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荧光原位杂交评估少年骨化性纤维瘤中 MDM2 基因座扩增。

Assessment of MDM2 Gene Locus Amplification by Fluorescence In-Situ Hybridization in Juvenile Ossifying Fibroma.

机构信息

Department of Oral and Maxillofacial Diagnostic Sciences, College of Dentistry, Qassim University, Buraydah, Saudi Arabia.

Department of Oral and Maxillofacial Surgery and Pathology, University of Mississippi Medical Center, Jackson, MS, USA.

出版信息

Head Neck Pathol. 2024 Aug 6;18(1):71. doi: 10.1007/s12105-024-01682-x.

Abstract

UNLABELLED

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).

MATERIALS AND 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.

CONCLUSION

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.

摘要

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少年骨化性纤维瘤(JOF)是一种罕见的颌骨良性纤维骨病变(BFOL),具有局部侵袭性和高复发率。双微体 2(MDM2)是一种位于 12 号染色体(12q13-15)上的癌基因,可抑制肿瘤抑制基因 TP53。MDM2 基因座扩增的存在是评估某些肉瘤(包括低度髓内骨肉瘤(LGIOS))的有用分子辅助手段。JOF 和 LGIOS 具有一些重叠的临床和组织病理学特征。本研究旨在使用荧光原位杂交(FISH)评估一系列 JOF 中 MDM2 基因座扩增的存在情况。

材料和方法

经机构审查委员会批准,对佛罗里达大学健康口腔病理学和外科病理学活检服务机构档案中的机构文件进行了检索。由一名口腔病理学住院医师、一名口腔颌面病理学家和一名骨与软组织病理学家重新评估病例。选择具有共识诊断的病例(n=9)进行 MDM2 检测。对所有检索到的病例进行 FISH 检测 MDM2 基因座扩增。

结果

通过 FISH 检测,所有检查病例均未显示 MDM2 基因座扩增。

结论

在我们的小系列中,JOF 未显示 MDM2 基因座异常,这是 LGOIS 的特征。这一发现表明 JOF 具有独特的发病机制。如果在更大的系列中得到证实,这些发现可能有助于在具有重叠特征的病例中或在可用的最小活检材料的情况下区分这两种实体。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d27/11303346/08388c3076e4/12105_2024_1682_Fig3_HTML.jpg

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