目的探讨USP6基因重排检测在原发性和继发性动脉瘤样骨囊肿(aneurysmal bone cyst,ABC)病理鉴别诊断中的应用价值。方法对20例需要鉴别原发性和继发性的ABC病例(穿刺标本9例,切除标本11例),在常规福尔马林固定石蜡包埋标本上,利用USP6...目的探讨USP6基因重排检测在原发性和继发性动脉瘤样骨囊肿(aneurysmal bone cyst,ABC)病理鉴别诊断中的应用价值。方法对20例需要鉴别原发性和继发性的ABC病例(穿刺标本9例,切除标本11例),在常规福尔马林固定石蜡包埋标本上,利用USP6基因双色分离探针进行染色体荧光原位杂交(fluorescence in situ hybridization,FISH)检测,计数分离阳性细胞,阳性细胞比例>7%视为分离重排阳性。结果 18例可判读荧光信号结果,2例切除标本检测失败。9例USP6基因分离重排阳性(阳性细胞比10%~70%),支持原发性ABC,其中2例为实性亚型;9例USP6基因分离重排阴性(阳性细胞<1%),其中4例经术后标本全面病理检查证实为继发性ABC,分别继发于骨巨细胞瘤2例、纤维结构不良1例和骨母细胞瘤1例。USP6基因断裂重排诊断原发性ABC的敏感性为64%(9/14),特异性为100%(4/4),准确率72%(13/18)。结论利用FISH法检测USP6基因断裂重排对原发性ABC的病理确诊有重要辅助作用,特别有助于穿刺少量标本和临床病理学表现不典型病例的病理诊断。展开更多
泛素特异性蛋白酶6(ubiquitin-specific protease6,USP6)又称TRE17或Tre2,是泛素特异性蛋白酶家族中被最早发现的成员之一。Oliveira等[1]发现在原发性动脉瘤样骨囊肿(aneurysmal bone cyst,ABC)中存在CDH11-USP6基因重排,提示USP6基因...泛素特异性蛋白酶6(ubiquitin-specific protease6,USP6)又称TRE17或Tre2,是泛素特异性蛋白酶家族中被最早发现的成员之一。Oliveira等[1]发现在原发性动脉瘤样骨囊肿(aneurysmal bone cyst,ABC)中存在CDH11-USP6基因重排,提示USP6基因可能具有潜在的致病性。多项研究发现在原发性ABC、结节性筋膜炎(nodular fasciitis,NF)、骨化性肌炎(myositis ossificans,MO)等疾病中存在USP6基因与多种基因发生重排现象。展开更多
原发性动脉瘤样骨囊肿(aneurismal bone cyst,ABC)是一种较为罕见的良性骨肿瘤,通常表现为偏心性、膨胀性、溶骨性破坏,可呈气球样膨胀出骨外。患者通常无明显外伤史,自觉无痛或有轻度压痛,其发病部位及临床表现均具有个体差异性,且影...原发性动脉瘤样骨囊肿(aneurismal bone cyst,ABC)是一种较为罕见的良性骨肿瘤,通常表现为偏心性、膨胀性、溶骨性破坏,可呈气球样膨胀出骨外。患者通常无明显外伤史,自觉无痛或有轻度压痛,其发病部位及临床表现均具有个体差异性,且影像学表现也各不相同。目前认为ABC是由于基因易位重组所引发的疾病[1],因此对于ABC的基因学检查尤为重要。展开更多
BACKGROUND Nodular fasciitis(NF)is a self-limiting tumor that mostly occurs in the subcutaneous superficial fascia.NF originating from the appendicular periosteum is extremely rare.A large NF lesion of periosteal orig...BACKGROUND Nodular fasciitis(NF)is a self-limiting tumor that mostly occurs in the subcutaneous superficial fascia.NF originating from the appendicular periosteum is extremely rare.A large NF lesion of periosteal origin can be misdiagnosed as a malignant bone tumor and may cause overtreatment.CASE SUMMARY A right axillary mass was found in a 46-year-old man and was initially diagnosed intraoperatively as low-grade sarcoma,but later diagnosed as NF after postresection histopathological evaluation.Furthermore,fluorescence in situ hybridization analysis revealed a USP6 gene rearrangement that confirmed the diagnosis.To the best of our knowledge,this is the first case of NF in the humeral periosteum.CONCLUSION NF poses a diagnostic challenge as it is often mistaken for sarcoma.Postoperative histopathological examination of whole sections can be combined with immunohistochemical staining and,if necessary,the diagnosis can be confirmed by molecular detection,and thus help avoid overtreatment.展开更多
文摘目的探讨USP6基因重排检测在原发性和继发性动脉瘤样骨囊肿(aneurysmal bone cyst,ABC)病理鉴别诊断中的应用价值。方法对20例需要鉴别原发性和继发性的ABC病例(穿刺标本9例,切除标本11例),在常规福尔马林固定石蜡包埋标本上,利用USP6基因双色分离探针进行染色体荧光原位杂交(fluorescence in situ hybridization,FISH)检测,计数分离阳性细胞,阳性细胞比例>7%视为分离重排阳性。结果 18例可判读荧光信号结果,2例切除标本检测失败。9例USP6基因分离重排阳性(阳性细胞比10%~70%),支持原发性ABC,其中2例为实性亚型;9例USP6基因分离重排阴性(阳性细胞<1%),其中4例经术后标本全面病理检查证实为继发性ABC,分别继发于骨巨细胞瘤2例、纤维结构不良1例和骨母细胞瘤1例。USP6基因断裂重排诊断原发性ABC的敏感性为64%(9/14),特异性为100%(4/4),准确率72%(13/18)。结论利用FISH法检测USP6基因断裂重排对原发性ABC的病理确诊有重要辅助作用,特别有助于穿刺少量标本和临床病理学表现不典型病例的病理诊断。
文摘原发性动脉瘤样骨囊肿(aneurismal bone cyst,ABC)是一种较为罕见的良性骨肿瘤,通常表现为偏心性、膨胀性、溶骨性破坏,可呈气球样膨胀出骨外。患者通常无明显外伤史,自觉无痛或有轻度压痛,其发病部位及临床表现均具有个体差异性,且影像学表现也各不相同。目前认为ABC是由于基因易位重组所引发的疾病[1],因此对于ABC的基因学检查尤为重要。
基金Supported by Jilin Province Department of Finance Project,No.2019SCZT005,No.2019SRCJ007 and No.2020SCZT007National Natural Science Foundation of China,No.81902342and Health Commission of Jilin Province,No.2019Q002.
文摘BACKGROUND Nodular fasciitis(NF)is a self-limiting tumor that mostly occurs in the subcutaneous superficial fascia.NF originating from the appendicular periosteum is extremely rare.A large NF lesion of periosteal origin can be misdiagnosed as a malignant bone tumor and may cause overtreatment.CASE SUMMARY A right axillary mass was found in a 46-year-old man and was initially diagnosed intraoperatively as low-grade sarcoma,but later diagnosed as NF after postresection histopathological evaluation.Furthermore,fluorescence in situ hybridization analysis revealed a USP6 gene rearrangement that confirmed the diagnosis.To the best of our knowledge,this is the first case of NF in the humeral periosteum.CONCLUSION NF poses a diagnostic challenge as it is often mistaken for sarcoma.Postoperative histopathological examination of whole sections can be combined with immunohistochemical staining and,if necessary,the diagnosis can be confirmed by molecular detection,and thus help avoid overtreatment.
