Gene Expression Profiling of Fibrous Dysplasia Reveals ADAMTS2 Overexpression as a Potential Marker

Fibrous dysplasia (FD) as an abnormal bone growth is one of the common fibro-osseous lesions (FOL) in oral and maxillofacial region; however, its etiology still remains unclear. Here, we performed gene expression profiling of FD using microarray analysis to explore the key molecule events in FD development, and develop potential diagnostic markers or therapeutic targets for FD. We found that 3,973 genes exhibited differential expression with more than twofold changes in FD compared with normal bone tissue, including 2,354 genes upregulated and 1,619 genes downregulated. Pathway analysis indicated that obviously overactivated pathways are ribosome and ECM-receptor interaction pathways; downregulated pathways are “Hepatitis C” and “cancer” signaling pathways. We further validated the expression of ADAMTS2, one of most differentiated expressed genes, by immunohistochemistry in 40 of the FD cases. We found that ADAMTS2 was significantly overexpressed in FD tissues, but rarely expressed in normal bone tissues, suggesting that ADAMTS2 could be a potential biomarker for FD. Thus, this study uncovered differentially expressed candidate genes in FD, which provides pilot data for understanding FD pathogenesis, and developing novel biomarkers for diagnosis and targeting of FD.