|本期目录/Table of Contents|

[1]张缨,刘仕琦,朱宇凝,等.ZC3H7B-BCOR融合的高级别子宫内膜间质肉瘤的临床病理学分析[J].医学研究与战创伤救治(原医学研究生学报),2023,25(2):147-150.[doi:10.3969/j.issn.1672-271X.2023.02.007]
　ZHANG Ying,LIU Shiqi,ZHU Yuning,et al.Clinicopathological analysis of high-grade endometrial stromal sarcoma with ZC3H7B-BCOR fusion[J].JOURNAL OF MEDICALRESEARCH —COMBAT TRAUMA CARE,2023,25(2):147-150.[doi:10.3969/j.issn.1672-271X.2023.02.007]
点击复制

ZC3H7B-BCOR融合的高级别子宫内膜间质肉瘤的临床病理学分析()
分享到62.8K

《医学研究与战创伤救治》（原医学研究生学报）[ISSN:1672-271X/CN:32-1713/R]

卷:
第25卷
期数:
2023年2期
页码:
147-150
栏目:
临床研究
出版日期:
2023-05-31

文章信息/Info

Title:
Clinicopathological analysis of high-grade endometrial stromal sarcoma with ZC3H7B-BCOR fusion
作者:
张缨; 刘仕琦; 朱宇凝; 曹晓卉; 王晓露
作者单位：210002南京，东部战区总医院病理科（张缨、刘仕琦、朱宇凝、曹晓卉）；210029南京，江苏省中医院肿瘤科（王晓露）
Author(s):
ZHANG Ying1;  LIU Shiqi1;  ZHU Yuning1;  CAO Xiaohui1; WANG Xiaolu2
（1.Department of Pathology, General Hospital of Eastern Theater Command, PLA, Nanjing 210002, Jiangsu, China; 2. Department of Oncology, the Affiliated Hospital, Nanjing University of Chinese Medicine, Nanjing 210029, Jiangsu, China)
关键词:
子宫内膜间质肉瘤; ZC3H7B-BCOR; 分子诊断技术
Keywords:
endometrial stromal sarcoma; ZC3H7B-BCOR; molecular diagnostic technology
分类号:
R737.33
DOI:
10.3969/j.issn.1672-271X.2023.02.007
文献标志码:
A
摘要:
目的探讨ZC3H7B-BCOR融合的高级别子宫内膜间质肉瘤（HGESS）的临床病理学特征、免疫表型、分子遗传学改变及鉴别诊断。方法 回顾性研究1例ZC3H7B-BCOR融合的HGESS的临床病理资料及分子遗传学改变，并复习相关文献。结果患者女性，38岁，腹部巨大包块。镜下观察：肿瘤细胞在肌壁间呈舌状浸润生长，形态较为一致，部分呈空泡状，核分裂相活跃。肿瘤中可见黏液样基质、肺水肿样改变和斑块样胶原。免疫组化：细胞周期蛋白D1（CyclinD1）（+），BCOR（+），CD10（-），α-inhibin （-），雌激素受体（ER）（-），孕激素受体（PR）（-）。患者RNA样本检测到ZC3H7B-BCOR融合。结论ZC3H7B-BCOR融合的HGESS是一种临床罕见的高侵袭性肿瘤，由于瘤细胞缺乏特异性病理学特征，常易误诊为其他小圆细胞恶性肿瘤，明确诊断该病有重要的临床病理学意义。对于诊断和鉴别困难的病例，分子遗传性特征是有力的证实和补充。
Abstract:
ObjectiveTo investigate clinicopathological, cytogenetic features and differential diagnosis of high-grade endometrial stromal sarcoma (HGESS) with ZC3H7B-BCOR fusion.MethodsOne case of HGESS with ZC3H7B-BCOR fusion was studied retrospectively. The clinical data, histologic and immunohistochemical features, molecular genetic changes were reviewed with related literature.ResultsThe patient was a 38-year-old female with a giant mass in abdomen. Tumor cells showed tongue-like infiltrative growth in muscular wall. The size and shape of tumor cells were uniform, some areas of the cytoplasm appeared vacuolar with active mitosis. Mucoid stromal, pulmonary emphysema change, collagen plaques were found in the vascular. Immunohistochemical assays showed that CyclinD1 (+)，BCOR (+), CD10 (-)，α-inhibin (-)，ER (-), PR (-). ZC3H7B-BCOR was detected in the patient’s RNA samples.ConclusionHGESS with ZC3H7B-BCOR is rare and highly invasive. It is easily misdiagnosed as other malignant tumor with small round cell. Molecular analysis is especially for accurate diagnoses.

参考文献/References:

[1]Capozzi VA,Monfardini L,Ceni V, et al.Endometrial stromal sarcoma: A review of rare mesenchymal uterine neoplasm[J].J Obstet Gynaecol Res,2020,46(11):2221-2236.
[2]Chiang S,Lee CH,Stewart CJR, et al.BCOR is a robust diagnostic immunohistochemical marker of genetically diverse high-grade endometrial stromal sarcoma, including tumors exhibiting variant morphology[J].Mod Pathol,2017,30(9):1251-1261.
[3]Zou Y,Turashvili G,Soslow RA, et al.High-grade transformation of low-grade endometrial stromal sarcomas lacking YWHAE and BCOR genetic abnormalities[J].Mod Pathol,2020,33(9):1861-1870.
[4]Kim Y,Kim D,Sung WJ, et al.High-Grade Endometrial Stromal Sarcoma: Molecular Alterations and Potential Immunotherapeutic Strategies[J].Front Immunol,2022,13:837004.
[5]Lin DI,Huang RSP,Mata DA, et al.Clinicopathological and genomic characterization of BCORL1-driven high-grade endometrial stromal sarcomas[J].Mod Pathol,2021,34(12):2200-2210.
[6]Mayr D,Horn LC,Hiller GGR, et al.[Endometrial and other rare uterine sarcomas : Diagnostic aspects in the context of the 2020 WHO classification][J].Pathologe,2022,43(3):183-195.
[7]Seagle BL,Shilpi A,Buchanan S, et al.Low-grade and high-grade endometrial stromal sarcoma: A National Cancer Database study[J].Gynecol Oncol,2017,146(2):254-262.
[8]Akaev I,Yeoh CC,Rahimi S.Update on Endometrial Stromal Tumours of the Uterus[J].Diagnostics (Basel)，2021，11(3):429.doi: 10.3390/diagnostics11030429.
[9]Lewis N,Soslow RA,Delair DF, et al.ZC3H7B-BCOR high-grade endometrial stromal sarcomas: a report of 17 cases of a newly defined entity[J].Mod Pathol,2018,31(4):674-684.
[10]Alkanat NE,Uner A,Usubutun A.High-grade Endometrial Stromal Sarcoma: Morphologic and Clinical Features, the Role of Immunohistochemistry and Fluorescence in Situ Hybridization in Diagnosis[J].Int J Surg Pathol,2022.doi: 10.1177/10668969221098087.
[11]Mansor S,Kuick CH,Lim SL, et al.ZC3H7B-BCOR-Rearranged Endometrial Stromal Sarcomas: A Distinct Subset Merits its Own Classification?[J]Int J Gynecol Pathol,2019,38(5):420-425.
[12]Lu B,Chen J,Shao Y, et al.Two cases of ZC3H7B-BCOR high grade endometrial stromal sarcoma with an extension on its morphological features[J].Pathology,2020,52(6):708-712.
[13]Zhang YY,Li Y,Qin M, et al.High-grade endometrial stromal sarcoma: a retrospective study of factors influencing prognosis[J].Cancer Manag Res,2019,11:831-837.
[14]许国定，蒋洪棉，朱茂光，等.BMI1基因在胃肠道间质瘤中的表达及相关性[J].医学研究生学报，2018，31(6)：631-635.
[15]唐家优，彭艳.NK细胞相关免疫检查位点的研究进展[J].东南国防医药，2020，22(2)：183-187.

相似文献/References:

备注/Memo

备注/Memo:
-
更新日期/Last Update: 2023-07-24