骨旁骨肉瘤起源于骨周围的骨膜,可向骨外生长,包绕骨干。本病较为罕见,可发生在任何年龄,但30岁以上患者多见,男女发病率相似。临床表现为无痛性肿块生长缓慢,可反复发作,晚期有转移。治疗以手术切除加化疗为主。
然而,最新的检测报道发现在很大一部分骨旁骨肉瘤中有GNAS突变,对该基因突变的特异性提出了质疑。
However, the recent report of GNAS mutations being detected in a significant proportion of parosteal osteosarcoma challenges the specificity of this mutation.
因此我们的研究与先前的研究一致,GNAS的突变在纤维性结构不良中有高度特异性,而在骨旁骨肉瘤和其它低级别骨肉瘤中即使有GNAS突变、也是很少的。
Our findings therefore support prior observations that GNAS mutations are highly specific for fibrous dysplasia and occur rarely, if ever, in parosteal and other low-grade osteosarcomas.
应用推荐