{"title":"Molecular pathogenetic options for differentiating fibrous dysplasia and ossifying fibroma: A systematically conducted literature review","authors":"Raniah Abdullah Al Eid","doi":"10.1016/j.ajoms.2025.06.001","DOIUrl":null,"url":null,"abstract":"<div><h3>Objectives</h3><div><span>A diverse set of lesions known as fibro-osseous lesions (FOLs) have overlapping clinical, radiological, and histopathological features, resulting in diagnostic and therapeutic challenges. Distinguishing between fibrous dysplasia<span> (FD) and ossifying fibroma (OF) lesions is particularly difficult owing to their overlapping characteristics. Therefore, we conducted a </span></span>systematic literature review of the molecular pathogenetic approaches for differentially diagnosing FD and OF.</div></div><div><h3>Methods</h3><div><span>Databases, including Web of Science, PubMed, </span>Scopus<span>, and the Cochrane Library, were used as data sources for this study. Data were obtained from a database using manual snowball searches and predefined search phrases. To prevent selection bias, independent reviewers conducted screening, and only 13 articles that directly addressed the research issue were included.</span></div></div><div><h3>Results</h3><div><span><span>Nine molecular differential diagnostic approaches for differentiating the two lesions were identified in the assessment of the included papers. The most popular molecular pathogenetic method for FD and OF differentiation was mutation analysis of the guanine nucleotide-binding protein alpha-subunit (GNAS) gene using various techniques, including </span>pyrosequencing, direct </span>DNA sequencing<span>, polymerase chain reaction<span> (PCR), real-time polymerase chain reaction (qPCR), high-resolution melting, and allele-specific PCR.</span></span></div></div><div><h3>Conclusions</h3><div><span>These molecular diagnostic<span> options enable differentiation of FD and OF, but combining two or more techniques, particularly with other molecular markers alongside the GNAS mutation on exon 8, may further improve the differential diagnosis. We recommend </span></span>clinical trials to combine these molecular options with other appropriate approaches to improve the differential diagnosis of FD and OF with increased detection sensitivity.</div></div>","PeriodicalId":45034,"journal":{"name":"Journal of Oral and Maxillofacial Surgery Medicine and Pathology","volume":"37 6","pages":"Pages 1283-1293"},"PeriodicalIF":0.4000,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Oral and Maxillofacial Surgery Medicine and Pathology","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2212555825001267","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"DENTISTRY, ORAL SURGERY & MEDICINE","Score":null,"Total":0}
引用次数: 0
Abstract
Objectives
A diverse set of lesions known as fibro-osseous lesions (FOLs) have overlapping clinical, radiological, and histopathological features, resulting in diagnostic and therapeutic challenges. Distinguishing between fibrous dysplasia (FD) and ossifying fibroma (OF) lesions is particularly difficult owing to their overlapping characteristics. Therefore, we conducted a systematic literature review of the molecular pathogenetic approaches for differentially diagnosing FD and OF.
Methods
Databases, including Web of Science, PubMed, Scopus, and the Cochrane Library, were used as data sources for this study. Data were obtained from a database using manual snowball searches and predefined search phrases. To prevent selection bias, independent reviewers conducted screening, and only 13 articles that directly addressed the research issue were included.
Results
Nine molecular differential diagnostic approaches for differentiating the two lesions were identified in the assessment of the included papers. The most popular molecular pathogenetic method for FD and OF differentiation was mutation analysis of the guanine nucleotide-binding protein alpha-subunit (GNAS) gene using various techniques, including pyrosequencing, direct DNA sequencing, polymerase chain reaction (PCR), real-time polymerase chain reaction (qPCR), high-resolution melting, and allele-specific PCR.
Conclusions
These molecular diagnostic options enable differentiation of FD and OF, but combining two or more techniques, particularly with other molecular markers alongside the GNAS mutation on exon 8, may further improve the differential diagnosis. We recommend clinical trials to combine these molecular options with other appropriate approaches to improve the differential diagnosis of FD and OF with increased detection sensitivity.
目的纤维-骨性病变(FOLs)具有重叠的临床、放射学和组织病理学特征,给诊断和治疗带来了挑战。区分纤维性发育不良(FD)和骨化性纤维瘤(OF)病变是特别困难的,因为它们的重叠特征。因此,我们对鉴别诊断FD和of的分子病理学方法进行了系统的文献综述。方法采用Web of Science、PubMed、Scopus、Cochrane Library等数据库作为本研究的数据来源。使用手动滚雪球搜索和预定义的搜索短语从数据库中获得数据。为防止选择偏倚,独立审稿人进行了筛选,只纳入了13篇直接涉及研究问题的文章。结果通过对文献的评价,确定了两种病变的分子鉴别诊断方法。FD和OF分化最流行的分子病理学方法是使用各种技术对鸟嘌呤核苷酸结合蛋白α -亚基(GNAS)基因进行突变分析,包括焦磷酸测序、直接DNA测序、聚合酶链反应(PCR)、实时聚合酶链反应(qPCR)、高分辨率熔化和等位基因特异性PCR。结论这些分子诊断方法能够区分FD和of,但结合两种或两种以上的技术,特别是与外显子8上GNAS突变的其他分子标记结合,可能进一步提高FD和of的鉴别诊断。我们建议临床试验将这些分子选择与其他适当的方法相结合,以提高FD和of的鉴别诊断,提高检测灵敏度。