Ghost cell odontogenic carcinoma arising in dentinogenic ghost cell tumor with next-generation sequencing cancer panel analysis: A case report

• Published in: Oral surgery, oral medicine, oral pathology and oral radiology oral medicine, oral pathology and oral radiology, 2022-09, Vol.134 (3), p.e58-e65
• Main Authors: Seki-Soda, Mai, Sano, Takaaki, Matsumura, Nozomi, Takayama, Yoshiyasu, Gomi, Akinori, Ogawa, Masaru, Yokoo, Satoshi, Oyama, Tetsunari
• Format: Article
• Language: English
• ISSN: 2212-4403; 2212-4411
• DOI: 10.1016/j.oooo.2022.01.005

Ghost cell odontogenic carcinoma (GCOC) is a rare tumor that can sometimes occur from dentinogenic ghost cell tumor (DGCT). We report a case of GCOC arising from DGCT that underwent long-term follow-up with multiple biopsies. The biopsy specimens were analyzed using a next-generation sequencing cancer panel. Histopathology of the resected tumor revealed that the boundary between benign and malignant components was clear. In immunohistochemistry, the nuclei of malignant tumor cells were positive for β-catenin and LEF-1. CTNNBI mutation was detected in all 4 biopsy specimens, and all of these mutations were identical (c.98C>G (p.Ser33Cys)). No other gene mutations that could definitively cause malignant transformation were detected. This case suggested that GCOC and DGCT are ghost cell neoplasms caused by a common mutation of CTNNB1 and that the malignant cells of GCOC are derived from cells that specifically differentiate into ghost cells.