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<p>Urachal cancer is a rare malignancy, and cases with neuroendocrine features are extremely uncommon. We present a man in his 30s with gross hematuria. Imaging revealed a nodular mass in the bladder dome with lung metastases. Histopathology after transurethral and open resection revealed a large cell neuroendocrine carcinoma arising from the urachus. Comprehensive genomic profiling (CGP) identified <i>FGFR2–TACC2</i> fusion, <i>TP53</i> mutation, and <i>Rb1</i> loss. These findings suggest that targeted therapy may be considered in such rare and aggressive variants.</p>

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A case of neuroendocrine carcinoma of the urachal cancer with comprehensive genomic profiling results

  • 期刊论文

  • 发表日期：

    2025年10月2日

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  • Shunsuke Owa,
  • Takeshi Sasaki,
  • Kenta Matsui,
  • Taketomo Nishikawa,
  • Momoko Kato,
  • Takumi Kageyama,
  • Hiroto Yuasa,
  • Shinichiro Higashi,
  • Yusuke Sugino,
  • Yasutaka Tono,
  • Takumi Fujiwara,
  • Akinobu Hayashi,
  • Kouhei Nishikawa,
  • Hiroshi Imai,
  • Yoshinaga Okugawa,
  • Toshiro Mizuno,
  • Takahiro Inoue

摘要

Urachal cancer is a rare malignancy, and cases with neuroendocrine features are extremely uncommon. We present a man in his 30s with gross hematuria. Imaging revealed a nodular mass in the bladder dome with lung metastases. Histopathology after transurethral and open resection revealed a large cell neuroendocrine carcinoma arising from the urachus. Comprehensive genomic profiling (CGP) identified FGFR2–TACC2 fusion, TP53 mutation, and Rb1 loss. These findings suggest that targeted therapy may be considered in such rare and aggressive variants.