Scholarlink

<p>Spindle cell mesenchymal neoplasms comprise a heterogeneous group of tumors, with recent molecular advances uncovering novel pathogenic mechanisms. We report the case of a 22-year-old woman presenting with progressive dyspnea. A computed tomography (CT) scan revealed a solid mass located in the right cardiophrenic angle. Histological examination showed a spindle cell neoplasm composed of medium-sized, elongated cells with scant eosinophilic cytoplasm, arranged in storiform and whorled patterns. Immunohistochemical staining was negative for lineage-specific markers. Fluorescence in situ hybridization (FISH) detected an <i>EWSR1</i> gene rearrangement in 15% of the neoplastic cells, and RNA sequencing demonstrated a novel <i>EWSR1::HOXB8</i> fusion. This case highlights the relevance of <i>EWSR1</i>-driven fusions in spindle cell mesenchymal neoplasms and emphasizes the need for further exploration into their clinical and biological behavior. After 5 months of chemotherapy, the patient showed moderate clinical improvement.</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

Novel EWSR1::HOXB8 fusion identified in a rare spindle cell sarcoma of a young woman

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年2月20日

查看全文
  • Alessandro Cioce,
  • Sabina Barresi,
  • Sara Patrizi,
  • Stefano Lucà,
  • Alfonso Fiorelli,
  • Lucia Cannella,
  • Emma Rullo,
  • Evelina Miele,
  • Salvatore Tafuto,
  • Renato Franco,
  • Rita Alaggio

摘要

Spindle cell mesenchymal neoplasms comprise a heterogeneous group of tumors, with recent molecular advances uncovering novel pathogenic mechanisms. We report the case of a 22-year-old woman presenting with progressive dyspnea. A computed tomography (CT) scan revealed a solid mass located in the right cardiophrenic angle. Histological examination showed a spindle cell neoplasm composed of medium-sized, elongated cells with scant eosinophilic cytoplasm, arranged in storiform and whorled patterns. Immunohistochemical staining was negative for lineage-specific markers. Fluorescence in situ hybridization (FISH) detected an EWSR1 gene rearrangement in 15% of the neoplastic cells, and RNA sequencing demonstrated a novel EWSR1::HOXB8 fusion. This case highlights the relevance of EWSR1-driven fusions in spindle cell mesenchymal neoplasms and emphasizes the need for further exploration into their clinical and biological behavior. After 5 months of chemotherapy, the patient showed moderate clinical improvement.