Brain Pathology最新文献

{"title":"Intraventricular mass in a 52-year-old woman.","authors":"Felix Mircea Brehar, Alexandra Mihaela Pătrășcan, Mihaela Andreescu, Laura-Gabriela Țîrlea, Sabina-Loredana-Georgiana Olteanu, Simon Schallenberg, Mihnea P Dragomir, George E D Petrescu","doi":"10.1111/bpa.70003","DOIUrl":"https://doi.org/10.1111/bpa.70003","url":null,"abstract":"","PeriodicalId":9290,"journal":{"name":"Brain Pathology","volume":" ","pages":"e70003"},"PeriodicalIF":5.8,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143596259","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":"Sterol imbalances and cholesterol-24-hydroxylase dysregulation is linked to the underlying progression of multiple sclerosis.","authors":"Lauren Griffiths, Kristen Hawkins, Eylan Yutuc, Roberto Angelini, Racheal Fosuah, Manuela Pacciarini, Alison Dickson, Neil Robertson, Laura Childs, Samantha Loveless, Emma Tallantyre, William J Griffiths, Yuqin Wang, Owain W Howell","doi":"10.1111/bpa.70001","DOIUrl":"https://doi.org/10.1111/bpa.70001","url":null,"abstract":"<p><p>Disability worsening in multiple sclerosis (MS) is linked to neurodegeneration. Cholesterol homeostasis is essential for normal brain function. CYP46A1, crucial for brain cholesterol turnover and reduced in some neurodegenerative diseases, is a potential neuroprotective target. We hypothesized that CYP46A1 is downregulated in MS brains and linked to cholesterol dysbalance. Mass spectrometric analysis of sterols was performed from matched plasma and cerebrospinal fluid (CSF) in an all-female MS cohort (n = 32, mean age = 33). Disability status was recorded at baseline and follow-up. MS brain tissue samples (n = 11; 7 females; ages 38-67; 10 Secondary Progressive MS, 1 Primary Progressive MS; Disease Duration: 13-49 years) and control samples (n = 8; 3 females; ages 41-68) analysed for pathological regions using mass spectrometry and RNA expression using in-situ hybridization. Significant dysregulation in 25-hydroxycholesterol, 27-hydroxycholesterol and 3β-hydroxycholestenoic acid in CSF correlated with disability at baseline and follow-up in the patient population. In brain tissue, reduced cholesterol, 24S-hydroxycholesterol and 24S,25-epoxycholesterol were observed in white matter lesions (p < 0.05), linked to CYP46A1 activity. CYP46A1 expression was enriched in neurons, with reductions in MS grey matter lesions and non-lesions compared to controls (p < 0.01). Cholesterol metabolism is dysregulated in MS and is associated with reduced neuron-specific CYP46A1 expression. Modulating CYP46A1, a druggable target, may benefit progressive MS.</p>","PeriodicalId":9290,"journal":{"name":"Brain Pathology","volume":" ","pages":"e70001"},"PeriodicalIF":5.8,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143566189","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 6-year-old female with synchronous cerebellar and thalamic masses.","authors":"Wenjun Luo, Cuiyun Sun, Zhendong Jiang, Rongju Zhang, Wengao Zhang, Shizhu Yu","doi":"10.1111/bpa.70005","DOIUrl":"https://doi.org/10.1111/bpa.70005","url":null,"abstract":"","PeriodicalId":9290,"journal":{"name":"Brain Pathology","volume":" ","pages":"e70005"},"PeriodicalIF":5.8,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143555895","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 16-year-old female with an intrasellar mass.","authors":"Yinbo Xiao, Can Yin, Junliang Lu, Shuangni Yu, Zhen Huo, Zhiyong Liang","doi":"10.1111/bpa.70002","DOIUrl":"https://doi.org/10.1111/bpa.70002","url":null,"abstract":"","PeriodicalId":9290,"journal":{"name":"Brain Pathology","volume":" ","pages":"e70002"},"PeriodicalIF":5.8,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143555885","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":"Validation of target-enriched enzymatic methylation sequencing for brain tumor classification from formalin-fixed paraffin embedded-derived DNA.","authors":"Quynh T Tran, Sujuan Jia, Md Zahangir Alom, Lu Wang, Charles G Mullighan, Ruth G Tatevossian, Brent A Orr","doi":"10.1111/bpa.70000","DOIUrl":"https://doi.org/10.1111/bpa.70000","url":null,"abstract":"<p><p>DNA methylation profiling by Illumina methylation array-based methods has revolutionized the molecular classification and diagnosis of brain tumors. A significant barrier to adopting these methods in a clinical environment is the requirement for specialized scanners, which results in high additional costs and a larger laboratory footprint. DNA sequencing-based alternatives are attractive because most clinical molecular pathology laboratories already use sequencers for other molecular assays. This study aimed to compare the utility of the newly developed sequencing-based enzymatic methyl sequencing (EM-seq) method paired with the Twist Human Methylome panel for brain tumor classification with standard Infinium Methylation BeadChip-based methods. We used DNA from fresh-frozen or formalin-fixed, paraffin-embedded (FFPE) brain cancer samples from 19 patients and 1 control sample to construct DNA libraries covering 3.98 million CpG sites. We developed and validated a bioinformatics pipeline to analyze target-enriched EM-seq (TEEM-seq) data in comparison with standard array-based methods for tumor classification and copy number profiling. We found high concordance between TEEM-seq and traditional methods, with high correlation coefficients (>0.98) between FFPE replicates. We successfully classified tumor samples into the expected molecular classes with robust prediction scores (>0.82). We observed that FFPE samples required a sequencing depth of at least 35x to achieve consistently high and reliable prediction scores. The TEEM-seq method has the potential to complement existing tumor classification methods and lower the barriers for the adoption of methylation profiling in routine clinical use.</p>","PeriodicalId":9290,"journal":{"name":"Brain Pathology","volume":" ","pages":"e70000"},"PeriodicalIF":5.8,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143522628","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":"Society News","authors":"Audrey Rousseau","doi":"10.1111/bpa.13333","DOIUrl":"https://doi.org/10.1111/bpa.13333","url":null,"abstract":"&lt;p&gt;&lt;b&gt;The ISN is looking for a group of young motivated neuropathologists&lt;/b&gt; to promote the specialty via the ISN website. If you are interested in participating, please contact Audrey Rousseau (&lt;span&gt;[email protected]&lt;/span&gt;) or Monika Hofer (&lt;span&gt;[email protected]&lt;/span&gt;).&lt;/p&gt;&lt;p&gt;&lt;b&gt;The International Congress of Neuropathology (ICN)&lt;/b&gt; will be held in Edinburgh, Scotland, in 2027 (ICN27). The Congress President will be Prof Colin Smith, and the ICN27 will be hosted by the British Neuropathological Society (BNS).&lt;/p&gt;&lt;p&gt;“On behalf of the British Neuropathological Society, I am delighted to extend a warm invitation to all our colleagues across the world to join us in Edinburgh for the International Congress of Neuropathology 2027. Edinburgh is an easily accessible center, surrounded by 1000 years of living history. We will develop a strong academic programme covering all aspects of neuropathology with world leading plenary speakers, supported by a social programme highlighting some of Edinburgh's historic charms. For those wishing to explore further, Edinburgh offers access to many of Scotland's highlights, be it touring the Highlands, sampling our famous whisky, or golfing on some of our picturesque courses. I do hope you will be able to join us for what I am sure will be a memorable meeting showcasing the best in international neuropathology.&lt;/p&gt;&lt;p&gt;Colin Smith.&lt;/p&gt;&lt;p&gt;Congress President ISN 2027”&lt;/p&gt;&lt;p&gt;Summary report for ICN23 Berlin (our most recent International Congress of Neuropathology, September 2023) now available in the Society's journal &lt;i&gt;Brain Pathology&lt;/i&gt; (see link: https://doi.org/10.1111/bpa.13249).&lt;/p&gt;&lt;p&gt;We are delighted to start the bidding process for holding the &lt;b&gt;2031 XXII International Congress of Neuropathology (ICN)&lt;/b&gt;. As you know, the 2027 XXI ICN Congress will be in Edinburgh and we now need to think ahead to 2031 and find a new home for our much-loved congress.&lt;/p&gt;&lt;p&gt;The Invitation Letter calling for bids and outlining the process can be found on the ISN website (www.intsocneuropathol.com). Please note that the deadline is the &lt;b&gt;March 1, 2025&lt;/b&gt;.&lt;/p&gt;&lt;p&gt;&lt;b&gt;&lt;i&gt;Brain Pathology has joined Wiley's Open Access&lt;/i&gt;&lt;/b&gt; portfolio as of January 2021. As a result, all submissions are subject to an Article Publication Charge (APC) if accepted and published in the journal. ISN members are eligible for a 10% discount of the Open Access APC. For more information on the fees, please click https://onlinelibrary.wiley.com/page/journal/17503639/article_publication_charges#:~:text=Brain%20Pathology%20is%20an%20Open,of%20CC%20license%20be%20used.&lt;/p&gt;&lt;p&gt;&lt;b&gt;Free resource: digital microscopy platform for neurodegenerative diseases curated in Munich&lt;/b&gt;. Prof Jochen Herms and his team have been setting up a digital microscopy platform for neurodegenerative diseases in their department in Munich. Registration is free. ISN members and interested colleagues are invited to use this resource, which will be particularly useful for teaching and","PeriodicalId":9290,"journal":{"name":"Brain Pathology","volume":"35 2","pages":""},"PeriodicalIF":5.8,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/bpa.13333","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143438732","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":"An 11-year-old boy with a posterior fossa tumor","authors":"Gina Del Vecchio,&nbsp;Sabina Barresi,&nbsp;Sara Patrizi,&nbsp;Claudia D'Orazio,&nbsp;Silvia Genovese,&nbsp;Isabella Giovannoni,&nbsp;Chantal Tancredi,&nbsp;Anne Falcou,&nbsp;Angela Mastronuzzi,&nbsp;Giovanna Stefania Colafati,&nbsp;Andrea Carai,&nbsp;Viola Alesi,&nbsp;Evelina Miele,&nbsp;Rita Alaggio,&nbsp;Sabrina Rossi","doi":"10.1111/bpa.13332","DOIUrl":"https://doi.org/10.1111/bpa.13332","url":null,"abstract":"&lt;p&gt;An 11-year-old boy was referred to our institution from a resource-limited country with a history of hydrocephalus secondary to a posterior fossa tumor. Magnetic resonance imaging (MRI) revealed a large extra-axial neoplasm located at the tentorium, measuring 5.1 × 4.2 × 4.0 cm (Figure 1), causing marked distortion of the adjacent structures and transtentorial herniation. The lesion was strongly enhancing, associated with massive vasogenic edema. Microsurgical excision of the lesion was performed by a supracerebellar infratentorial approach, obtaining a gross total resection. After recovery, the boy returned to his country, where he has been followed with periodical computed tomography scans. He remains free of disease 58 months from surgery (Box 1).&lt;/p&gt;&lt;p&gt;The lesion consisted of epithelioid and rhabdoid cells arranged in a chordoid pattern within a myxoid stroma (Figure 2A) with foci of collagen deposition sometimes featuring amianthoid fibers (Figure 2B). Solid sheets of rhabdoid and epithelioid cells with focal clear cell changes were also present. Mitotic figures were infrequent (1/1.96 mm&lt;sup&gt;2&lt;/sup&gt;). There was a sparse lymphoplasmocytic inflammatory infiltrate at the periphery. The possibility of a chordoid meningioma was first considered, and the expression of epithelial membrane antigen (EMA) seemed to support this hypothesis. However, given the rarity of this meningioma subtype and the lack of a specific marker, an extensive immunohistochemical panel was performed: the diffuse desmin expression, combined with focal CD99 and D2-40, prompted us to consider an intracranial mesenchymal tumor (IMT) with FET::CREB fusion (Figure 2C–E). RNA sequencing (Agilent) demonstrated the presence of a &lt;i&gt;SMARCA2::CREM&lt;/i&gt; transcript (Figure 2F). No pathogenic/likely pathogenic variants were identified (TSO500). CGH/SNP array revealed only a mosaic 12p trisomy. Genome-wide DNA methylation profiling classified the lesion as meningioma (score 0.98), subclass 3 (score 0.93) according to the Heidelberg Brain Tumor Classifier v12.5. t-distributed stochastic neighbor embedding (t-SNE) analysis was performed using selected Deutsches Krebsforschungszentrum (German Cancer Research Center) (DFKZ) reference classes and two previously characterized IMT cases, both harboring an &lt;i&gt;EWSR1::CREM&lt;/i&gt; fusion. The current case clustered with one of the IMT and was close to meningiomas, whereas the other IMT was near angiomatoid fibrous histiocytomas (Figure 2G).&lt;/p&gt;&lt;p&gt;IMT harboring a &lt;i&gt;SMARCA2::CREM&lt;/i&gt; fusion.&lt;/p&gt;&lt;p&gt;We describe a rare example of a pediatric posterior fossa IMT with a &lt;i&gt;SMARCA2::CREM&lt;/i&gt; fusion. A case with an identical fusion transcript has been reported in the parietal lobe of a 40-year-old man with a 15-year history of multiple recurrences of a “chordoid meningioma” [&lt;span&gt;1&lt;/span&gt;]. These cases share a striking chordoid morphology. IMT generally shows two main patterns: (i) stellate/spindle cells and abundant myxoid stroma preferentially character","PeriodicalId":9290,"journal":{"name":"Brain Pathology","volume":"35 2","pages":""},"PeriodicalIF":5.8,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/bpa.13332","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143438731","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":"Peripheral blood-derived immune cell counts as prognostic indicators and their relationship with DNA methylation subclasses in glioblastoma patients.","authors":"Benedikt Asey, Tobias F Pantel, Malte Mohme, Yahya Zghaibeh, Lasse Dührsen, Dana Silverbush, Ulrich Schüller, Richard Drexler, Franz L Ricklefs","doi":"10.1111/bpa.13334","DOIUrl":"https://doi.org/10.1111/bpa.13334","url":null,"abstract":"<p><p>Glioblastomas are known for their immunosuppressive tumor microenvironment, which may explain the failure of most clinical trials in the past decade. Recent studies have emphasized the significance of stratifying glioblastoma patients to predict better therapeutic responses and survival outcomes. This study aims to investigate the prognostic relevance of peripheral immune cell counts sampled prior to surgery, with a special focus on methylation-based subclassification. Peripheral blood was sampled in patients with newly diagnosed (n = 176) and recurrent (n = 41) glioblastoma at the time of surgery and analyzed for neutrophils, monocytes, leukocytes, platelets, neutrophil-lymphocyte ratio, lymphocyte-monocyte ratio, and platelet-lymphocyte ratio. Peripheral immune cell counts were correlated with patients' survival after combined radiochemotherapy. In addition, 850 k genome-wide DNA methylation was assessed on tissue for defining tumor subclasses and performing cell-type deconvolution. In newly diagnosed glioblastoma, patients with higher peripheral neutrophil counts had an unfavorable overall survival (OS) (p = 0.01, median overall-survival (mOS) 17.0 vs. 10.0 months). At the time of first recurrence, a significant decrease of peripheral immune cell counts was observed, and elevated monocyte (p = 0.03), neutrophil (p = 0.04), and platelet (p = 0.01) counts were associated with poorer survival outcomes. DNA methylation subclass-stratified analysis revealed a significant survival influence of neutrophils (p = 0.007) and lymphocytes (p = 0.04) in the mesenchymal (MES) subclass. Integrating deconvolution of matched tumor tissue showed that platelets and monocytes were correlated with a more differentiated, tumor-progressive cell state, and peripheral immune cell counts were most accurately reflected in tissue of the MES subclass. This study illustrates a restricted prognostic significance of peripheral immune cell counts in newly diagnosed glioblastoma and a constrained representation in matched tumor tissue, but it demonstrates a more pertinent situation at the time of recurrence and after DNA methylation-based stratification.</p>","PeriodicalId":9290,"journal":{"name":"Brain Pathology","volume":" ","pages":"e13334"},"PeriodicalIF":5.8,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143122191","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":"Brain-derived textiloma post glioblastoma resection and application of oxidized regenerated cellulose: A pilot, bedside-to-bench, translational study.","authors":"Joshua A Kra, Christopher Markosian, Fenny H F Tang, Ada Baisre de León, Anupama Chundury, Pankaj K Agarwalla, Daniela I Staquicini, Renata Pasqualini, Wadih Arap","doi":"10.1111/bpa.13331","DOIUrl":"https://doi.org/10.1111/bpa.13331","url":null,"abstract":"<p><p>Oxidized regenerated cellulose (ORC; marketed as Surgicel® and Tabotamp®) is routinely used as an intraoperative hemostatic agent. Rarely, residual ORC has been associated with a foreign body reaction generating cystic or granulomatous lesions (i.e., textilomas) at the surgical site. Here, we report a bedside-to-bench, translational report of an intracranial mass after neurosurgical resection of glioblastoma with ORC application. As part of patient care, we performed magnetic resonance imaging and histopathological analysis of the mass. We then performed in vitro studies to evaluate the effect of ORC on cytokine production and viability of BV-2 murine microglial cells by using quantitative PCR along with live cell microscopy and crystal violet staining, respectively. Magnetic resonance imaging demonstrated a recurrent mass pressing on the adjacent right ventricle, which was removed in a second surgery for diagnostic and therapeutic purposes. Unexpectedly, histopathological examination of the resected mass revealed abundant ORC arising from the site with inflammation, microglial activation, and collagenization. Mechanistically, we show an ORC-induced modest increase in inflammatory cytokines with a subsequent decrease in microglial cell viability. These findings suggest that ORC may mediate microglial immune response and viability, and serve to raise awareness and guide interpretation of post-treatment surveillance imaging findings in the instance of foreign body reaction.</p>","PeriodicalId":9290,"journal":{"name":"Brain Pathology","volume":" ","pages":"e13331"},"PeriodicalIF":5.8,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143000542","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":"Resource availability for CNS tumor diagnostics in the Asian Oceanian region: A survey by the Asian Oceanian Society of Neuropathology committee for Adapting Diagnostic Approaches for Practical Taxonomy in Resource-Restrained Regions (AOSNP-ADAPTR).","authors":"Chitra Sarkar, Shilpa Rao, Vani Santosh, Maysa Al-Hussaini, Sung Hye Park, Tarik Tihan, Michael E Buckland, Ho-Keung Ng, Takashi Komori","doi":"10.1111/bpa.13329","DOIUrl":"https://doi.org/10.1111/bpa.13329","url":null,"abstract":"<p><p>The shift toward a histo-molecular approach in World Health Organization classification of central nervous system tumors (WHO CNS5) emphasizes the critical role of molecular testing, such as next-generation sequencing (NGS) and DNA methylation profiling, for accurate diagnosis. However, implementing these advanced techniques is particularly challenging in resource-constrained countries. To address this, the Asian Oceanian Society of Neuropathology committee for Adapting Diagnostic Approaches for Practical Taxonomy in Resource-Restrained Regions (AOSNP-ADAPTR) was initiated to help pathologists in resource-limited regions to implement WHO CNS5 diagnoses using simpler diagnostic tools, mainly immunohistochemistry. An online survey by this group assessed the in-house/local availability of diagnostic resources and outsourcing capabilities across the Asian Oceanian region, covering 19 countries. Of 318 responding centers, the availability of molecular techniques in-house/locally was limited in lower middle-income countries (LMICs), with 29% having fluorescence in situ hybridization, 10.7% Sanger sequencing, and only 9.4% NGS. DNA methylation was largely unavailable in-house/locally in of LMICs, while in the whole region, its availability stood at a meager 4.4%. Though outsourcing for all diagnostic tests was an easily accessible alternative, outsourcing for NGS and DNA methylation was uncommon because of the financial burden on patients being a significant obstacle. The survey categorized centers into five resource levels (RLs) based on the in-house/local access to diagnostic techniques, which highlighted the variability and disparity in diagnostic capabilities across the region. High-income countries had 80% of centers with advanced RL IV, V resources, in contrast to LMICs, where 70.5% of centers fell into RL I-III. This comprehensive evaluation emphasizes the need for tailored resource level guidelines, with the aim of improving diagnostic accuracy and treatment as well as advocating better healthcare infrastructure in resource-constrained areas. However, the survey's reliance on responses from better-resourced centers may underestimate challenges in lower-resource settings, stressing the need for broader outreach and support.</p>","PeriodicalId":9290,"journal":{"name":"Brain Pathology","volume":" ","pages":"e13329"},"PeriodicalIF":5.8,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143000543","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}