<p>Wnt/β-catenin-activated rosette-forming carcinoma (WARFC) is a recently proposed cutaneous tumor entity characterized by rosette formation, CDX2 expression, RB1 loss, and Wnt/β-catenin pathway activation. Extracutaneous counterparts of WARFC have not been documented to date. We report a distinctive case of lung carcinoma closely resembling WARFC. An 80-year-old man with a smoking history presented with a rapidly enlarging lung nodule. The resected tumor consisted of a rosette-forming large cell carcinoma with a trabecular pattern and lacking neuroendocrine marker expression, combined with squamous cell carcinoma. The rosette-forming component showed aberrant nuclear β-catenin expression, diffuse CDX2 expression, and RB1 loss. Targeted sequencing identified a pathogenic <i>APC</i> splice-site mutation. This case likely represents the pulmonary counterpart of cutaneous WARFC. Pulmonary WARFC should be considered in the differential diagnosis of large cell lung carcinoma with neuroendocrine morphology.</p>

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Wnt/β-catenin-activated rosette-forming carcinoma of the lung: a case report of a possible pulmonary counterpart of a recently recognized cutaneous entity

  • Kentaro Tsuji,
  • Yasuhide Takeuchi,
  • Masakazu Fujimoto,
  • Shota Kiyuna,
  • Takuto Fukutome,
  • Yuki Teramoto,
  • Hiroaki Ito,
  • Keita Jinnouchi,
  • Moe Omura,
  • Takashi Kitagawa,
  • Hidenao Kayawake,
  • Akihiko Yoshizawa,
  • Hironori Haga

摘要

Wnt/β-catenin-activated rosette-forming carcinoma (WARFC) is a recently proposed cutaneous tumor entity characterized by rosette formation, CDX2 expression, RB1 loss, and Wnt/β-catenin pathway activation. Extracutaneous counterparts of WARFC have not been documented to date. We report a distinctive case of lung carcinoma closely resembling WARFC. An 80-year-old man with a smoking history presented with a rapidly enlarging lung nodule. The resected tumor consisted of a rosette-forming large cell carcinoma with a trabecular pattern and lacking neuroendocrine marker expression, combined with squamous cell carcinoma. The rosette-forming component showed aberrant nuclear β-catenin expression, diffuse CDX2 expression, and RB1 loss. Targeted sequencing identified a pathogenic APC splice-site mutation. This case likely represents the pulmonary counterpart of cutaneous WARFC. Pulmonary WARFC should be considered in the differential diagnosis of large cell lung carcinoma with neuroendocrine morphology.