骨巨细胞瘤基因组学研究进展

骨巨细胞瘤( giant cell tumor of bone,GCTB)通常被认为是一种交界性骨肿瘤,具体发病机制不详且易复发,目前除了手术暂无其他有效的治疗方案。但随着快速减法杂交( rapid subtractive hybridization,RaSH)和实时定量聚合酶链式反应( quantitative real-time polymerase chain reaction, qRT-PCR)等技术在GCTB研究领域的运用,基因突变、基因表达谱、基因转染及信号通路等基因组学事件在GCTB中得到了进一步的探索。这些研究正逐渐揭示了GCTB的发病机制,同时也改进了这种骨肿瘤的早期诊断及治疗方案。本文旨在总结GCTB基因组学研究现状,以期能发现早期特异性诊断指标,并在此基础上改进治疗方案及减少该病的术后复发率。

Genomics Research Progress of Giant Cell Tumor of Bone

Giant cell tumor of bone (GCTB) is known as a benign and locally aggressive bone tumor in general. It has a trend to recur locally and metasta after surgery. Surgery is the primary mode of treatment and there is no other effective therapeutic method in current, due to the pathogenesis of GCTB is still waiting to uncover. Cancer genomics comes to be a hot-spot as the development of new experimental technique. The research of GCTB genomics makes a contribution to reveal its pathogenesis. A lot of DNA editing events is detected, such as gene expression profile, gene mutation, signal pathway and gene transfection et al. The exploring of GCTB genomics will make a huge progress in both pathogenesis and target therapy.