Scholarlink

<p>Identifying molecular groups in medulloblastoma currently requires invasive biopsies for accurate diagnosis. We analyzed cerebrospinal fluid cell-free DNA (cfDNA) fragmentation patterns in 122 samples as a minimally-invasive alternative. Our analysis confirmed established group-specific copy number alterations and identified distinct fragmentation patterns for each group. Our integrated meta-classifier achieved high accuracy (mean-AUC 0.94) in distinguishing the four molecular groups, demonstrating cfDNA fragmentomics’ potential for improving diagnosis and personalized treatment strategies.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Genome-wide cfDNA fragmentation patterns in cerebrospinal fluid reflect medulloblastoma groups

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年8月12日

查看全文
  • Alexander L Markowitz,
  • Chetan Munugula,
  • Eirini Christodoulou,
  • Jianling Ji,
  • Liya Xu,
  • Jennifer A Cotter,
  • Venkata Yellapantula

摘要

Identifying molecular groups in medulloblastoma currently requires invasive biopsies for accurate diagnosis. We analyzed cerebrospinal fluid cell-free DNA (cfDNA) fragmentation patterns in 122 samples as a minimally-invasive alternative. Our analysis confirmed established group-specific copy number alterations and identified distinct fragmentation patterns for each group. Our integrated meta-classifier achieved high accuracy (mean-AUC 0.94) in distinguishing the four molecular groups, demonstrating cfDNA fragmentomics’ potential for improving diagnosis and personalized treatment strategies.