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<p>The role of chemotherapy in pleomorphic xanthoastrocytomas (PXA) remains unclear. Although molecular targeted therapy against the driver gene <i>BRAF</i> has been recently explored, evidence of its efficacy and post-treatment course is limited. Here, we present a case of grade 3 PXA that exhibited malignant progression following transient remission with <i>BRAF</i>-targeted therapy, accompanied by the emergence of multiple genetic alterations. A 22-year-old woman presented with a sudden headache and was diagnosed with a hemorrhagic lesion infiltrating the right temporal lobe and insula. Subtotal resection revealed grade 3 PXA. Conventional radiotherapy combined with temozolomide proved ineffective. After multigene panel testing (MGPT) identified <i>BRAF</i> V600E mutation, the patient underwent combination therapy with dabrafenib and trametinib. Although the residual tumor initially shrank significantly, recurrence occurred 16 months later. Despite salvage surgery and continued <i>BRAF</i>-targeted therapy, the tumor progressed, and the patient passed away 25 months after diagnosis. In-house MGPT of the recurrent tumor revealed <i>BRAF</i> amplification and other multiple abnormalities in the MAPK, TP53, RB, and mismatch repair pathways. This is the first reported case of multi-oncogenic pathway alterations following <i>BRAF</i>-targeted therapy in PXA. These genetic abnormalities likely contributed to the tumor’s drug resistance and aggressive progression in this case.</p>

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Comparative molecular analysis of primary and recurrent pleomorphic xanthoastrocytoma with BRAF mutation treated with combination therapy with dabrafenib and trametinib: a case report and literature review

  • 期刊论文

  • 发表日期：

    2025年8月16日

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  • Shoto Tateoka,
  • Takahiro Ono,
  • Junta Moroi,
  • Hajime Miyata,
  • Takuya Furuta,
  • Mayuko Moritsubo,
  • Hiroshi Nanjo,
  • Yoshitaka Narita,
  • Hiroaki Shimizu

摘要

The role of chemotherapy in pleomorphic xanthoastrocytomas (PXA) remains unclear. Although molecular targeted therapy against the driver gene BRAF has been recently explored, evidence of its efficacy and post-treatment course is limited. Here, we present a case of grade 3 PXA that exhibited malignant progression following transient remission with BRAF-targeted therapy, accompanied by the emergence of multiple genetic alterations. A 22-year-old woman presented with a sudden headache and was diagnosed with a hemorrhagic lesion infiltrating the right temporal lobe and insula. Subtotal resection revealed grade 3 PXA. Conventional radiotherapy combined with temozolomide proved ineffective. After multigene panel testing (MGPT) identified BRAF V600E mutation, the patient underwent combination therapy with dabrafenib and trametinib. Although the residual tumor initially shrank significantly, recurrence occurred 16 months later. Despite salvage surgery and continued BRAF-targeted therapy, the tumor progressed, and the patient passed away 25 months after diagnosis. In-house MGPT of the recurrent tumor revealed BRAF amplification and other multiple abnormalities in the MAPK, TP53, RB, and mismatch repair pathways. This is the first reported case of multi-oncogenic pathway alterations following BRAF-targeted therapy in PXA. These genetic abnormalities likely contributed to the tumor’s drug resistance and aggressive progression in this case.