coronavirus disease 2019 (Covid-19) pandemic.</p><p><strong>Methods: </strong>This observational, retrospective cohort study analyzed routine administrative data of all patients admitted for neurosurgical treatment of an HGG within the Helios Hospital network in Germany. Data of the Covid-19 pandemic (March 1, 2020-May 31, 2022) were compared to the pre-pandemic period (January 1, 2016-February 29, 2020). Frequency of treatment and outcome (in-hospital mortality, length of hospital stay [LOHS], time in intensive care unit [TICU] and ventilation outside the operating room [OR]) were separately analyzed for patients with microsurgical resection (MR) or stereotactic biopsy (STBx).</p><p><strong>Results: </strong>A total of 1763 patients underwent MR of an HGG (648 patients during the Covid-19 pandemic; 1115 patients in the pre-pandemic period). 513 patients underwent STBx (182 [pandemic]; 331 patients [pre-pandemic]). No significant differences were found for treatment frequency (MR: 2.95 patients/week [Covid-19 pandemic] vs. 3.04 patients/week [pre-pandemic], IRR 0.98, 95% CI: 0.89-1.07; STBx (1.82 [Covid-19 pandemic] vs. 1.86 [pre-pandemic], IRR 0.96, 95% CI: 0.80-1.16, <i>P</i> > .05). Rates of in-hospital mortality, infection, postoperative hemorrhage, cerebral ischemia and ventilation outside the OR were similar in both periods. Overall LOHS was significantly shorter for patients with MR and STBx during the Covid-19 pandemic.</p><p><strong>Conclusions: </strong>The Covid-19 pandemic did not affect the frequency of neurosurgical treatment of patients with an HGG based on data of a large nationwide hospital network in Germany. LOHS was significantly shorter but quality of neurosurgical care and outcome was not altered during the Covid-19 pandemic.</p>","PeriodicalId":19234,"journal":{"name":"Neuro-oncology practice","volume":"10 5","pages":"429-436"},"PeriodicalIF":2.7,"publicationDate":"2023-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10502769/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10672512","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}

{"title":"Society News","authors":"","doi":"10.1093/nop/npad011","DOIUrl":"https://doi.org/10.1093/nop/npad011","url":null,"abstract":"Journal Article Society News Get access Neuro-Oncology Practice, Volume 10, Issue 2, April 2023, Page 214, https://doi.org/10.1093/nop/npad011 Published: 24 March 2023 Article history Corrected and typeset: 24 March 2023 Published: 24 March 2023","PeriodicalId":19234,"journal":{"name":"Neuro-oncology practice","volume":"13 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136126057","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}

{"title":"Assessing the reporting quality of adult neuro-oncology protocols, abstracts, and trials: Adherence to the SPIRIT and CONSORT statements.","authors":"Joshua S Suppree, Avni Patel, Sumirat M Keshwara, Sandhya Trichinopoly Krishna, Conor S Gillespie, George E Richardson, Mohammad A Mustafa, Sophia Hart, Abdurrahman I Islim, Michael D Jenkinson, Christopher P Millward","doi":"10.1093/nop/npad017","DOIUrl":"10.1093/nop/npad017","url":null,"abstract":"<p><strong>Background: </strong>Comprehensive and transparent reporting of clinical trial activity is important. The Standard Protocol Items: Recommendations for Interventional Trials (SPIRIT) 2013 and Consolidated Standards of Reporting Trials (CONSORT) 2010 statements define the items to be reported in clinical trial protocols and randomized controlled trials, respectively. The aim of this methodological review was to assess the reporting quality of adult neuro-oncology trial protocols and trial result articles.</p><p><strong>Methods: </strong>Adult primary and secondary brain tumor phase 3 trial protocols and result articles published after the introduction of the SPIRIT 2013 statement, were identified through searches of 4 electronic bibliographic databases. Following extraction of baseline demographic data, the reporting quality of independently included trial protocols and result articles was assessed against the SPIRIT and CONSORT statements respectively. The CONSORT-A checklist, an extension of the CONSORT 2010 statement, was used to specifically assess the abstract accompanying the trial results article. Percentage adherence (standard deviation [SD]) was calculated for each article.</p><p><strong>Results: </strong>Seven trial protocols, and 36 trial result articles were included. Mean adherence of trial protocols to the SPIRIT statement was 79.4% (SD: 0.11). Mean adherence of trial abstracts to CONSORT-A was 75.3% (SD: 0.12) and trial result articles to CONSORT was 74.5% (SD: 0.10).</p><p><strong>Conclusion: </strong>The reporting quality of adult neuro-oncology trial protocols and trial result articles requires improvement to ensure comprehensive and transparent communication of planned neuro-oncology clinical trials and results within the literature. Raising awareness by clinical triallists and implementing mandatory evidence of proof of adherence by journals should improve reporting quality.</p>","PeriodicalId":19234,"journal":{"name":"Neuro-oncology practice","volume":"10 4","pages":"391-401"},"PeriodicalIF":2.7,"publicationDate":"2023-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10346400/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10184113","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}

{"title":"DICER1-associated central nervous system sarcoma: A comprehensive clinical and genomic characterization of case series of young adult patients.","authors":"Andrés F Cardona, Diego Fernando Chamorro Ortiz, Alejandro Ruíz-Patiño, Diego Gomez, Álvaro Muñoz, Dora V Ardila, Juan Esteban Garcia-Robledo, Camila Ordóñez-Reyes, Liliana Sussmann, Andrés Mosquera, Yency Forero, Leonardo Rojas, Fernando Hakim, Enrique Jimenez, Juan Fernando Ramón, Hernando Cifuentes, Diego Pineda, Juan Armando Mejía, July Rodríguez, Pilar Archila, Carolina Sotelo, Darwin A Moreno-Pérez, Oscar Arrieta","doi":"10.1093/nop/npad014","DOIUrl":"10.1093/nop/npad014","url":null,"abstract":"<p><strong>Background: </strong><i>DICER1</i> alterations are associated with intracranial tumors in the pediatric population, including pineoblastoma, pituitary blastoma, and the recently described \"primary <i>DICER1</i>-associated CNS sarcoma\" (DCS). DCS is an extremely aggressive tumor with a distinct methylation signature and a high frequency of co-occurring mutations. However, little is known about its treatment approach and the genomic changes occurring after exposure to chemoradiotherapy.</p><p><strong>Methods: </strong>We collected clinical, histological, and molecular data from eight young adults with DCS. Genomic analysis was performed by Next-generation Sequencing (NGS). Subsequently, an additional germline variants analysis was completed. In addition, an NGS analysis on post-progression tumor tissue or liquid biopsy was performed when available. Multiple clinicopathological characteristics, treatment variables, and survival outcomes were assessed.</p><p><strong>Results: </strong>Median age was 20 years. Most lesions were supratentorial. Histology was classified as fusiform cell sarcomas (50%), undifferentiated (unclassified) sarcoma (37.5%), and chondrosarcoma (12.5%). Germline pathogenic <i>DICER1</i> variants were present in two patients, 75% of cases had more than one somatic alteration in <i>DICER1</i>, and the most frequent commutation was <i>TP53</i>. Seven patients were treated with surgery, Ifosfamide, Cisplatin, and Etoposide (ICE) chemotherapy and radiotherapy. The objective response was 75%, and the median time to progression (TTP) was 14.5 months. At progression, the most common mutations were in <i>KRAS</i> and <i>NF1</i>. Overall survival was 30.8 months.</p><p><strong>Conclusions: </strong>DCS is an aggressive tumor with limited therapeutic options that requires a comprehensive diagnostic approach, including molecular characterization. Most cases had mutations in <i>TP53</i>, <i>NF1</i>, and <i>PTEN,</i> and most alterations at progression were related to <i>MAPK</i>, <i>RAS</i> and <i>PI3K</i> signaling pathways.</p>","PeriodicalId":19234,"journal":{"name":"Neuro-oncology practice","volume":"10 4","pages":"381-390"},"PeriodicalIF":2.7,"publicationDate":"2023-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10346402/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9816642","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}