Roza Ana Luiza Oliveira Corrêa, de Freitas Stephanie Vargas, Smit Chané, Rocha André Caroli, Agostini Michelle, Cortezzi Ellen Brilhante, Abrahão Aline Corrêa, Shumway Brian, Shrestha Madhu, Cabido Letícia Ferreira, Woo Victoria, Martínez-Rondanelli Benjamin, Mosqueda-Taylor Adalberto, van Heerden Willie F P, Wright John M, Vargas Pablo Agustin, Romañach Mário José
Department of Oral Diagnosis, Piracicaba Dental School, University of Campinas (UNICAMP), Piracicaba, Brazil.
Department of Oral Diagnosis and Pathology, Federal University of Rio de Janeiro School of Dentistry (FO-UFRJ), Rua Prof. Rodolpho Paulo Rocco, 325 / 1º andar, Ilha da Cidade Universitária - Rio de Janeiro - RJ - CEP: 21.941- 913, Rio de Janeiro, Brazil.
Head Neck Pathol. 2025 Aug 8;19(1):99. doi: 10.1007/s12105-025-01817-8.
Odontogenic sarcomas (OS) are rare malignant mixed odontogenic tumors featuring benign epithelial and malignant ectomesenchymal components.
Ten OS cases from seven Oral and Maxillofacial Pathology services were retrospectively reviewed (2000-2024), including clinical, radiographic, histopathologic, and immunohistochemical data (BRAF p.V600E and SOX9).
Five female and five male patients, with a mean age of 30 years (range: 9-72 years), presented with mandibular tumors, all as aggressive, ill-defined radiolucencies. Eight patients reported a prior diagnosis of a benign mixed odontogenic tumor (mean interval: 3.6 years). Six patients underwent wide surgical resection; one experienced recurrence within two years and showed high-grade transformation. Histopathologic examination revealed benign odontogenic epithelium within malignant ectomesenchyme with hypercellularity, pleomorphism, and increased mitotic figures. Rare features included ghost cells, microcystic degeneration, vacuolated morphology, and high-grade transformation. BRAF p.V600E was positive in 60% of the mesenchymal component. SOX9 was diffusely expressed in both epithelial and mesenchymal components, with reduced staining in the case with high-grade transformation.
OS primarily affects young adults and often arises from pre-existing benign mixed odontogenic tumors. Despite variable histology, the biological behavior of the tumors remains consistently aggressive. BRAF p.V600E and SOX9 may aid diagnosis. Vigilant follow-up of patients diagnosed with benign mixed odontogenic tumors is essential, particularly within four years post-surgery. Multicenter studies are warranted to better understand the pathogenesis of OS and support the development of targeted therapeutic strategies.
牙源性肉瘤（OS）是罕见的恶性混合性牙源性肿瘤，具有良性上皮和恶性外胚间叶成分。
回顾性分析了来自七个口腔颌面病理学科室的10例牙源性肉瘤病例（2000 - 2024年），包括临床、影像学、组织病理学和免疫组化数据（BRAF p.V600E和SOX9）。
5例女性和5例男性患者，平均年龄30岁（范围：9 - 72岁），均表现为下颌肿瘤，均为侵袭性、边界不清的透射区。8例患者曾被诊断为良性混合性牙源性肿瘤（平均间隔时间：3.6年）。6例患者接受了广泛的手术切除；1例在两年内复发并出现高级别转化。组织病理学检查显示，恶性外胚间叶组织内有良性牙源性上皮，细胞增多、多形性和有丝分裂象增加。罕见特征包括影细胞、微囊性变、空泡状形态和高级别转化。BRAF p.V600E在60%的间叶成分中呈阳性。SOX9在上皮和间叶成分中均弥漫性表达，在高级别转化的病例中染色减少。
牙源性肉瘤主要影响年轻人，常起源于先前存在的良性混合性牙源性肿瘤。尽管组织学表现多样，但肿瘤的生物学行为始终具有侵袭性。BRAF p.V600E和SOX9可能有助于诊断。对诊断为良性混合性牙源性肿瘤的患者进行密切随访至关重要，尤其是在术后四年内。有必要开展多中心研究，以更好地了解牙源性肉瘤的发病机制，并支持靶向治疗策略的开发。
