侵袭性骨肿瘤中RB基因及其蛋白产物表达的研究

目的探讨抑癌基因ＲＢ的改变与骨肿瘤的关系。方法采用地高辛标记的ＲＢｃＤＮＡ探针对３４例侵袭性骨肿瘤组织及同体正常软组织进行ＳｏｕｔｈｅｒｎＢｌｏｔ检测，同时应用ＬＳＡＢ免疫组化法对９９例侵袭性骨肿瘤及１４例瘤旁软组织进行ＲＢ蛋白表达的检测。结果２１例骨肉瘤中有９例可检出ＲＢ基因的结构异常（４２．９％），ＲＢ蛋白的缺失仅在２６．９％（７／２６）的骨肉瘤和２１．７％（５／２３）的软骨肉瘤中检测到，良性的骨巨细胞瘤和软骨母细胞瘤中未检出ＲＢ蛋白的缺失，其二者差异有意义（Ｐ＜０．０５）；分化差、异型性明显的骨肉瘤细胞其ＲＢ蛋白表达为阴性，低分化的软骨肉瘤及间叶性软骨肉瘤其ＲＢ蛋白亦多为阴性。结论ＲＢ基因结构的异常、ＲＢ蛋白的缺失，可能与骨的恶性肿瘤的发生及其演进有关。

Alterations of retinoblastoma gene and its protein expression in aggressive bone tumors

OBJECTIVE: To study the association between RB gene and the oncogenesis of bone tumors. METHODS: Southern blot and immunohistochemical techniques were used to detect the structural anomalies of RB gene in 34 cases of bone tumors and the expression of RB protein in 99 paraffin-embedded bone neoplasma. RESULTS: The deletion and/or rearrangement of RB gene were detected only in 42.9% (9/21) of osteosarcoma; lack of RB protein expression was noticed in 12 cases including 7 cases of osteosarcoma (7/26, 26.9%) and 5 cases of chondrosarcoma (5/23, 21.7%). Beniga giant cell tumor of bone and chondroblastoma showed positive RB protein expression; osteosarcoma cells presenting poor differentiation and apparent atypia all showed no expression of RB protein. Most of the high-grade chondrosarcoma also had no RB protein expression. CONCLUSION: The alterations of RB gene and loss of RB protein may play a role in the pathogenesis and progression of malignant bone neoplasms.