Reassessment of EWSR1 gene rearrangement-negative undifferentiated round cell sarcomas in bone and soft tissues by fluorescence in situ hybridization
10.3760/cma.j.cn112151-20201021-00799
- VernacularTitle:荧光原位杂交检测EWSR1基因重排阴性的骨与软组织未分化小圆细胞肉瘤病例再分析
- Author:
Lan LI
1
;
Ming ZHANG
;
Xiaoqi SUN
;
Mei LIU
;
Hairong XU
;
Tingting ZHANG
;
Xiaoyuan HUANG
;
Yi DING
Author Information
1. 北京积水潭医院（北京大学第四临床医学院）病理科 100035
- Keywords:
Sarcoma;
Bone neoplasms;
Soft tissue neoplasms;
In situ hybridization, fluorescence;
Gene rearrangement
- From:
Chinese Journal of Pathology
2021;50(7):745-750
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To unravel the CIC rearrangement sarcomas and BCOR-CCNB3 sarcomas from EWSR1 rearrangement-negative undifferentiated round cell sarcomas in the bone and soft tissues.Methods:Twenty-eight cases of EWSR1 rearrangement-negative undifferentiated round cell sarcomas of bone and soft tissues, tested for CIC rearrangement and BCOR rearrangement by fluorescence in situ hybridization and related immunostaining were analyzed, and some of the BCOR rearrangement cases were verified by reverse transcription-polymerase chain reaction.Results:Five of 28 (17.9%) tested cases were positive for CIC rearrangement and six (21.4%) for BCOR rearrangement. Histopathologically, CIC rearrangement sarcomas comprised nodular aggregates of round to polygonal cells, containing hyperchromatic nuclei, prominent nucleoli and moderate cytoplasm, with focal variable necrosis and myxoid stroma. BCOR-CCNB3 sarcomas mostly comprised diffusely arranged, round to oval to short spindly cells with angulated nuclei, vesicular chromatin, inconspicuous nucleoli and interspersed vessels. Immunohistochemically, five of six BCOR-CCNB3 sarcomas showed CCNB3 immunostaining, which could be helpful for diagnosis . Two patients with CIC rearrangement sarcoma died of the diseases in seven months and twenty-two months. One patient with BCOR-CCNB3 sarcoma died of the diseases in forty-six months. Conclusions:Overall, 39.3% of the EWSR1 rearrangement-negative undifferentiated round cell sarcomas are CIC rearrangement sarcomas and BCOR-CCNB3 sarcomas. Molecular testing is helpful for diagnosis.
