内膜肉瘤2例临床病理学分析并文献复习  

Intimal sarcoma:A clinicopathological analysis of two cases and review of literature

作　　者：许燕岚 黄玉鑫 章俊 XU Yan-lan;HUANG Yu-xin;ZHANG Jun(Department of Pathology,College of Clinical Medicine,Guizhou Medical University,Guiyang 550004,China;Department of Pathology,the Affiliated Hospital of Guizhou Medical University,Guiyang 550004,China)

机构地区：[1]贵州医科大学病理学教研室,贵阳550004 [2]贵州医科大学附属医院病理科,贵阳550004

出　　处：《诊断病理学杂志》2025年第3期287-290,296,共5页Chinese Journal of Diagnostic Pathology

基　　金：国家自然科学基金资助项目(82060565号)。

摘　　要：目的探讨内膜肉瘤的临床病理学特征、免疫表型和分子遗传学特征。方法收集贵州医科大学附属医院2020年5月至2024年5月期间诊断的2例内膜肉瘤病例,进行回顾性总结,分析临床病理特征。结果2例患者均为女性。临床症状表现为无明显诱因出现胸闷,心悸。例1影像学考虑血栓。例2心脏超声考虑黏液瘤。2例镜下见肿瘤组织均由梭形或上皮样细胞组成,可见出血及坏死,部分区域伴有黏液样变性,可见瘤巨细胞。免疫表型示肿瘤细胞均弥漫表达MDM2,散在肿瘤细胞表达CDK4,2例均不表达CK,EMA,CK7,Bcl-2,CK5/6,p16,CD34,CD31,Caldesmon,Calretinin及WT-1。2例行FISH检测可见MDM2基因扩增。结论内膜肉瘤是发生在体循环、肺循环大动脉壁和心脏内的恶性间叶性肿瘤,MDM2基因扩增为诊断该肿瘤提供重要依据。目前主要治疗方式仍然是手术治疗。Objective To investigate the clinicopathological,immunophenotypic and genetic characteristics of intimal sarcoma(IS).Methods Two cases of IS diagnosed in the Affiliated Hospital of Guizhou Medical University were collected from May 2020 to May 2024.Clinicopathological information of the patients was collected and analyzed.Results Both cases are female with non-inductive chest distress and palpitations.In Case 1,thrombosis formation was predisposed in the ultrasonic result.In Case 2,myxoma was predisposed in imaging result.Under microscope,the neoplasm was composed of spindle and epithelioid heterotypic cells with varied amount of hemorrhage and necrosis.Myxoid change and tumor giant cells were observed.IHC staining showed that MDM2 was diffusely expressed in the nuclei of the neoplastic cells with scattered CDK4 expression.CK,EMA,CK7,Bcl-2,CK5/6,p16,CD34,CD31,Caldesmon,Calretinin and WT-1 positive expression were not observed in both cases.MDM2 gene amplification was identified in both cases using FISH examination.Conclusion Intimal sarcoma is a high-grade malignant mesenchymal tumor with poor prognosis.It commonly involves the large arteries of the systemic and pulmonary circulation,as well as the heart.The abnormal amplification of MDM2 gene is the determinative indication in the IS pathological diagnosis.Surgery is mainly the therapeutic regimen for IS.

关 键 词：内膜肉瘤 MDM2 恶性间叶性肿瘤 免疫组化 荧光原位杂交 

分 类 号：R730.262[医药卫生—肿瘤]