摘要
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。
Objective To investigate the value of USP6 gene rearrangement in the pathological differentiation of primary and secondary aneurysmal bone cyst(ABC). Methods Fluorescence in situ hybridization(FISH)analysis was performed in 20 cases of routine formalin fixed paraffin embedded tissues using dual color USP6 gene breaking apart probes.Nine samples were obtained by core biopsy,and 11 were resected by surgery.The breaking apart positive cells were observed and counted.The cases with positive cells>7%were judged as positive. Results The immunofluorescence staining could be interpreted in 18 cases,while no satisfactory signal could be detected in 2 cases.The USP6 gene breaking apart was observed in 9 cases(positive cells varied from 10%to 70%),being supported to be primary ABC,including 2 cases of solid variant.It was negative in the other 9 cases(positive cells<1%),among which 4 cases were confirmed to be secondary ABC by comprehensive pathology examination on the postoperative samples,derived from giant cell tumor of bone(2 cases),osteoblastoma(1 case),and fibrous dysplasia(1 case).The sensitivity,specificity and accuracy of USP6 gene breaking apart in primary ABC were 64%(9/14),100%(4/4)and 72%(13/18),respectively. Conclusion USP6 gene break apart detected by FISH method is helpful for the pathological diagnosis of primary ABC,especially for small samples obtained by biopsy and lesions with uncommon clinical or histological features.
作者
杨邵敏
由江峰
齐双双
王华
Yang Shaomin;You Jiangfeng;Qi Shuangshuang(Department of Pathology,School of Basic Medical Science,Peking University,Beijing 100191,China)
出处
《中国微创外科杂志》
CSCD
北大核心
2018年第2期151-154,158,共5页
Chinese Journal of Minimally Invasive Surgery
基金
国家自然科学基金青年基金(81302335)
