Scholarlink

<p>Undifferentiated embryonal sarcoma of the liver (UESL) is a rare, highly aggressive malignant mesenchymal tumor that predominantly affects children and typically carries a poor prognosis. We report a unique UESL case with long-term survival harboring a novel <i>MAD1L1::ERG</i> gene fusion. A 15-year-old female underwent segmentectomy for a 15-cm hepatic mass, without a precise diagnosis initially. From 2018 to 2025, she experienced multiple recurrences involving the liver, right kidney, and retroperitoneum. Histopathological examination across all recurrences consistently showed classic UESL features: pleomorphic spindle or polygonal cells in a myxoid stroma, frequent mitotic figures, bizarre multinucleated giant cells, and characteristic PAS-positive eosinophilic hyaline globules. Immunohistochemistry (IHC) was positive for vimentin. Targeted DNA next-generation sequencing (NGS) identified 23 genetic alterations, most notably a novel <i>MAD1L1::ERG</i> gene fusion (breakpoint: <i>MAD1L1</i> Intron 18 and <i>ERG</i> Exon 13) alongside <i>CCND2</i>, <i>FGFR3</i>, <i>MYC</i>, <i>SRC</i> amplifications, and a <i>TP53</i> mutation. Despite the tumor’s highly aggressive behavior, the patient achieved long-term survival through repeated multi-visceral resections and systemic chemotherapy (VAC and IE). This report expands the molecular genetic profile of UESL by identifying a previously undescribed gene rearrangement.</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

Undifferentiated embryonal sarcoma of the liver with a novel MAD1L1::ERG fusion: a 20-year survival case report

  • 期刊论文

  • 发表日期：

    2026年7月21日

查看全文
  • Mei Yang,
  • Zunguo Du,
  • Feng Tang,
  • Jie Fan,
  • Xiaomu Hu

摘要

Undifferentiated embryonal sarcoma of the liver (UESL) is a rare, highly aggressive malignant mesenchymal tumor that predominantly affects children and typically carries a poor prognosis. We report a unique UESL case with long-term survival harboring a novel MAD1L1::ERG gene fusion. A 15-year-old female underwent segmentectomy for a 15-cm hepatic mass, without a precise diagnosis initially. From 2018 to 2025, she experienced multiple recurrences involving the liver, right kidney, and retroperitoneum. Histopathological examination across all recurrences consistently showed classic UESL features: pleomorphic spindle or polygonal cells in a myxoid stroma, frequent mitotic figures, bizarre multinucleated giant cells, and characteristic PAS-positive eosinophilic hyaline globules. Immunohistochemistry (IHC) was positive for vimentin. Targeted DNA next-generation sequencing (NGS) identified 23 genetic alterations, most notably a novel MAD1L1::ERG gene fusion (breakpoint: MAD1L1 Intron 18 and ERG Exon 13) alongside CCND2, FGFR3, MYC, SRC amplifications, and a TP53 mutation. Despite the tumor’s highly aggressive behavior, the patient achieved long-term survival through repeated multi-visceral resections and systemic chemotherapy (VAC and IE). This report expands the molecular genetic profile of UESL by identifying a previously undescribed gene rearrangement.