Endometrial stromal sarcoma: morphologic features and detection of JAZF1-SUZ12 and YWHAE FAM22 fusion genes
10.3760/cma.j.issn.0529-5807.2016.05.005
- VernacularTitle:子宫内膜间质肉瘤的病理形态学观察及JAZF1-SUZ12和YWHAE-FAM22融合基因检测
- Author:
Bin CHANG
1
;
Lixia LU
;
Xiaoyu TU
;
Yufan CHENG
;
Rui BI
;
Wentao YANG
Author Information
1. 200032,复旦大学附属肿瘤医院病理科/复旦大学上海医学院肿瘤学系
- Keywords:
Sarcoma,endometrial stromal;
Gene fusion;
Diagnosis,differential;
Molecular diagnostic techniques
- From:
Chinese Journal of Pathology
2016;45(5):308-313
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the morphologic features,immunophenotype and significance of expression of JAZF1-SUZ12 and YWHAE-FAM22 fusion genes in endometrial stromal sarcoma (ESS).Methods Fifty-three cases of ESS were retrieved and the pathologic features were reviewed.Immunohistochemical study for estrogen receptor,progesterone receptor,CD10,cyclin D1,smooth muscle actin,desmin and H-caldesmon were carried out using tissue microarray technology.Reverse transcriptionpolymerase chain reaction (RT-PCR) was applied for detection of expression of JAZF1-SUZ12 and YWHAEFAM22 fusion genes in 47 cases of ESS and 12 cases of other spindle cell neoplasia in uterus (including 2 cases of undifferentiated sarcoma,3 cases of leiomyosarcoma,3 cases of leiomyoma,4 cases of adenosarcoma and 2 cases of uterine tumor resembling ovarian sex cord tumor).Results The 53 cases of ESS studied included 43 cases of low-grade ESS and 10 cases of high-grade ESS.As for low-grade ESS,in addition to the classic morphologic features,smooth muscle differentiation was present in 7 cases (16.3％),sex cord-like differentiation in 2 cases (4.7％),rhabdoid differentiation in 1 case (2.3％),clear cellchanges in 1 case (2.3％) and schwannoma-like palisading pattern in 1 case (2.3％).As for high-grade ESS,sex cord-like differentiation (1 case),mucinous microcystic changes (1 case) and focal clear cell changes (1 case) were also observed.The expression rate of estrogen receptor,progesterone receptor,CD10,cyclin D1,smooth muscle actin,desmin and H-caldesmon was 86.0％,81.4％,74.4％,2.3％,23.3％,23.3％ and 4.7％ in low-grade ESS,respectively,and was 1/10,6/10,6/10,7/10,1/10,1/10 and 0 in high-grade ESS,respectively.RNA extraction was successful in 47 cases of ESS,including 39 cases of low-grade ESS and 8 cases of high-grade ESS.The positive rate of JAZF1-SUZ12 fusion gene was 30.8％ (12/39) in low-grade ESS.The positive rate of YWHAE-FAM22 fusion gene was 12.5％ (1/8) in high-grade ESS.The 14 control cases were all negative for JAZF1-SUZ12 and YWHAE-FAM22 fusion genes.Conclusions As uncommon pathologic pattern may occur in both low-grade ESS and high-grade ESS,detection of JAZF1-SUZI and YWHAE-FAM22 fusion genes by RT-PCR would be helpful in diagnosis and differential diagnosis of ESS,especially for those tumors which lack typical morphologic features.
