Liu Limin, Sun Jingjing, Liu Shengwen, Zhang Chunye, Li Jiang
Department of Oral Pathology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China; College of Stomatology, Shanghai Jiao Tong University, National Clinical Research Center for Oral Disease, Shanghai 200011, China; Shanghai Key Laboratory of Stomatology & Shanghai Research Institute of Stomatology, Shanghai 200011, China.
Department of Oral and Maxillofacial-Head and Neck Oncology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China; College of Stomatology, Shanghai Jiao Tong University, National Clinical Research Center for Oral Disease, Shanghai 200011, China; Shanghai Key Laboratory of Stomatology & Shanghai Research Institute of Stomatology, Shanghai 200011, China.
J Stomatol Oral Maxillofac Surg. 2025 Jun;126(3):102098. doi: 10.1016/j.jormas.2024.102098. Epub 2024 Sep 30.
Malignant transformation of craniofacial fibrous dysplasia (FD) is not common and its clinicopathological as well as molecular characteristics remain largely unknown with limited literature reports.
Patients diagnosed with FD including McCune-Albright syndrome (MAS), polyostotic fibrous dysplasia (PFD), and monostotic fibrous dysplasia (MFD), accompanied by malignant transformation at our institution over the past 18 years (2005-2023) were retrospectively screened and analyzed to investigate the epidemiology and clinicopathological features of these tumors.
Three hundred and five patients were diagnosed as FD in our hospital from 2005 to 2023, with 176 females (57.7 %) and 129 males (42.3 %). The average age at diagnosis was 28.35 years, ranging from 7 to 70 years. A total number of 15 (4. 9 %) cases of FD with malignant transformation were selected. Among these 15 patients, the age of the initial diagnosis of FD ranged from 6 to 54 years (mean age 28.87 ± 16.77), and the ages when malignant transformation occurred ranged from 18 to 57 years (mean age 38.53 ± 13.05). Among 15 patients, 12 patients were female (80 %) and 3 were male (20 %). Fifteen cases included MSA in 2 patients, PFD in 4 patients, and MFD in 9 patients. Of the anatomical sites in craniofacial bones, the most common site of the lesion was the maxilla, followed by the mandible. Malignant neoplasm arising in FD were osteosarcoma (12/15), chondrosarcoma (1/15) and high-grade sarcoma of uncertain differentiation (2/15). The 3- and 5-year overall survival rate was 33.3 % (5/15) and 20 % (3/15) respectively. In secondary osteosarcoma from FD, MDM2 and CDK4 positivity were 33.3 % and 41.7 % respectively, and only one case was MDM2-amplified and CDK4-amplified.
Malignant transformation in fibrous dysplasia was an exceedingly rare event and with a female predominance. The overall survival rate was poor. Osteosarcoma was the most common malignant neoplasm arising in FD. MDM2 and CDK4 expression may aid in the diagnosis of secondary osteosarcoma in FD.
颅面部骨纤维异常增殖症（FD）恶变并不常见，其临床病理及分子特征在很大程度上仍不清楚，相关文献报道有限。
回顾性筛选并分析了过去18年（2005 - 2023年）在我院诊断为FD包括McCune - Albright综合征（MAS）、多骨型骨纤维异常增殖症（PFD）和单骨型骨纤维异常增殖症（MFD）且伴有恶变的患者，以研究这些肿瘤的流行病学及临床病理特征。
2005年至2023年我院共诊断出305例FD患者，其中女性176例（57.7%），男性129例（42.3%）。诊断时的平均年龄为28.35岁，范围为7至70岁。共选取15例（4.9%）FD恶变病例。这15例患者中，FD初诊年龄为6至54岁（平均年龄28.87±16.77岁），恶变发生年龄为18至57岁（平均年龄38.53±13.05岁）。15例患者中，女性12例（80%），男性3例（20%）。15例病例中，2例为MAS，4例为PFD，9例为MFD。在颅面骨的解剖部位中，最常见的病变部位是上颌骨，其次是下颌骨。FD中发生的恶性肿瘤为骨肉瘤（12/15）、软骨肉瘤（1/15）和分化不确定的高级别肉瘤（2/15）。3年和5年总生存率分别为33.3%（5/15）和20%（3/15）。在FD继发的骨肉瘤中，MDM2和CDK4阳性率分别为33.3%和41.7%，仅1例MDM2扩增和CDK4扩增。
骨纤维异常增殖症恶变是极其罕见的事件，且以女性为主。总体生存率较差。骨肉瘤是FD中最常见的恶性肿瘤。MDM2和CDK4表达可能有助于FD继发骨肉瘤的诊断。
