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GNAS mutations are not detected in parosteal and low-grade central osteosarcomas.

骨旁骨肉瘤与低级别中央型骨肉瘤未检出GNAS突变

Salinas-Souza C,De Andrea C,Bihl M,Kovac M,Pillay N,Forshew T,Gutteridge A,Ye H,Amary MF,Tirabosco R,Toledo SR,Baumhoer D,Flanagan AM

Abstract

Parosteal osteosarcoma, low-grade central osteosarcoma, and fibrous dysplasia share similar histological features that may pose a diagnostic challenge. The detection of GNAS mutations in primary bone tumors has been useful in clinical practice for diagnosing fibrous dysplasia. However, the recent report of GNAS mutations being detected in a significant proportion of parosteal osteosarcoma challenges the specificity of this mutation. As the number of cases reported in this study was small we set out to determine if these results could be reproduced. We studied 97 formalin-fixed paraffin-embedded low-grade osteosarcomas from 90 patients including 62 parosteal osteosarcomas, of which MDM2 amplification was detected in 79%, 11 periosteal osteosarcomas and 24 low-grade central osteosarcoma samples. The mutational status of GNAS was analyzed in codons p.R201, p.Q227, and other less common GNAS alterations by bidirectional Sanger sequencing and/or next generation sequencing using the Life Technologies Ion Torrent platform. GNAS mutations were not detected in any of the low-grade osteosarcomas from which informative DNA was extracted. 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.

摘要

骨旁骨肉瘤、低级别中央型骨肉瘤和纤维性结构不良具组织学特征相似,这可能会给诊断带来挑战。原发性骨肿瘤中检出GNAS突变有利于临床诊断纤维性结构不良。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。因为报道中这类案例的数量很少,我们想确定是否能复制出这样的结论。我们研究了97例来自于90个低级别骨肉瘤患者的标本,经福尔马林固定、石蜡包埋,其中包括62例骨旁骨肉瘤(其中检测到MDM2扩增的占79%),11例骨膜骨肉瘤,24例低级别中心性骨肉瘤样本。分析在密码子 p.R201, p.Q227位置上的突变,并通过Life Technologies Ion Torrent的双向Sanger测序或/和下一代测序检测其它不常见的GNAS改变的价值。结果发现所有低级别骨肉瘤中提取的DNA均未发现GNAS突变。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。

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