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<p>We report a case where a <i>KRAS</i> G12V driver mutation was identified in cerebrospinal fluid (CSF) but not in peripheral blood cell-free DNA (cfDNA) in a patient with advanced lung adenocarcinoma and significant central nervous system involvement. A 67-year-old man presented with hemoptysis and was diagnosed with stage IVB TTF-1-positive lung adenocarcinoma with brain and bone metastases. Standard chemotherapy was ineffective. While cfDNA analysis detected only a <i>RAD21</i> mutation, CSF analysis revealed the <i>KRAS</i> G12V mutation. Despite the identification, no effective targeted therapy was available. This case highlights that CSF may be more suitable than peripheral blood cfDNA for detecting driver mutations in patients with predominant CNS lesions.</p>

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Driver mutation detected in cerebrospinal fluid despite negative liquid biopsy results

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年2月10日

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  • Kei Kunimasa,
  • Daisuke Aohara,
  • Kazumi Nishino

摘要

We report a case where a KRAS G12V driver mutation was identified in cerebrospinal fluid (CSF) but not in peripheral blood cell-free DNA (cfDNA) in a patient with advanced lung adenocarcinoma and significant central nervous system involvement. A 67-year-old man presented with hemoptysis and was diagnosed with stage IVB TTF-1-positive lung adenocarcinoma with brain and bone metastases. Standard chemotherapy was ineffective. While cfDNA analysis detected only a RAD21 mutation, CSF analysis revealed the KRAS G12V mutation. Despite the identification, no effective targeted therapy was available. This case highlights that CSF may be more suitable than peripheral blood cfDNA for detecting driver mutations in patients with predominant CNS lesions.