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Mutation Analysis of H3F3A and H3F3B as a Diagnostic Tool for Giant Cell Tumor of Bone and Chondroblastoma.

H3F3A和H3F3B的突变分析可作为骨巨细胞瘤和软骨母细胞瘤的诊断工具之一

Cleven AH,Höcker S,Briaire-de Bruijn I,Szuhai K,Cleton-Jansen AM,Bovée JV

Abstract

Specific H3F3A driver mutations and IDH2 mutations were recently described in giant cell tumor of bone (GCTB) and H3F3B driver mutations in chondroblastoma; these may be helpful as a diagnostic tool for giant cell-containing tumors of the bone. Using Sanger sequencing, we determined the frequency of H3F3A, H3F3B, IDH1, and IDH2 mutations in GCTBs (n=60), chondroblastomas (n=12), and other giant cell-containing tumors (n=24), including aneurysmal bone cyst, chondromyxoid fibroma, and telangiectatic osteosarcoma. To find an easy applicable marker for H3F3A mutation status, H3K36 trimethylation and ATRX expression were correlated with H3F3A mutations. In total, 69% of all GCTBs harbored an H3F3A (G34W/V) mutation compared with 0% of all other giant cell-containing tumors (P<0.001), whereas 70% of chondroblastomas showed an H3F3B (K36M) mutation compared with 0% of other giant cell-containing tumors (P<0.001). Diffuse H3K36 trimethylation positivity was more often seen in mutated H3F3A GCTBs compared with other giant cell-containing tumors (P=0.005). ATRX protein expression was not correlated with H3F3A mutation status. Hotspot mutations in IDH1 or IDH2 were absent. Our results show that H3F3A and H3F3B mutation analysis appears to be a highly specific, although less sensitive, diagnostic tool for the distinction of GCTB and chondroblastoma from other giant cell-containing tumors. Although H3K36 trimethylation and ATRX immunohistochemistry cannot be used as surrogate markers for H3F3A mutation status, mutations in H3F3A are associated with increased H3K36 trimethylation, suggesting that methylation at this residue may play a role in the etiology of the disease.

摘要

最近有报道,骨巨细胞瘤(GCTB)中发现特异性H3F3A驱动突变和IDH2突变,软骨母细胞瘤中发现H3F3B驱动突变。这些突变可作为诊断工具之一,有助于诊断骨中含有巨细胞的肿瘤对60例GCTBs、12例软骨母细胞瘤以及24例其它含有巨细胞的肿瘤(后者包括动脉瘤样骨囊肿、软骨黏液样纤维瘤和血管扩张性骨肉瘤)用Sanger测序法检测H3F3A、H3F3B、IDH1和IDH2的突变频率。研究目的是试图发现简单适用的指标来标记H3F3A突变状态,观察H3K36三甲基化和ATRX的表达与H3F3A突变是否相关。研究结果:69%的GCTBs有H3F3A (G34W/V)突变,所有其它含有巨细胞的肿瘤中均未发现H3F3A (G34W/V)突变(P<0.001)。70%的软骨母细胞瘤显示H3F3B (K36M)突变,其它含有巨细胞的肿瘤中均为发现H3F3B (K36M)突变(P<0.001)。与其它含有巨细胞的肿瘤相比,H3F3A突变的GCTBs更常见弥漫性H3K36三甲基化阳性(P=0.005)。ATRX蛋白表达与H3F3A突变状态不相关。缺乏IDH1和IDH2热点突变。我们的结果显示,H3F3A和H3F3B的突变分析特异性很高,尽管敏感性低,还是可作为诊断工具之一把GCTB和软骨母细胞瘤及其它含有巨细胞的肿瘤区分开来。尽管H3K36三甲基化和ATRX免疫组化检测不能用作H3F3A突变状态的替代指标,但H3F3A突变与H3K36三甲基化增强相关,提示甲基化可能在该疾病病因学方面发挥一定作用。

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