Bai Q M, Chang B, Tu X Y, Bi R, Cheng Y F, Huang D, Zhu X L, Wu L J, Zhang X, Zhou X Y, Yang W T
Department of Pathology, Fudan University Shanghai Cancer Center, Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China.
Zhonghua Bing Li Xue Za Zhi. 2017 Nov 8;46(11):769-774. doi: 10.3760/cma.j.issn.0529-5807.2017.11.007.
To investigate the role of JAZF1 gene rearrangement in the diagnosis and differential diagnosis of endometrial stromal sarcomas by fluorescence in situ hybridization (FISH). JAZF1 gene rearrangement was analyzed by FISH in 129 cases of ESS diagnosed from January 2008 to December 2016 including 105 cases of low-grade endometrial stromal sarcoma (LG-ESS), 21 cases of high-grade endometrial stromal sarcoma (HG-ESS) and 3 cases of undifferentiated uterine sarcoma (UUS). Sixteen cases of the related tumours in uterus were also collected as control group. The results were compared with our previous studies of JAZF1/JJAZ1 fusion gene in ESS by RT-PCR. Detection of JAZF1 gene rearrangement by FISH was successfully analyzed in 144 cases. JAZF1 gene alteration was detected in 63 cases, all of which were LG-ESS, with an overall positivity of 60.6% (63/104), while no JAZF1 gene rearrangement was found in all other cases. JAZF1 gene rearrangement was present in LG-ESS with classic histology (69.3%, 52/75), smooth muscle differentiation (2/10), sex cord-like differentiation (4/5), fibromyxoid change (1/5), clear cell change (0/1), skeletal muscle differentiation (0/1), and schwannoma-like palisading pattern (0/1). The different components in all the cases of LG-ESS with variant histology had the clonal origin, with or without JAZF1 gene alteration. Compared to the results of JAZF1/JJAZ1 fusion gene by RT-PCR, the positive rate of JAZF1 gene rearrangement in LG-ESS by FISH (61.9%, 26/42) was significantly higher than that of RT-PCR (30.0%, 12/40; <0.01). JAZF1 gene rearrangement is present only in LG-ESS, but not in HG-ESS, UUS or other related tumours in uterus. The frequency of JAZF1 gene rearrangement varies between classic LG-ESS and different morphologic variants. It is frequently, but not consistently, present in classic LG-ESS and less often positive in variant cases. The results of JAZF1 gene alterations in LG-ESS with different morphologic variants support the contention that the endometrial stromal and their variant morphologic components have the same clonal origin. Detection of JAZF1 gene rearrangement by FISH is very useful for the diagnosis and differential diagnosis of ESS.
通过荧光原位杂交（FISH）技术研究JAZF1基因重排在子宫内膜间质肉瘤诊断及鉴别诊断中的作用。应用FISH技术分析2008年1月至2016年12月诊断的129例子宫内膜间质肉瘤，其中低级别子宫内膜间质肉瘤（LG - ESS）105例、高级别子宫内膜间质肉瘤（HG - ESS）21例、未分化子宫肉瘤（UUS）3例。另收集16例子宫相关肿瘤作为对照组。将结果与我们之前通过逆转录聚合酶链反应（RT - PCR）对子宫内膜间质肉瘤中JAZF1/JJAZ1融合基因的研究进行比较。144例成功进行了FISH技术检测JAZF1基因重排分析。63例检测到JAZF1基因改变，均为LG - ESS，总体阳性率为60.6%（63/104），而其他所有病例均未发现JAZF1基因重排。JAZF1基因重排在具有经典组织学表现的LG - ESS中出现（69.3%，52/75），在平滑肌分化（2/10）、性索样分化（4/5）、纤维黏液样改变（1/5）、透明细胞改变（0/1）、骨骼肌分化（0/1）及神经鞘瘤样栅栏状结构（0/1）的病例中也有出现。所有具有变异组织学表现的LG - ESS病例中的不同成分均具有克隆起源，伴或不伴有JAZF1基因改变。与RT - PCR检测JAZF1/JJAZ1融合基因的结果相比，FISH检测LG - ESS中JAZF1基因重排的阳性率（61.9%，26/42）显著高于RT - PCR（30.0%，12/40；P<0.01）。JAZF1基因重排仅存在于LG - ESS中，而不存在于HG - ESS、UUS或子宫其他相关肿瘤中。JAZF1基因重排在经典LG - ESS与不同形态学变异型之间的频率有所不同。其在经典LG - ESS中经常出现，但并非始终存在，在变异型病例中阳性率较低。不同形态学变异型LG - ESS中JAZF1基因改变的结果支持子宫内膜间质及其变异形态学成分具有相同克隆起源的观点。通过FISH检测JAZF1基因重排对子宫内膜间质肉瘤的诊断及鉴别诊断非常有用。
