Breimer Gerben E, Janssen Nard G, Jansen Anne M L, Slootweg Pieter J
Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands.
Department of Oral and Maxillofacial Pediatric Surgery, University Medical Center Utrecht, Utrecht, The Netherlands.
Virchows Arch. 2025 Aug 15. doi: 10.1007/s00428-025-04212-4.
Cemento-osseous dysplasia (COD) is a benign fibro-osseous lesion of the jaw that can mimic other entities, particularly cemento-ossifying fibroma (COF), both radiologically and histologically. Although recent research has implicated mutations in the RAS-MAPK pathway in COD, its broader molecular landscape remains insufficiently defined. We report the case of a 32-year-old woman with an incidental lesion in the right mandibular angle. Radiographic assessment revealed a poorly demarcated lesion, and histopathological analysis confirmed features consistent with COD, including fibro-osseous tissue with interconnected bony trabeculae lacking osteoblastic rimming. Next-generation sequencing (TSO500 panel) identified a previously unreported NOTCH4 mutation. This finding expands the spectrum of genetic alterations associated with COD and raises the possibility of Notch signaling involvement in its pathogenesis. Incorporating molecular profiling into the diagnostic workflow may improve discrimination between COD and COF and deepen our understanding of fibro-osseous lesions of the jaw.
骨化纤维发育异常（COD）是一种颌骨的良性纤维-骨病变，在放射学和组织学上都可能与其他病变相似，尤其是骨化纤维瘤（COF）。尽管最近的研究表明RAS-MAPK通路的突变与COD有关，但其更广泛的分子图谱仍未得到充分界定。我们报告了一例32岁女性患者，其右下颌角有一偶然发现的病变。影像学评估显示病变边界不清，组织病理学分析证实了与COD一致的特征，包括具有相互连接的骨小梁的纤维-骨组织，缺乏成骨细胞边缘。二代测序（TSO500 panel）确定了一个先前未报道的NOTCH4突变。这一发现扩展了与COD相关的基因改变谱，并增加了Notch信号通路参与其发病机制的可能性。将分子谱分析纳入诊断流程可能会改善COD和COF之间的鉴别，并加深我们对颌骨纤维-骨病变的理解。
