胎儿心横纹肌瘤合并结节性硬化症尸检1例  

Fetal cardiac rhabdomyomas associated with tuberous sclerosis complex: report of an autopsied case

作　　者：石峰[1] 杜雪梅[1] 周全[1] 高颖[1] 郭洋[1] 沈兵[1] 昌红[1] 

机构地区：[1]首都医科大学附属北京世纪坛医院病理科,北京100038

出　　处：《诊断病理学杂志》2015年第9期545-547,共3页Chinese Journal of Diagnostic Pathology

摘　　要：目的探讨胎儿心横纹肌瘤合并结节性硬化症的临床及病理特征、病理诊断、治疗与预后。方法对1例胎儿进行尸检。标本采用常规石蜡包埋、切片、HE染色及免疫组化染色。结果该例为心室多发结节样肿瘤,切面灰粉色、质细腻,镜下可见到"蜘蛛样"细胞,myoglobin和desmin(+);脑实质内可见体积较大的星形细胞弥漫聚集,胞质嗜伊红色,核偏位,GFAF(+);脾内可见组织细胞样细胞多灶状瘤样生长,CD68(+),诊断为胎儿心横纹肌瘤合并结节性硬化症。结论心横纹肌瘤为良性错构性肿瘤,早发现及准确诊断对临床治疗非常有意义,合并结节性硬化症时预后较差。To explore the clinicopathologic features, diagnosis, and outcome of the fetal cardiac rhabdomyomas （FCR） associated with tuberous sclerosis complex （TSC）. Methods An autopsy was performed in a fetal girl. Routine paraffin - embedded tissue section was stained with HE and immunohistochemistry. Results Ventrieular multiple nodular tumor was found, the cross section of the tumor was gray-pink and fine. Histologically, the typical ＂spider cells＂ were noted. Immunohistochemistry showed myoglobin and desmin positive. Big astrocytoma was seen in brain, and the tumor cells had eosinophilic cytoplasm, eccentric nucleus; immunohistochemistry showed GFAP positive. There were multiple histoeyte-like ceils in the spleen; immunohistochemistry showed that the tumor cells were positive for CD68. Fetal heart rhabdomyoma associated with tuberous sclerosis complex was diagnozed in this case. Conclusion The FCR is a benign harmatoma, and timely diagnosis is important to clinical treatment. The patient has poor prognosis when it is associated with TSC.

关 键 词：心 横纹肌瘤 结节性硬化症 室管膜下巨细胞型星形细胞瘤 

分 类 号：R732.1[医药卫生—肿瘤]