Department of Diagnostic Pathology, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan; Department of Oral and Maxillofacial Surgery, and Plastic Surgery, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan.
Department of Diagnostic Pathology, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan.
Oral Surg Oral Med Oral Pathol Oral Radiol. 2022 Sep;134(3):e58-e65. doi: 10.1016/j.oooo.2022.01.005. Epub 2022 Jan 10.
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.
幽灵细胞牙源性癌（GCOC）是一种罕见的肿瘤，有时可由牙源性幽灵细胞肿瘤（DGCT）发展而来。
我们报告了一例源自 DGCT 的 GCOC，该病例经历了多次活检的长期随访。使用下一代测序癌症面板对活检标本进行了分析。
切除肿瘤的组织病理学显示良性和恶性成分之间的边界清晰。在免疫组织化学中，恶性肿瘤细胞核β-连环蛋白和 LEF-1 阳性。在所有 4 个活检标本中均检测到 CTNNBI 突变，且所有这些突变均相同（c.98C>G（p.Ser33Cys））。未检测到其他可明确导致恶性转化的基因突变。
本病例提示 GCOC 和 DGCT 是由 CTNNB1 的共同突变引起的幽灵细胞肿瘤，GCOC 的恶性细胞来源于专门分化为幽灵细胞的细胞。
