Scholarlink

<p>The identification of novel, molecularly defined neoplasms continue to refine diagnostic precision and illuminate tumor pathogenesis. Assessment of the EWSR1 locus has emerged as a frequently utilized diagnostic tool in the work-up of salivary and craniofacial bone tumors, due to its established perturbations in hyalinizing clear cell carcinomas, myoepithelial carcinomas, rare mucoepidermoid carcinomas, and others. Here, we report a case of a 12-year-old female who presented with a large expansile intraosseous lesion within the left body of the mandible, initially biopsied with negative FISH results for EWSR1, but RNA-sequencing identified an EWSR1::YY1 rearrangement. The subsequent resection is presented here and shows an epithelial immunophenotype tumor without myoepithelial differentiation. To the best of our knowledge, this represents a novel epithelial tumor harboring an EWSR1::YY1 fusion outside the peritoneal/visceral cavity. The EWSR1::YY1 fusion is a recently described genetic event, initially reported in epithelioid peritoneal mesothelioma, and represents the first direct oncogenic involvement of the transcription factor YY1.</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 Glomeruloid Adenocarcinoma Arising in the Mandible Harboring EWSR1::YY1

  • 期刊论文

  • 发表日期：

    2025年12月29日

查看全文
  • Daniel L. Miller,
  • Justin A. Bishop,
  • Louis P. Dehner

摘要

The identification of novel, molecularly defined neoplasms continue to refine diagnostic precision and illuminate tumor pathogenesis. Assessment of the EWSR1 locus has emerged as a frequently utilized diagnostic tool in the work-up of salivary and craniofacial bone tumors, due to its established perturbations in hyalinizing clear cell carcinomas, myoepithelial carcinomas, rare mucoepidermoid carcinomas, and others. Here, we report a case of a 12-year-old female who presented with a large expansile intraosseous lesion within the left body of the mandible, initially biopsied with negative FISH results for EWSR1, but RNA-sequencing identified an EWSR1::YY1 rearrangement. The subsequent resection is presented here and shows an epithelial immunophenotype tumor without myoepithelial differentiation. To the best of our knowledge, this represents a novel epithelial tumor harboring an EWSR1::YY1 fusion outside the peritoneal/visceral cavity. The EWSR1::YY1 fusion is a recently described genetic event, initially reported in epithelioid peritoneal mesothelioma, and represents the first direct oncogenic involvement of the transcription factor YY1.