Diagnostic utility of IDH1/2 mutations to distinguish dedifferentiated chondrosarcoma from undifferentiated pleomorphic sarcoma of bone
Diagnostic utility of IDH1/2 mutations to distinguish dedifferentiated chondrosarcoma from undifferentiated pleomorphic sarcoma of bone
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DOI：
10.1016/j.humpath.2017.05.015
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发表时间：
2017-07-01
期刊：
影响因子：
3.3
通讯作者：
Cheng, Liang
中科院分区：
文献类型：
--
作者：
Chen, Shaoxiong;Fritchie, Karen;Cheng, Liang
在组织学上，当低级别软骨成分缺失时，几乎不可能区分去分化软骨肉瘤的去分化成分和骨的未分化多形性肉瘤（UPS）。以前的研究表明，异柠檬酸脱氢酶1（IDH 1）和IDH 2突变存在于大量的软骨肿瘤，包括最传统的软骨肉瘤和去分化软骨肉瘤。这些突变尚未在骨的UPS中进行研究。我们试图研究IDH 1或IDH 2突变标记是否可以用作区分软骨肉瘤去分化成分与骨UPS的临床诊断标志物。收集68例骨肿瘤病例，包括31例常规软骨肉瘤、23例去分化软骨肉瘤和14例骨UPS，使用Qiagen IDH 1/2 RGQ PCR试剂盒或使用全外显子组测序进行IDHI/2突变分析。IDH 1/2突变在87%（20/23）的去分化软骨肉瘤和30%（6/20）的普通软骨肉瘤中检出。在14例骨组织中未发现IDH 1/2第132和172位密码子突变。IDH 1或IDH 2突变的鉴定支持去分化软骨肉瘤而不是骨UPS的诊断，同时也为这2种病变的发病机制提供了一些见解。(C)2017爱思唯尔公司All rights reserved.
Histologically, it is nearly impossible to distinguish the dedifferentiated component of dedifferentiated chondrosarcoma from undifferentiated pleomorphic sarcoma (UPS) of bone when the low-grade cartilaginous component is absent. Previous studies have revealed that isocitrate dehydrogenase 1 (IDH1) and IDH2 mutations are present in a significant number of cartilaginous tumors including most conventional chondrosarcomas and dedifferentiated chondrosarcomas. These mutations have not been studied in UPSs of bone. We sought to investigate whether an IDH1 or IDH2 mutation signature could be used as a clinically diagnostic marker for the distinction of dedifferentiated component of chondrosarcoma from UPS of bone. Sixty-eight bone tumor cases, including 31 conventional chondrosarcomas, 23 dedifferentiated chondrosarcomas, and 14 UPSs of bone, were collected for IDHI/2 mutation analysis either using the Qiagen IDH1/2 RGQ PCR Kit or using whole-exome sequencing. IDH1/2 mutations were detected in 87% (20/23) of dedifferentiated chondrosarcomas and 30% (6/20) of conventional chondrosarcomas. No mutations were detected in the IDH1/2 codon 132 or codon 172 among 14 UPSs of bone. Identification of IDH1 or IDH2 mutations supports the diagnosis of dedifferentiated chondrosarcoma rather than UPS of bone while also providing some insight into the pathogenesis of these 2 lesions. (C) 2017 Elsevier Inc. All rights reserved.