Clinicopathological study of BCOR rearrangement in high grade endometrial stromal sarcoma
10.3760/cma.j.issn.0529-5807.2019.08.004
- VernacularTitle: 伴有BCOR基因易位的高级别子宫内膜间质肉瘤临床病理分析
- Author:
Yufan CHENG
1
,
2
;
Qianming BAI
;
Rui BI
;
Bin CHANG
;
Dan HUANG
;
Lin YU
;
Xiaoyan ZHOU
;
Wentao YANG
;
Xiaoyu TU
Author Information
1. Department of Pathology, Fudan University Shanghai Cancer Center
2. Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China
- Publication Type:Journal Article
- Keywords:
Sarcoma, endometrial stromal;
In situ hybridization, fluorescence;
Diagnosis, differential
- From:
Chinese Journal of Pathology
2019;48(8):604-609
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate clinicopathological, cytogenetic features and differential diagnoses of high grade endometrial stromal sarcoma (HGESS) with BCOR gene rearrangement.
Methods:Five cases of HGESS with BCOR rearrangement were collected from consultant files (2016-2018) at Fudan University Shanghai Cancer Center. Interphase FISH was performed using a dual color break-apart probe. The clinical data, histologic features and immunohistochemical findings were reviewed.
Results:All 5 cases occurred in adult women with a median age of 48 (range, 45-55) years. Abdominal pain and abnormal vaginal bleeding were the most common symptoms. Microscopically, the tumors showed mainly tongue-like and/or intersecting myometrial invasion. Stromal myxoid matrix and/or collagen plaques were prominent in all the cases. Most tumors consisted of uniform, haphazard fascicles of short spindle cells with mild to moderate nuclear atypia. Mitotic figures and necrosis were easily identified. Significant nuclear pleomorphism was not seen. Most tumors were rich in thick-walled small vessels. Prominent perivascular tumor cell whorling seen in conventional low-grade endometrial stromal sarcoma was not seen. All tumors expressed CD10 with only focal or absent desmin, SMA and/or h-caldesmon staining. ER or PR expression was seen in 4 tumors and 1 tumor showed both marker expression. Diffuse cyclin D1 was present in 2 tumors. BCOR immunoreactivity was present with strong staining in 3 cases and moderate staining in 1 case respectively. Ki-67 index ranged from 10% to 30%. Fluorescence in situ hybridization confirmed chromosomal aberration of BCOR gene in all tumors, that were previously diagnosed as myxoid leiomyosarcoma (2 cases), spindle cell uterine sarcoma (2 cases) and low-grade endometrial stromal sarcoma (1 case). Limited follow-up information revealed that 3/5 patients developed tumor recurrence, metastasis or death within one year.
Conclusion:BCOR rearranged HGESS has distinct morphological features and aggressive clinical behavior. In the presence of significant overlapping morphologic features between BCOR rearranged HGESS and other myxoid uterine mesenchymal tumors, especially myxoid leiomyosarcoma, molecular analysis is essential for accurate diagnoses.
