肝脏血管肉瘤的临床病理特征及α地中海贫血伴智力低下综合征X连锁的表达特征  

Clinicopathological features and ATRX application in hepatic angiosarcoma

作　　者：刘周英 杜俊[1] 张劲松[1] 刘龙腾[1] 刘东戈[1] 杨重庆[1] Liu Zhouying;Du Jun;Zhang Jinsong;Liu Longteng;Liu Dongge;Yang Chongqing(Department of Pathology,Beijing Hospital,National Center of Gerontology,Institute of Geriatric Medicine,Chinese Academy of Medical Sciences,Beijing 100730,China)

机构地区：[1]北京医院病理科,国家老年医学中心,中国医学科学院老年医学研究院,北京100730

出　　处：《中华老年医学杂志》2025年第3期330-334,共5页Chinese Journal of Geriatrics

基　　金：国家自然科学基金(82050005)。

摘　　要：目的探讨肝脏血管肉瘤的临床病理特点,并评估α地中海贫血伴智力低下综合征X连锁(Alpha-thalassemia-mental rebardation X-linked,ATRX)免疫组化染色在其诊断中的应用。方法回顾性分析北京医院病理科2014年至2023年诊断的7例肝脏血管肉瘤患者的病理及临床资料,并采用免疫组化方法检测ATRX表达情况。结果患者中6例为体检时偶然发现,1例因腹痛就诊。6例患者为多发结节,仅有1例为单发结节。镜下形态多样,高分化血管肉瘤可见肝板萎缩,肝窦内衬覆肿瘤细胞,低分化血管肉瘤细胞异型性较大,需要与其他肉瘤相鉴别。肿瘤细胞均表达血管内皮标记血小板内皮细胞黏附分子-1(platelet endothelial cell adhesion molecule,CD31)、造血祖细胞抗原(CD34)及Ets相关基因(Ets related-gene,ERG)等,并有4例中-低分化血管肉瘤肿瘤细胞出现ATRX表达缺失。结论肝血管肉瘤表现及影像学检查无特异性,综合分析患者的临床及形态学,并辅以血管标记及ATRX免疫组化染色,有助于正确的病理诊断。ObjectiveTo investigate the clinicopathological characteristics and the application of ATRX(alpha-thalassemia mental retardation X-linked)in hepatic angiosarcoma.MethodsWe retrospectively analyzed the pathological and clinical data of seven patients diagnosed with hepatic angiosarcoma at the Department of Pathology,Beijing Hospital,between 2014 and 2023.ATRX immunohistochemical staining was conducted.ResultsAmong the patients,six were identified incidentally during physical examinations,while only one patient presented with abdominal pain.Six patients had multiple nodules,whereas one had a solitary tumor.The morphological features were diverse;high-grade angiosarcoma exhibited liver plate atrophy and hepatic sinusoids lined with atypical cells,while low-differentiated angiosarcoma displayed a higher degree of atypia and should be differentiated from other sarcomas.Tumor cells expressed vascular endothelial markers,including CD31(platelet endothelial cell adhesion molecule-1),CD34(hematopoietic progenitor cell antigen CD34),and ERG(Ets-related gene).Additionally,loss of ATRX expression was observed in four patients.ConclusionsHepatic angiosarcoma is characterized by a lack of specific clinical manifestations and imaging findings.A comprehensive analysis of clinical symptoms,morphological features,and immunohistochemical staining—particularly for vascular markers and ATRX—is essential for an accurate pathological diagnosis.

关 键 词：血管肉瘤 肝脏 α地中海贫血伴智力低下综合征X连锁 

分 类 号：R73[医药卫生—肿瘤]