【佳学基因检测】USP6基因重排的荧光原位杂交检测对原发性动脉瘤性骨囊肿诊断的验证

上海肿瘤基因检测机构机会

参加三甲医师职称提升肿瘤学培训时，了解到《Ann Clin Lab Sci》在.2019 Sep;49(5):590-597.发表了一篇题目为《USP6基因重排的荧光原位杂交检测对原发性动脉瘤性骨囊肿诊断的验证》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Lan Li, Marilyn M Bui, Ming Zhang, Xiaoqi Sun, Gang Han, Tingting Zhang, Xiaoyuan Huang, Yi Ding等完成。促进了原发性动脉瘤性骨囊肿的精准治疗与个性化用药的发展，进一步强调了基因信息检测与分析原发性动脉瘤性骨囊肿重要性。

原发性动脉瘤性骨囊肿靶向药物及精准治疗临床研究内容关键词：

额外域A,成纤维细胞,破骨细胞生成,根囊肿,血管内皮生长因子

肿瘤靶向治疗基因检测临床应用结果

原发性动脉瘤性骨囊肿研究目标：据报道，大约 70%-75% 的动脉瘤性骨囊肿病例中存在泛素特异性蛋白酶 6 (USP6) 基因重排，需要通过基因检测进行明确。基因解码基因检测假设该标志物的荧光原位杂交 (FISH) 检测将有助于原发性动脉瘤性骨囊肿 (ABC)、继发性动脉瘤性骨囊肿、骨巨细胞瘤 (GCT) 和毛细血管扩张性骨肉瘤 (TOS) 的病理分化。形态相似。动脉瘤性骨囊肿的基因解码旨在评估该测试的功效并验证其是否可用于诊断。动脉瘤性骨囊肿基因解码程序：使用双色 USP6 基因分离探针在原发性动脉瘤性骨囊肿、继发性动脉瘤性骨囊肿、骨巨细胞瘤和毛细血管扩张性骨肉瘤中进行 FISH。计算敏感性、特异性、阳性预测值和阴性预测值。基因解码基因检测的研究结果：原发性动脉瘤性骨囊肿显示USP6重排。所有继发性动脉瘤性骨囊肿、骨巨细胞瘤和毛细血管扩张性骨肉瘤均为阴性。原发性动脉瘤性骨囊肿 的基因检测敏感性和特异性分别为 53% (9/17) 和 100% (18/18)。阳性预测值和阴性预测值分别为100%（9/9）和69%（18/26）。基因解码基因检测的研究结论：FISH检测到的USP6基因断裂被本实验室验证为原发性动脉瘤性骨囊肿的新型诊断工具。 .该试验可用于研究近期USP6靶向治疗对原发性ABC的预测价值。荧光原位杂交；骨巨细胞瘤； USP6 基因。

肿瘤发生与复发转移国际数据库描述：

Goals: Ubiquitin specific protease 6 (USP6) gene rearrangement has been reported in approximately 70%-75% of aneurysmal bone cyst cases. We hypothesize that fluorescence in situ hybridization (FISH) testing of this marker will be useful in the pathological differentiation of primary aneurysmal bone cyst (ABC), secondary ABC, giant cell tumor of bone (GCT), and telangiectatic osteosarcoma (TOS) which are morphologically similar. This study aims to evaluate the efficacy of this test and validate it for diagnostic use.Procedures: FISH was performed in primary ABC, secondary ABC, GCT and TOS using dual color USP6 gene break apart probes. The sensitivity, specificity, positive predictive value, and negative predictive values were calculated.Results: Primary ABC demonstrates USP6 rearrangement. All secondary ABC, GCT and TOS were negative. The test sensitivity and specificity in primary ABC were 53% (9/17) and 100% (18/18), respectively. The positive predictive value and negative predictive value were 100% (9/9) and 69% (18/26), respectively.Conclusion: The USP6 gene break apart detected by FISH is validated as a novel diagnostic tool for primary ABC in our laboratory. This test could be used to study the predictive value of USP6 targeted therapy for primary ABC in the near future.Keywords: Aneurysmal bone cyst; Fluorescence in situ hybridization; Giant cell tumor of bone; USP6 gene.