Department of Pathology, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University), Haikou, 570311, China.
Department of Wound Repair, The First Affiliated Hospital of Hainan Medical University, Hainan Medical University, Haikou, 570311, China.
BMC Oral Health. 2024 Apr 13;24(1):450. doi: 10.1186/s12903-024-04190-0.
Ghost cell odontogenic carcinoma (GCOC) is a rare malignancy characterized by the presence of ghost cells, preferably in the maxilla. Only slightly more than 50 case reports of GCOC have been documented to date. Due to the rarity of this tumor and its nonspecific clinical criteria, there is a heightened risk of misdiagnosis in clinical examination, imaging findings, and pathology interpretation.
A 50-year-old male patient presented to the hospital due to experiencing pain in his lower front teeth while eating for the past 2 months. Upon examination, a red, hard, painless mass was found in his left lower jaw, measuring approximately 4.0 cm × 3.5 cm. Based on the malignant histological morphology of the tumor and the abundant red-stained keratinized material, the preoperative frozen section pathology misdiagnosed it as squamous cell carcinoma (SCC). The surgical resection specimen pathology via paraffin section revealed that the tumor was characterized by round-like epithelial islands within the fibrous interstitium, accompanied by a large number of ghost cells and some dysplastic dentin with infiltrative growth. The malignant components displayed marked heterogeneity and mitotic activity. Additionally, a calcified cystic tumor component of odontogenic origin was observed. Hemorrhage, necrosis, and calcifications were present, with a foreign body reaction around ghost cells. Immunoreactivity for β-catenin showed strong nuclear positivity in tumor cells, while immunostaining was completely negative for p53. The Ki67 proliferation index was approximately 30-40%. The tumor cells exhibited diffuse CK5/6, p63, and p40 immunoreactivity, with varying immunopositivity for EMA. Furthermore, no BRAF mutation was identified by ARMS-PCR. The final pathology confirmed that the tumor was a mandible GCOC.
We have reported and summarized for the first time the specific manifestations of GCOC in frozen section pathology and possible pitfalls in misdiagnosis. We also reviewed and summarized the etiology, pathological features, molecular characteristics, differential diagnosis, imaging features, and current main treatment options for GCOC. Due to its rarity, the diagnosis and treatment of this disease still face certain challenges. A correct understanding of the pathological morphology of GCOC, distinguishing the ghost cells and the secondary stromal reaction around them, is crucial for reducing misdiagnosis rates.
幽灵细胞牙源性癌（GCOC）是一种罕见的恶性肿瘤，其特征是存在幽灵细胞，主要发生在上颌骨。迄今为止，仅有略多于 50 例 GCOC 的病例报告。由于这种肿瘤的罕见性及其非特异性临床标准，在临床检查、影像学发现和病理学解释中存在更高的误诊风险。
一名 50 岁男性患者因进食时下前牙疼痛 2 个月就诊。检查发现左下颌有一红色、坚硬、无痛性肿块，大小约为 4.0×3.5cm。根据肿瘤恶性组织形态学和丰富的红色染色角化物质，术前冷冻切片病理误诊为鳞状细胞癌（SCC）。石蜡切片手术切除标本病理显示，肿瘤特征为纤维间质内的圆形上皮岛，伴有大量幽灵细胞和一些发育不良的牙本质浸润性生长。恶性成分显示明显异质性和有丝分裂活性。此外，还观察到牙源性来源的钙化囊性肿瘤成分。存在出血、坏死和钙化，幽灵细胞周围有异物反应。β-连环蛋白免疫反应显示肿瘤细胞强核阳性，而 p53 免疫染色完全阴性。Ki67 增殖指数约为 30-40%。肿瘤细胞弥漫性 CK5/6、p63 和 p40 免疫反应阳性，EMA 免疫反应阳性程度不同。此外，ARMS-PCR 未检测到 BRAF 突变。最终病理证实肿瘤为下颌 GCOC。
我们首次报道并总结了 GCOC 在冷冻切片病理中的具体表现和可能的误诊陷阱。我们还回顾和总结了 GCOC 的病因、病理特征、分子特征、鉴别诊断、影像学特征和当前主要治疗选择。由于其罕见性，这种疾病的诊断和治疗仍然存在一定的挑战。正确理解 GCOC 的病理形态学，区分幽灵细胞及其周围的次级间质反应，对于降低误诊率至关重要。
