骨组织中破骨细胞丰富的巨细胞瘤中高迁移率族 AT 钩 2()和核受体共抑制因子 2()基因的反复融合。
Recurrent Fusion of the Genes for High-mobility Group AT-hook 2 () and Nuclear Receptor Co-repressor 2 () in Osteoclastic Giant Cell-rich Tumors of Bone.
机构信息
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway;
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
出版信息
Cancer Genomics Proteomics. 2022 Mar-Apr;19(2):163-177. doi: 10.21873/cgp.20312.
BACKGROUND/AIM: Chimeras involving the high-mobility group AT-hook 2 gene (HMGA2 in 12q14.3) have been found in lipomas and other benign mesenchymal tumors. We report here a fusion of HMGA2 with the nuclear receptor co-repressor 2 gene (NCOR2 in 12q24.31) repeatedly found in tumors of bone and the first cytogenetic investigation of this fusion.
MATERIALS AND METHODS
Six osteoclastic giant cell-rich tumors were investigated using G-banding, RNA sequencing, reverse transcription polymerase chain reaction, Sanger sequencing, and fluorescence in situ hybridization.
RESULTS
Four tumors had structural chromosomal aberrations of 12q. The pathogenic variant c.103_104GG>AT (p.Gly35Met) in the H3.3 histone A gene was found in a tumor without 12q aberration. In-frame HMGA2-NCOR2 fusion transcripts were found in all tumors. In two cases, the presence of an HMGA2-NCOR2 fusion gene was confirmed by FISH on metaphase spreads.
CONCLUSION
Our results demonstrate that a subset of osteoclastic giant cell-rich tumors of bone are characterized by an HMGA2-NCOR2 fusion gene.
背景/目的：高迁移率族蛋白 A2 基因（12q14.3 中的 HMGA2）嵌合体已在脂肪瘤和其他良性间叶肿瘤中发现。我们在此报告一种核受体共抑制因子 2 基因（12q24.31 中的 NCOR2）与 HMGA2 融合的情况，该融合在骨肿瘤中反复出现，这是对该融合的首次细胞遗传学研究。
材料和方法
使用 G 带、RNA 测序、逆转录聚合酶链反应、Sanger 测序和荧光原位杂交技术研究了 6 例富含破骨细胞的巨细胞瘤。
结果
4 例肿瘤存在 12q 结构染色体异常。在没有 12q 异常的肿瘤中发现了 H3.3 组蛋白 A 基因中的致病变异 c.103_104GG>AT（p.Gly35Met）。所有肿瘤均发现了 HMGA2-NCOR2 融合转录本。在两种情况下，通过中期分裂 FISH 证实存在 HMGA2-NCOR2 融合基因。
结论
我们的研究结果表明，骨中富含破骨细胞的巨细胞瘤亚群的特征是存在 HMGA2-NCOR2 融合基因。
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