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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。
Objective To investigate the clinical and pathological features, pathological diagnosis, treatment and prognosis of fetal rhabdomyoma complicated with tuberous sclerosis. Methods One fetus was autopsy. The specimens were embedded in normal paraffin, sliced, HE stained and immunohistochemically stained. Results The cases were multiple nodular tumors of the ventricle. The section was gray-gray in color and fine in texture. The spider-like cells, myoglobin and desmin (+) were seen in the microscope. The larger astrocytes were found in the brain parenchyma , Cytoplasmic eosinophilia, nuclear deviation, GFAF (+); splenic tissue-like cells seen multiple tumor-like tumor growth, CD68 (+), diagnosed as fetal heart rhabdomyoma with tuberous sclerosis. Conclusions The cardiac rhabdomyoma is a benign and malignant tumor. Early detection and accurate diagnosis are of great significance for clinical treatment. When combined with tuberous sclerosis, the prognosis is poor.