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<p>Seizures are a common presenting symptom in astrocytomas, yet the underlying genomic drivers remain incompletely understood. We performed whole-exome sequencing on tumor tissue from 40 patients with astrocytoma (25 with preoperative seizures, 15 without) to explore somatic mutation profiles associated with seizure occurrence. Clinical characteristics, including age, tumor location, volume, and IDH mutation status, did not significantly differ between seizure and non-seizure groups. In the overall cohort, nine genes showed nominal associations with seizures, but none remained significant following correction for multiple comparisons. Stratification by IDH status revealed that CELSR1 mutations were significantly enriched in the seizure group among IDH-wildtype astrocytomas/glioblastomas (6/19 [31.6%] vs. 0/10 [0%], <i>p</i> = 0.028, OR = ∞), whereas GSTT4 and other candidate genes lost association in subgroup analyses. CELSR1, a core component of the planar cell polarity pathway, represents a novel candidate gene potentially contributing to tumor-associated epilepsy in IDH-wildtype disease. These findings highlight the importance of molecular subgrouping and warrant validation in larger cohorts and functional studies of CELSR1 in epileptogenesis.</p>

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New candidate gene mutations in astrocytoma with seizures

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月29日

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  • Pongsakorn Choochuen,
  • Natthapon Khongcharoen,
  • Surasak Sangkhathat,
  • Anukoon Kaewborisutsakul,
  • Thara Tunthanathip,
  • Kanitpong Phabphal

摘要

Seizures are a common presenting symptom in astrocytomas, yet the underlying genomic drivers remain incompletely understood. We performed whole-exome sequencing on tumor tissue from 40 patients with astrocytoma (25 with preoperative seizures, 15 without) to explore somatic mutation profiles associated with seizure occurrence. Clinical characteristics, including age, tumor location, volume, and IDH mutation status, did not significantly differ between seizure and non-seizure groups. In the overall cohort, nine genes showed nominal associations with seizures, but none remained significant following correction for multiple comparisons. Stratification by IDH status revealed that CELSR1 mutations were significantly enriched in the seizure group among IDH-wildtype astrocytomas/glioblastomas (6/19 [31.6%] vs. 0/10 [0%], p = 0.028, OR = ∞), whereas GSTT4 and other candidate genes lost association in subgroup analyses. CELSR1, a core component of the planar cell polarity pathway, represents a novel candidate gene potentially contributing to tumor-associated epilepsy in IDH-wildtype disease. These findings highlight the importance of molecular subgrouping and warrant validation in larger cohorts and functional studies of CELSR1 in epileptogenesis.