摘要
目的:探讨低度恶性纤维黏液样肉瘤(LGFMS)的临床病理及分子遗传学特征。方法:收集2016年1月至2023年1月郑州大学第一附属医院收治的LGFMS 16例,对其临床资料进行总结分析。结果:16例中,男5例,女11例,年龄5~65岁,术前病程1 d~20 a,肿瘤直径2.0~24.2 cm。免疫组化染色结果显示:16/16例MUC4弥漫阳性,9/10例EMA、10/10例Dog-1局灶弱阳性。荧光原位杂交结果显示:14/16例FUS基因断裂,1/2例EWSR1基因断裂。二代测序结果显示:1例EWSR1::CREB3L1基因重排;15例FUS::CREB3L2基因重排,其中1例伴有ETV6::ERP27基因重排及MYC和CSMD3基因扩增。16例均手术切除,随访7~79个月,2例复发转移并死亡。结论:免疫组化MUC4表达和FUS/EWSR1基因重排对LGFMS诊断有提示意义。
Aim:To investigate the clinicopathological and molecular genetic features of low-grade fibromyxoid sarcoma(LGFMS).Methods:A total of 16 cases of LGFMS from the First Affiliated Hospital of Zhengzhou University between January 2016 and January 2023 were collected,and their clinical data were summarized and analyzed.Results:Among the 16 cases,5 were male and 11 were female,with ages ranging from 5 to 65 years.The preoperative course ranged from 1 day to 20 years,and the tumor diameter ranged from 2.0 to 24.2 cm.Immunohistochemical staining results showed that 16/16 cases were diffusely positive for MUC4,while weakly positive for EMA were detected in 9/10 cases and Dog-1 in 10/10 cases.Fluorescence in situ hybridization results revealed FUS gene breakage in 14/16 cases and EWSR1 gene breakage in 1/2 cases.Next-generation sequencing results showed EWSR1::CREB3L1 rearrangement in 1 case;FUS::CREB3L2 gene rearrangement in 15 cases,with 1 case also exhibiting ETV6::ERP27 gene rearrangement and amplification of MYC and CSMD3 genes.Sixteen cases underwent surgical resection and were followed-up for 7 to 79 months,and 2 cases experiencing recurrence,metastasis,and death.Conclusion:Immunohistochemical staining for MUC4 and FUS/EWSR1 gene rearrangement could be indicative for the diagnosis of LGFMS.
作者
赵雪琰
魏建国
李盼
任华艳
吕新全
赵志华
ZHAO Xueyan;WEI Jianguo;LI Pan;REN Huayan;LYU Xinquan;ZHAO Zhihua(Department of Pathology,the First Affiliated Hospital,Zhengzhou University,Zhengzhou 450052)
出处
《郑州大学学报(医学版)》
北大核心
2025年第3期393-396,共4页
Journal of Zhengzhou University(Medical Sciences)
基金
国家自然科学基金项目(82173127)
河南省高等学校重点科研项目(22A310023)。
