Malignant odontogenic tumors
2025-11-24 Paola Dal Cin, PhD Affiliation1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
Keywords
{BRAF} p.V600E mutation, EWSR1 rearrangements , CTNNB1 mutationClassification
Definition
| Malignant odontogenic tumors | Genetic marker(s) |
|---|---|
| Sclerosing odontogenic carcinoma (SOC) | FISH for EWSR1 is a powerful tool for discriminating clear cell odontogenic carcinoma (CCOC) from sclerosing odontogenic carcinoma (SOC). The absence of EWSR1 rearrangement indicates that it is more likely to be a SOC than a CCOC. 1 |
| Ameloblastic carcinoma (ACA) | BRAF p.V600E mutations have been also reported in ACA but in low frequency than ameloblastoma 2 TP53, APC and CTNNB1 mutations can be present in BRAF-wild-type ACA. 3 |
| Clear cell odontogenic carcinoma (CCOC) | EWSR1 rearrangements were found, mainly as EWSR1::ATF1 or alternative EWSR1:CREB1 , as salivary clear cell carcinomas 4,5 |
| Ghost cell odontogenic carcinoma (GCOC | CTNNB1 is the driver mutation in this entity, with Ser33Cys reported most frequently, 6 . Single cases showed i n addition to the CTNNB1, also ARIDIA mutation, 7 or CREBBP and KMT2D .8 |
| Primary intraosseous carcinoma NOS | Primary intraosseous carcinoma (PIOC) NOS, is a rare odontogenic tumor growing inside the jaw bones that cannot be categorized as any other type of carcinoma , arising either from a previous odontogenic cyst , or de novo. 9,10 So far no specific genetic findings have been identified . A single case of PIOC with histopathological findings showed a transition from the odontogenic keratocyst to the carcinoma exhibited activation YAP signaling by Wnt/β-catenin signaling .11 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 38298294 | 2024 | Sclerosing Odontogenic Carcinoma With a Prominent Clear Cell Component Mimicking Odontogenic Clear Cell Carcinoma: An Extremely Rare Case With a Fatal Clinical Outcome. | Shen FC et al |
| 2 | 33176823 | 2020 | Study on clinical and biological characteristics of ameloblastic carcinoma. | Niu Z et al |
| 3 | 35048058 | 2021 | The Molecular Pathology of Odontogenic Tumors: Expanding the Spectrum of MAPK Pathway Driven Tumors. | Guimarães LM et al |
| 4 | 23715163 | 2013 | Clear cell odontogenic carcinomas show EWSR1 rearrangements: a novel finding and a biological link to salivary clear cell carcinomas. | Bilodeau EA et al |
| 5 | 33616852 | 2021 | Clear Cell Odontogenic Carcinoma: First Report of Novel EWSR1-CREM Fusion Gene in Case of Long-Term Misdiagnosis. | Breik O et al |
| 6 | 38901368 | 2024 | β-catenin nuclear translocation and WNT pathway mutations in ghost cell odontogenic carcinoma: A literature review and proposal of a new molecular-based classification "WNT pathway-altered malignant odontogenic tumor". | Oh KY et al |
| 7 | 40279034 | 2025 | Ghost Cell Odontogenic Carcinoma of the Anterior Maxilla with ARID1A Mutation: A Case Report and Literature Review. | Almadan NM et al |
| 8 | 26500725 | 2015 | Metastatic Ghost Cell Odontogenic Carcinoma: Description of a Case and Search for Actionable Targets. | Rappaport MJ et al |
| 9 | 16448921 | 2006 | Primary intraosseous odontogenic carcinoma arising in an odontogenic cyst or de novo: a clinicopathologic study of six new cases. | Chaisuparat R et al |
| 10 | 32113465 | 2020 | Genetic and histopathological analysis of a case of primary intraosseous carcinoma, NOS with features of both ameloblastic carcinoma and squamous cell carcinoma. | Yukimori A et al |
| 11 | 38908335 | 2024 | Wnt/β-catenin-YAP axis in the pathogenesis of primary intraosseous carcinoma NOS, deriving from odontogenic keratocyst. | Nakako Y et al |
Citation
Paola Dal Cin, PhD
Malignant odontogenic tumors
Atlas Genet Cytogenet Oncol Haematol. 2025-11-24
Online version: http://atlasgeneticsoncology.org/solid-tumor/209344/malignant-odontogenic-tumors
