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Abstract：
BACKGROUND: 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.
METHODS: 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 BRAFV600E mutation was identified by ARMS-PCR. The final pathology confirmed that the tumor was a mandible GCOC.
CONCLUSIONS: 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.
METHODS: 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 BRAFV600E mutation was identified by ARMS-PCR. The final pathology confirmed that the tumor was a mandible GCOC.
CONCLUSIONS: 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.
摘要：
背景：鬼细胞牙源性癌（GCOC）是一种罕见的恶性肿瘤，其特征是存在鬼细胞，最好在上颌骨.迄今为止，仅记录了50多例GCOC病例报告。由于这种肿瘤的罕见性及其非特异性临床标准，在临床检查中存在更高的误诊风险，影像学发现，和病理学解释。
方法：一名50岁的男性患者因在过去2个月内进食时下门牙疼痛而被送往医院。经检查,一个红色的,硬,在他的左下颚发现了无痛肿块，测量约4.0厘米×3.5厘米。根据肿瘤的恶性组织学形态和丰富的红色染色角化材料，术前冰冻切片病理误诊为鳞状细胞癌(SCC)。通过石蜡切片的手术切除标本病理显示，肿瘤的特征是纤维间质内的圆形上皮岛，伴随着大量的鬼细胞和一些发育不良的牙本质浸润生长。恶性成分表现出明显的异质性和有丝分裂活性。此外,观察到牙源性钙化的囊性肿瘤成分。出血,坏死,钙化存在，幽灵细胞周围有异物反应。β-连环蛋白的免疫反应性在肿瘤细胞中显示出强的核阳性，而p53免疫染色完全阴性。Ki67增殖指数约为30-40%。肿瘤细胞表现出弥漫性CK5/6、p63和p40免疫反应性，对EMA具有不同的免疫阳性。此外，ARMS-PCR未发现BRAFV600E突变。最终病理证实肿瘤为下颌骨GCOC。
结论：我们首次报道并总结了GCOC在冰冻切片病理中的具体表现及可能的误诊隐患。我们还回顾和总结了病因，病理特征,分子特征，鉴别诊断,成像特征,以及目前GCOC的主要治疗方案。由于它的稀有性,该病的诊断和治疗仍面临一定的挑战。正确认识GCOC的病理形态学,区分幽灵细胞和它们周围的次级基质反应，对降低误诊率至关重要。
方法：一名50岁的男性患者因在过去2个月内进食时下门牙疼痛而被送往医院。经检查,一个红色的,硬,在他的左下颚发现了无痛肿块，测量约4.0厘米×3.5厘米。根据肿瘤的恶性组织学形态和丰富的红色染色角化材料，术前冰冻切片病理误诊为鳞状细胞癌(SCC)。通过石蜡切片的手术切除标本病理显示，肿瘤的特征是纤维间质内的圆形上皮岛，伴随着大量的鬼细胞和一些发育不良的牙本质浸润生长。恶性成分表现出明显的异质性和有丝分裂活性。此外,观察到牙源性钙化的囊性肿瘤成分。出血,坏死,钙化存在，幽灵细胞周围有异物反应。β-连环蛋白的免疫反应性在肿瘤细胞中显示出强的核阳性，而p53免疫染色完全阴性。Ki67增殖指数约为30-40%。肿瘤细胞表现出弥漫性CK5/6、p63和p40免疫反应性，对EMA具有不同的免疫阳性。此外，ARMS-PCR未发现BRAFV600E突变。最终病理证实肿瘤为下颌骨GCOC。
结论：我们首次报道并总结了GCOC在冰冻切片病理中的具体表现及可能的误诊隐患。我们还回顾和总结了病因，病理特征,分子特征，鉴别诊断,成像特征,以及目前GCOC的主要治疗方案。由于它的稀有性,该病的诊断和治疗仍面临一定的挑战。正确认识GCOC的病理形态学,区分幽灵细胞和它们周围的次级基质反应，对降低误诊率至关重要。
