Genetic characterization of skull base chondrosarcomas
Genetic characterization of skull base chondrosarcomas
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DOI：
10.3171/2014.12.jns142059
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发表时间：
2015-10-01
影响因子：
4.1
通讯作者：
Sasaki, Hikaru
中科院分区：
文献类型：
--
作者：
Kanamori, Hiroki;Kitamura, Yohei;Sasaki, Hikaru
目的 虽然软骨肉瘤很少发生在颅底，但软骨肉瘤和脊索瘤是发生在该部位的两种主要恶性骨肿瘤。这两种肿瘤的区别很重要，但由于放射学和组织学重叠，这种区别有时会出现问题。与脊索瘤和颅外软骨肉瘤不同，尚未报道对颅底软骨肉瘤（SBCS）进行全基因组分析的病例系列。本研究的目的是阐明 SBCS 的遗传特征，并将其与脊索瘤进行对比。方法 作者使用比较基因组杂交 (CGH) 分析了 7 个 SBCS 样本的染色体拷贝数改变 (CNA)。他们还检查了 IDH1 和 IDH2 突变以及 brachyury 表达。 结果 在 CGH 分析中，作者在 7 例病例中的 6 例中检测到 CNA，包括 8q21.1、19、2q22-q32、5qcen-q14、8q21-q22 和 15qcen-q14 的染色体增益。 IDH1突变频率较高（7例中有5例，71.4%），其中R132S突变最为频繁。未发现 IDH2 突变，所有病例的 brachyury 免疫组织化学染色均为阴性。 结论 据作者所知，这是 SBSC 病例系列的第一个全基因组研究。他们的研究结果表明，这些肿瘤在分子上与传统中央软骨肉瘤的子集一致，但与颅底脊索瘤不同。
OBJECT Although chondrosarcomas rarely arise in the skull base, chondrosarcomas and chordomas are the 2 major malignant bone neoplasms occurring at this location. The distinction of these 2 tumors is important, but this distinction is occasionally problematic because of radiological and histological overlap. Unlike chordoma and extracranial chondrosarcoma, no case series presenting a whole-genome analysis of skull base chondrosarcomas (SBCSs) has been reported. The goal of this study is to clarify the genetic characteristics of SBCSs and contrast them with those of chordomas.METHODS The authors analyzed 7 SBCS specimens for chromosomal copy number alterations (CNAs) using comparative genomic hybridization (CGH). They also examined IDH1 and IDH2 mutations and brachyury expression.RESULTS In CGH analyses, the authors detected CNAs in 6 of the 7 cases, including chromosomal gains of 8q21.1, 19, 2q22-q32, 5qcen-q14, 8q21-q22, and 15qcen-q14. Mutation of IDH1 was found with a high frequency (5 of 7 cases, 71.4%), of which R132S was most frequently mutated. No IDH2 mutations were found, and immunohistochemical staining for brachyury was negative in all cases.CONCLUSIONS To the best of the authors' knowledge, this is the first whole-genome study of an SBSC case series. Their findings suggest that these tumors are molecularly consistent with a subset of conventional central chondrosarcomas and different from skull base chordomas.