青少年骨化性纤维瘤(JOF)是颌面部骨骼的罕见良性纤维骨性病变(BFOL),具有局部侵袭性和高复发率。鼠DoubleMinute2(MDM2)是位于染色体12(12q13-15)的癌基因,其抑制肿瘤抑制基因TP53。MDM2基因位点扩增的存在是评估某些肉瘤的有用分子辅助手段,包括低级别髓内骨肉瘤(LGIOS)。JOF和LGIOS具有一些重叠的临床和组织病理学特征。这项研究的目的是使用荧光原位杂交(FISH)评估一系列JOF是否存在MDM2基因位点扩增。
方法:经IRB批准,对佛罗里达健康大学口腔病理学和外科病理学活检服务档案的机构档案进行了检索.病例由口腔病理学住院医师重新评估,口腔颌面病理学家,还有骨骼和软组织病理学家.选择诊断一致的病例(n=9)进行MDM2检测。通过FISH测试MDM2基因位点扩增被应用于所有检索的病例。
结果:所有病例经FISH检测MDM2基因位点扩增均为阴性。
结论:在我们的小系列中,JOF未显示MDM2基因位点异常,LGIOS的特征。这一发现表明JOF具有独特的潜在发病机理。如果在更大的系列中得到证实,在特征重叠的病例中或在活检材料最少的情况下,这些发现可能有助于区分这两个实体.
Juvenile ossifying fibroma (JOF) is an uncommon benign fibro-osseous lesion (BFOL) of the maxillofacial bones with a locally aggressive nature and a high recurrence rate. Murine Double Minute 2 (
MDM2) is an oncogene located at chromosome 12 (12q13-15) that inhibits the tumor suppressor gene TP53. The presence of
MDM2 gene locus amplification is a useful molecular adjunct in the evaluation of some sarcomas, including low-grade intramedullary osteosarcoma (LGIOS). JOF and LGIOS have some overlapping clinical and histopathological features. The aim of this study is to evaluate a series of JOF for the presence of
MDM2 gene locus amplification using fluorescence in-situ hybridization (FISH).
METHODS: With IRB approval, a search of the institutional files of the archives of the Oral Pathology and Surgical Pathology biopsy services at the University of Florida Health was performed. The cases were re-evaluated by an oral pathology resident, an oral and maxillofacial pathologist, and a bone and soft tissue pathologist. Cases with consensus in diagnosis were selected (n = 9) for
MDM2 testing. Testing by FISH for
MDM2 gene locus amplification was applied to all retrieved cases.
RESULTS: The examined cases were all negative for MDM2 gene locus amplification via FISH testing.
CONCLUSIONS: In our small series, JOF did not demonstrate MDM2 gene locus abnormality, a characteristic of LGIOS. This finding suggests that JOF has a distinct underlying pathogenesis. If confirmed in a larger series, these findings may be useful in distinguishing these two entities in cases with overlapping features or when minimal biopsy material is available.