Challenging pitfalls in frozen section pathology: a case of mandible ghost cell odontogenic carcinoma and the literature review
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 criteri...
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BMC
2024-04-01
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Series: | BMC Oral Health |
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Online Access: | https://doi.org/10.1186/s12903-024-04190-0 |
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author | Sha-Sha Hu Jian Yang Hai-Fei Zhang Jie Chen Xin-Nian Li Fu-Jin Liu Bo Wang |
author_facet | Sha-Sha Hu Jian Yang Hai-Fei Zhang Jie Chen Xin-Nian Li Fu-Jin Liu Bo Wang |
author_sort | Sha-Sha Hu |
collection | DOAJ |
description | 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. Case presentation 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 V600E mutation was identified by ARMS-PCR. The final pathology confirmed that the tumor was a mandible GCOC. Conclusion 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. |
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language | English |
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spelling | doaj.art-2ac236ee9aa74a00bd09b2e96fc3958b2024-04-14T11:31:10ZengBMCBMC Oral Health1472-68312024-04-012411910.1186/s12903-024-04190-0Challenging pitfalls in frozen section pathology: a case of mandible ghost cell odontogenic carcinoma and the literature reviewSha-Sha Hu0Jian Yang1Hai-Fei Zhang2Jie Chen3Xin-Nian Li4Fu-Jin Liu5Bo Wang6Department of Pathology, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University)Department of Wound Repair, The First Affiliated Hospital of Hainan Medical University, Hainan Medical UniversityDepartment of Pathology, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University)Department of Pathology, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University)Department of Pathology, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University)Department of Pathology, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University)Department of Pathology, Hainan General Hospital (Hainan Affiliated Hospital of Hainan Medical University)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. Case presentation 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 V600E mutation was identified by ARMS-PCR. The final pathology confirmed that the tumor was a mandible GCOC. Conclusion 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.https://doi.org/10.1186/s12903-024-04190-0Ghost cell odontogenic carcinomaMisdiagnosisFrozen section pathologySquamous cell carcinomaCase report |
spellingShingle | Sha-Sha Hu Jian Yang Hai-Fei Zhang Jie Chen Xin-Nian Li Fu-Jin Liu Bo Wang Challenging pitfalls in frozen section pathology: a case of mandible ghost cell odontogenic carcinoma and the literature review BMC Oral Health Ghost cell odontogenic carcinoma Misdiagnosis Frozen section pathology Squamous cell carcinoma Case report |
title | Challenging pitfalls in frozen section pathology: a case of mandible ghost cell odontogenic carcinoma and the literature review |
title_full | Challenging pitfalls in frozen section pathology: a case of mandible ghost cell odontogenic carcinoma and the literature review |
title_fullStr | Challenging pitfalls in frozen section pathology: a case of mandible ghost cell odontogenic carcinoma and the literature review |
title_full_unstemmed | Challenging pitfalls in frozen section pathology: a case of mandible ghost cell odontogenic carcinoma and the literature review |
title_short | Challenging pitfalls in frozen section pathology: a case of mandible ghost cell odontogenic carcinoma and the literature review |
title_sort | challenging pitfalls in frozen section pathology a case of mandible ghost cell odontogenic carcinoma and the literature review |
topic | Ghost cell odontogenic carcinoma Misdiagnosis Frozen section pathology Squamous cell carcinoma Case report |
url | https://doi.org/10.1186/s12903-024-04190-0 |
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