MDM2 RNA原位杂交在非典型性脂肪瘤性肿瘤/高分化脂肪肉瘤及去分化脂肪肉瘤中的诊断价值  

Diagnostic value of MDM2 RNA in situ hybridization in atypical lipomatous tumor/well-differentiated liposarcoma and dedifferentiated liposarcoma

作　　者：陈晨[1] 何鑫[1] 荆文奕 邱琰[1] 陈敏[1] 罗添友[1] 刘晓羽[1] 陈卉娇[1] 张红英[1] 步宏[1] Chen Chen;He Xin;Jing Wenyi;Qiu Yan;Chen Min;Luo Tianyou;Liu Xiaoyu;Chen Huijiao;Zhang Hongying;Bu Hong(Department of Pathology,West China Hospital,Sichuan University,Chengdu 610041,China)

机构地区：[1]四川大学华西医院病理科,成都610041

出　　处：《中华病理学杂志》2022年第3期190-195,共6页Chinese Journal of Pathology

基　　金：国家自然科学基金(81972520);四川省科技厅重点研发项目(2020YFS0270);四川大学华西医院学科卓越发展135工程临床研究孵化项目(2018HXFH011)。

摘　　要：目的探讨MDM2 RNA原位杂交(RNA in situ hybridization,RNA-ISH)在非典型性脂肪瘤性肿瘤/高分化脂肪肉瘤(atypical lipomatous tumor/well-differentiated liposarcoma,ALT/WDL)及去分化脂肪肉瘤(dedifferentiated liposarcoma,DDL)中的诊断价值。方法纳入四川大学华西医院病理科2017年3月至2019年5月诊断的ALT/WDL/DDL共26例,对照组病例18例,行MDM2 RNA-ISH,并且与荧光原位杂交(FISH)、免疫组织化学(IHC)结果进行比较。结果所有样本均成功进行上述3种方法学检测。在26例ALT/WDL/DDL中,所有病例均呈MDM2扩增(26/26,100%),MDM2 RNA-ISH均为阳性(26/26,100%)。MDM2 IHC显示24例呈阳性(24/26,92.3%),2例为阴性(2/26,7.7%)。18例对照组病例中MDM2 FISH及MDM2 RNA-ISH均为阴性,15例(15/18)MDM2 IHC阴性。MDM2 RNA-ISH灵敏度及特异度均为100%。MDM2 IHC灵敏度及特异度分别为92.3%和83.3%。在MDM2 RNA-ISH阳性ALT/WDL/DDL中,所有病例均呈弥漫染色,而在MDM2 IHC阳性病例中,仅8/24(33.3%)呈弥漫阳性。在11例以组织芯片形式评估的ALT/WDL/DDL样本中,MDM2 RNA-ISH阳性比例为11/11,所有病例呈弥漫染色,MDM2 IHC阳性比例为9/11,其中仅1/9病例呈弥漫染色。MDM2 RNA-ISH结果与FISH完全一致,和IHC具有较高的一致性(Kappa=0.763,P<0.001)。结论MDM2 RNA-ISH在ALT/WDL/DDL中与FISH具有高度一致性,灵敏度及特异度均高于IHC,且信号更为弥漫,具有较高的诊断价值。Objective To investigate the value of MDM2 RNA in situ hybridization(RNA-ISH)in diagnosing atypical lipomatous tumor/well-differentiated liposarcoma(ALT/WDL)and dedifferentiated liposarcoma(DDL).Methods A total of 26 ALT/WDL/DDLs diagnosed from March 2017 to May 2019 in West China Hospital,Sichuan University,Chengdu,China and 18 control cases were included.MDM2 RNA-ISH was performed on all samples and compared with the fluorescence in situ hybridization(FISH)and immunohistochemistry(IHC)regarding their performance in detecting MDM2.Results All samples were detected successfully using the three methods.Among 26 ALT/WDL/DDLs,all cases showed MDM2 amplification and positivity for MDM2 RNA-ISH(26/26,100%).Twenty-four(24/26,92.3%)of the 26 tested cases were positive for MDM2 IHC while two of them were negative.Eighteen control cases were all negative for MDM2 FISH and RNA-ISH,and 15(15/18)cases were negative for MDM2 IHC.The sensitivity and specificity of RNA-ISH were both 100%,and those of MDM2 IHC were 92.3%and 83.3%,respectively.Diffuse staining was identified in all MDM2 RNA-ISH positive ALT/WDL/DDLs,but identified in only 8/24(33.3%)of the MDM2 IHC positive cases.Among the 11 ALT/WDL/DDL samples evaluated on tissue microarray,the positive rate of MDM2 RNA-ISH was 100%with diffuse staining in all cases.The positive rate of MDM2 IHC was 9/11 while only 1 of the 9 cases showed diffuse staining.The result of MDM2 RNA-ISH was identical to that of MDM2 FISH and was overall consistent with that of MDM2 IHC(Kappa=0.763,P<0.001).Conclusions In ALT/WDL/DDLs,results of MDM2 RNA-ISH are highly consistent with those of FISH.MDM2 RNA-ISH is more sensitive and more specific and has more diffuse positive signals than the IHC.The findings indicate that MDM2 RNA-ISH is highly valuable for the diagnosis and differential diagnosis of ALT/WDL/DDLs.

关 键 词：软组织肿瘤 脂肪肉瘤 原位杂交 免疫组织化学 

分 类 号：R738.6[医药卫生—肿瘤]