Ghost cell odontogenic carcinoma arising in dentinogenic ghost cell tumor with next-generation sequencing cancer panel analysis: A case report
Ghost cell odontogenic carcinoma arising in dentinogenic ghost cell tumor with next-generation sequencing cancer panel analysis: A case report
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DOI：
10.1016/j.oooo.2022.01.005
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发表时间：
2022-08-16
影响因子：
2.9
通讯作者：
Oyama, Tetsunari
中科院分区：
文献类型：
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作者：
Seki-Soda, Mai;Sano, Takaaki;Oyama, Tetsunari
目标。牙本质鬼影细胞癌是一种罕见的肿瘤，有时可发生于牙本质鬼影细胞瘤（DGCT）。研究设计。我们报告一例由DGCT引起的GCOC，该病例接受了长期随访和多次活检。活检标本使用新一代测序癌症小组进行分析。切除肿瘤的组织病理学显示良性和恶性成分的界限清晰。免疫组化结果显示，恶性肿瘤细胞核β -连环蛋白和LEF-1阳性。4例活检标本均检测到CTNNBI突变，且所有突变均相同（c.98C>G (p.Ser33Cys)）。未发现其他明确引起恶性转化的基因突变。本病例提示GCOC和DGCT是由CTNNB1共同突变引起的鬼细胞肿瘤，GCOC的恶性细胞来源于特异性分化为鬼细胞的细胞。
Objective. Ghost cell odontogenic carcinoma (GCOC) is a rare tumor that can sometimes occur from dentinogenic ghost cell tumor (DGCT).Study Design. 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.Results. 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 beta-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.Conclusions. 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.