Ghost cell odontogenic carcinoma arising in dentinogenic ghost cell tumor with next-generation sequencing cancer panel analysis: A case report

Seki‐Soda, Mai; Sano, Takaaki; Matsumura, Nozomi; Takayama, Yoshiyasu; Gomi, Akinori; Ogawa, Masaru; Yokoo, Satoshi; Oyama, Tetsunari

doi:10.1016/j.oooo.2022.01.005

Cited by 8 publications

(4 citation statements)

References 36 publications

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“…16 Specifically, it has been observed that the CTNNB1 gene coding beta-catenin, a key component of the Wnt/beta-catenin pathway, shows mutational upregulation in dentinogenic ghost cell tumors. [15][16][17] These results suggest that abnormalities in the Wnt/beta-catenin pathway may have caused the simultaneous occurrence of odontomas and DGCT as in this case. Further research is needed to fully understand the link between the Wnt/beta-catenin pathway and dentinogenic ghost cell tumors.…”

Section: Discussionsupporting

confidence: 58%

“…Some studies suggest that aberrant activation of the Wnt/beta‐catenin pathway may play a role in the development of dentinogenic ghost cell tumors 16 . Specifically, it has been observed that the CTNNB1 gene coding beta‐catenin, a key component of the Wnt/beta‐catenin pathway, shows mutational upregulation in dentinogenic ghost cell tumors 15–17 . These results suggest that abnormalities in the Wnt/beta‐catenin pathway may have caused the simultaneous occurrence of odontomas and DGCT as in this case.…”

Section: Discussionsupporting

confidence: 51%

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A rare case of dentinogenic ghost cell tumor with concomitant odontoma

Okui

Morioka

Iwahashi

et al. 2023

Clinical Case Reports

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Dentinogenic ghost cell tumor (DGCT), a rare odontogenic tumor accounting for less than 0.5% of all odontogenic tumors, arises from the epithelial remnants of dental lamina or enamel. 1 Odontoma, a benign tumor-like lesion, consists of dental tissues such as enamel, dentin, cementum, and pulp. 2 Although both tumors are benign, they may cause complications depending on their location and size. DGCT is usually asymptomatic and presents as a painless swelling in the oral and maxillofacial region. Radiographically, DGCT appears as a well-defined radiolucent lesion with calcified areas. 3 Histopathologically, it is characterized by the presence of ghost cells, dentin, and calcified tissue. 4 Although DGCT is considered a benign tumor, it can be locally aggressive and has the potential to recur. 5 Here we present an extremely rare case of combined DGCT and odontoma, in which lesions with each pathology occurred at the same site simultaneously in a middle-aged female patient. | CASE REPORTA 32-year-old female presented to Shimane University Hospital with a painless swelling in her left maxilla that had

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Section: Discussionsupporting

confidence: 58%

Section: Discussionsupporting

confidence: 51%

A rare case of dentinogenic ghost cell tumor with concomitant odontoma

Okui

Morioka

Iwahashi

et al. 2023

Clinical Case Reports

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“…An extensive integrative genomic and transcriptomic analysis of GCOC studied by Bose et al reported numerous genomic alterations [28]. P53 overexpression and UBR5 mutations were also reported in the GCOC [29], while in another study genetic abnormalities were found in NOTCH1 and PTEN due to deletion [18]. However, one must be alert to the fact that while ameloblastomatous and cribriform patterns can be found in other odontogenic lesions such as ameloblastoma and adenoid ameloblastoma, these lesions may also have scattered ghost cells [16,30].…”

Section: Discussionmentioning

confidence: 99%

“…Exuberant areas with spindle-shaped cells and sieve-like structures can also be observed in some cases [17]. However, one must be alert to the fact that while ameloblastomas and sieve patterns can be found in other odontogenic lesions such as ameloblastomas and adenoid ameloblastomas, these lesions may also have scattered ghost cells [18]. CGMS is characterized by a large number of cholesterol clefts surrounded by multinucleated giant cells, histiocytes, plasma cells, lymphocytes, and hemosiderin deposits [19,20].…”

Section: Discussionmentioning

confidence: 99%

Challenging pitfalls in frozen section pathology: a case of mandible ghost cell odontogenic carcinoma and the literature review

Hu,

Yang,

Zhang

et al. 2024

BMC Oral Health

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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 BRAFV600E 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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