[1]杨邵敏**,由江峰,齐双双,等.SP6基因重排检测在动脉瘤样骨囊肿病理诊断中应用的初步探讨[J].中国微创外科杂志,2018,18(2):151-158.
　Yang Shaomin,You Jiangfeng,Qi Shuangshuang,et al.A Primary Study of USP6 Gene Rearrangement Detection in the Pathological Diagnosis of Aneurysmal Bone Cyst[J].Chinese Journal of Minimally Invasive Surgery,2018,18(2):151-158.
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SP6基因重排检测在动脉瘤样骨囊肿病理诊断中应用的初步探讨()
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《中国微创外科杂志》[ISSN:1009-6604/CN:11-4526/R]

卷:
18
期数:
2018年2期
页码:
151-158
栏目:
病理学研究
出版日期:
2018-03-30

文章信息/Info

Title:
A Primary Study of USP6 Gene Rearrangement Detection in the Pathological Diagnosis of Aneurysmal Bone Cyst
作者:
杨邵敏**; 由江峰; 齐双双; 王华
北京大学基础医学院病理学系，北京100191
Author(s):
Yang Shaomin;  You Jiangfeng;  Qi Shuangshuang;  et al.
Department of Pathology, School of Basic Medical Science, Peking University, Beijing 100191, China
关键词:
动脉瘤样骨囊肿; 荧光原位杂交; USP6基因
Keywords:
Aneurysmal bone cyst; Fluorescence in situ hybridization; USP6 gene
文献标志码:
A
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。
Abstract:
ObjectiveTo investigate the value of USP6 gene rearrangement in the pathological differentiation of primary and secondary aneurysmal bone cyst (ABC). MethodsFluorescence 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.ResultsThe 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.ConclusionUSP6 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.

参考文献/References:

[1]Christopher DM,Fletcher JAB,Pancras CW,et al.WHO Classification of Tumors of Soft Tissue and Bone.4th ed.Lyon: International Agency for Research on Cancer（IARC）,2013.348-349.
[2]Oliveira AM,PerezAtayde AR,Inwards CY,et al.USP6 and CDH11 oncogenes identify the neoplastic cell in primary aneurysmal bone cysts and are absent in socalled secondary aneurysmal bone cysts.Am J Pathol 2004,165(5):1773-1780.
[3]Paulding CA,Ruvolo M,Haber DA.The Tre2 (USP6) oncogene is a hominoidspecific gene.Proc Natl Acad Sci U S A,2003,100(5):2507-2511.
[4]Wei R,Liu X,Yu W,et al.Deubiquitinases in cancer.Oncotarget,2015,6(15):12872-12889.
[5]Quick L,Young R,Henrich IC,et al.Jak1STAT3 signals are essential effectors of the USP6/TRE17 oncogene in tumorigenesis.Cancer Res,2016,76(18):5337-5347.
[6]Lau AW,Pringle LM,Quick L,et al.TRE17/ubiquitinspecific protease 6 (USP6) oncogene translocated in aneurysmal bone cyst blocks osteoblastic maturation via an autocrine mechanism involving bone morphogenetic protein dysregulation.J Biol Chem， 2010,285(47):37111-37120.
[7]Ye Y,Pringle LM,Lau AW,et al.TRE17/USP6 oncogene translocated in aneurysmal bone cyst induces matrix metalloproteinase production via activation of NFkappaB.Oncogene,2010,29(25):3619-3629.
[8]Shooshtarizadeh T,Movahedinia S,Mostafavi H,et al.Aneurysmal bone cyst:a analysis of 38 cases and report of four unusual surface ones.Arch Bone Jt Surg,2016,4(2):166-172.9van de Luijtgaarden AC,Veth RP,Slootweg PJ,et al.Metastatic potential of an aneurysmal bone cyst.Virchows Arch,2009,455(5):455-459.
[10]Tsagozis P,Brosjo O.Current strategies for the treatment of aneurysmal bone cysts.Orthop Rev (Pavia),2015,7(4):6182.
[11]Pauli C,Fuchs B,Pfirrmann C,et al.Response of an aggressive periosteal aneurysmal bone cyst (ABC) of the radius to denosumab therapy.World J Surg Oncol,2014,12:17.
[12]Johnson EM,Caracciolo JT.Solid variant aneurysmal bone cyst in the distal fibular metaphysis:radiologic and pathologic challenges to diagnosis.Radiol Case Rep,2017,12(3):555-559.
[13]Singh A,Majeed A,Mallick S,et al.Solid variant of aneurysmal bone cyst masquerading as malignancy.J Clin Diagn Res,2017,11(7):ED35-ED36.
[14]孙昆昆，沈丹华.椎体肿物.中华病理学杂志，2009,38(9):628-629.
[15]Agaram NP,LeLoarer FV,Zhang L,et al.USP6 gene rearrangements occur preferentially in giant cell reparative granulomas of the hands and feet but not in gnathic location.Hum Pathol,2014,45(6):1147-1152.
[16]EricksonJohnson MR,Chou MM,Evers BR,et al.Nodular fasciitis:a novel model of transient neoplasia induced by MYH9USP6 gene fusion.Lab Invest,2011,91(10):1427-1433.
[17]Sukov WR,Franco MF,EricksonJohnson M,et al.Frequency of USP6 rearrangements in myositis ossificans,brown tumor,and cherubism:molecular cytogenetic evidence that a subset of “myositis ossificanslike lesions” are the early phases in the formation of softtissue aneurysmal bone cyst.Skeletal Radiol,2008,37(4):321-327.

备注/Memo

备注/Memo:
基金项目：国家自然科学基金青年基金（81302335）**通讯作者，E-mail：yangshaomin@bjmu.edu.cn
更新日期/Last Update: 2018-05-10