Abstract：
Cemento-osseous dysplasia (COD) belongs to the spectrum of benign fibro-osseous lesions occurring exclusively in the tooth-bearing areas of the jaws. Depending on site and extent of involvement, periapical, focal and florid subtypes can be distinguished that share an identical histomorphology. Most cases are asymptomatic and follow a self-limited course requiring no specific treatment. Over time, lesions progressively mineralise while the cellularity decreases. However, the molecular pathogenesis of COD, has not yet been explored. We analysed a series of 31 COD samples by targeted sequencing and detected pathogenic hotspot mutations involving the RAS-MAPK signalling pathway in 5/18 evaluable cases (28%). The mutations were found in the BRAF, HRAS, KRAS, NRAS, and FGFR3 genes. Our findings suggest that COD is driven by RAS-MAPK activation; however, the mechanism underlying the spontaneous growth arrest typically occuring in most of the lesions remains elusive.
摘要：
骨性发育不良（COD）属于良性纤维骨性病变的范围，仅发生在颌骨的牙齿支撑区域。根据参与的地点和程度，根尖周，可以区分具有相同组织形态的局灶性和花语亚型。大多数病例是无症状的，并且遵循不需要特殊治疗的自限病程。随着时间的推移,病变逐渐矿化，而细胞减少。然而,COD的分子发病机制，尚未探索。我们通过靶向测序分析了一系列31个COD样品，并在5/18个可评估病例（28％）中检测到涉及RAS-MAPK信号通路的致病热点突变。在BRAF中发现了突变，HRAS,KRAS,NRAS,和FGFR3基因。我们的研究结果表明，COD是由RAS-MAPK激活驱动的；然而，通常发生在大多数病变中的自发生长停滞的潜在机制仍然难以捉摸。
