Molecular Classification of Central Nervous System Tumors in Developing Countries.
Context.--In the past decade, central nervous system (CNS) tumor diagnosis has shifted toward molecular classification. Tools like DNA/RNA sequencing and methylation array analysis are now supportive tools, as reflected in the World Health Organization Classification of Tumours of the Central Nervou...
| Publicado en: | Archives of Pathology & Laboratory Medicine Vol. 150; no. 7; pp. 548 - 559 |
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| Autores principales: | , , , , |
| Formato: | algorithm pictorial research tables/charts Journal Article |
| Publicado: |
College of American Pathologists
Jul2026
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=195527029&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 195527029 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 00039985 1FS jtl: Archives of Pathology & Laboratory Medicine issn: 00039985 maglogo: N pubinfo: dt: Jul2026 vid: 150 iid: 7 pid: 2550 pub: College of American Pathologists place: Northfield, Illinois artinfo: ui: 195527029 195527029 195527029 10.5858/arpa.2025-0272-OA 195527029 ppf: 548 ppct: 11 formats: fmt: @attributes: type: P tig: atl: Molecular Classification of Central Nervous System Tumors in Developing Countries. aug: au: Fernandes, Igor Lima Abdullaev, Zied Quezado, Martha Aldape, Kenneth Bacchi, Carlos E. affil: Bacchi Laboratory, Botucatu, SP, Brazil sug: subj: Central Nervous System Neoplasms Classification Central Nervous System Neoplasms Diagnosis Developing Countries Pathology, Molecular DNA Methylation Clinical Laboratories, Reference Resource-Limited Settings Health Services Accessibility Costs and Cost Analysis Human Brazil Retrospective Design Tertiary Health Care Age Factors Sex Factors Benzopyrans Genome Wide Association Study Referral and Consultation Tumor Markers, Biological Turnaround Time Immunohistochemistry Funding Source ab: Context.--In the past decade, central nervous system (CNS) tumor diagnosis has shifted toward molecular classification. Tools like DNA/RNA sequencing and methylation array analysis are now supportive tools, as reflected in the World Health Organization Classification of Tumours of the Central Nervous System, 5th edition. However, implementing these sophisticated and costly methods remains challenging for health care services in most developing countries. Objective.--To report the implementation and utility of methylation array-based classification in CNS tumor cases at a Brazilian pathology reference laboratory, and to explore practical challenges and opportunities for achieving diagnostic precision in resource-constrained environments. Design.--This study analyzed 319 CNS tumor cases that underwent methylation analysis. Cases were stratified into 6 categories: (1) Methylation Confirms or Narrows Initial Diagnosis; (2) Diagnosis Modified by Methylation; (3) Diagnosis Confirmed With Molecular Subclassification; (4) Specification of Initially Descriptive Diagnosis; (5) Emerging Entities; and (6) Unclassified/Inconclusive. We analyzed diagnostic impact, costs, and turnaround time. Results.--DNA methylation profiling was successfully completed in most cases, with preanalytical failures mainly due to insufficient DNA quantity or quality. Turnaround time varied with regional logistics. Classifier outputs yielded confident matches for most cases. However, 47 cases (14.7% of cohort) produced "no match" results due to low confidence scores (≤0.30) or divergent classifier outputs. Additional testing was performed when available. Conclusions.--DNA methylation profiling improves diagnostic accuracy and reclassifies a meaningful proportion of brain tumor cases. Broad implementation requires evidence of cost-effectiveness, streamlined workflows, and capacity building, particularly in low- and middle-income settings. pubtype: Academic Journal doctype: algorithm pictorial research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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