2017 年第 12 期 第 12 卷

胎儿及婴儿原发性心脏横纹肌瘤26例临床病理分析

Clinicopathological analysis of primary cardiac rhabdomyoma in 26 fetuses and infants

作者：朱庆贺晨宇商建峰陈东

英文作者：Zhu Qing He Chenyu Shang Jianfeng Chen Dong

单位：100029首都医科大学附属北京安贞医院病理科北京市心肺血管疾病研究所（朱庆、商建峰、陈东）；450001郑州大学临床医学系（贺晨宇）

英文单位：Department of Pathology Beijing Anzhen Hospital Capital Medical University Beijing Institute of Heart Lung and Blood Vessel Diseases Beijing 100029 China（Zhu Q Shang JF Chen D）; Department of Clinical Medicine Zhengzhou University Zhengzhou 450001 China（He CY）

关键词：先天性心脏病；心脏横纹肌瘤；结节性硬化症；病理学

英文关键词：Congenitalheartdisease;Cardiacrhabdomyoma;Tuberoussclerosis;Pathology

• 摘要：

• 目的    探讨原发性心脏横纹肌瘤的临床病理特征、诊断及鉴别诊断等特点。方法    收集2010—2017年首都医科大学附属北京安贞医院病理科26例胎儿及婴儿心脏横纹肌瘤尸检及手术切除的标本资料，进行肉眼观察、苏木精-伊红及免疫组织化学染色等相关病理检查，并与临床资料相联系。结果    24例尸检标本中7例（29.2%）肿瘤为单一结节，17例（70.8%）为多发结节；11例（45.8%）肿瘤仅发生于左心室，2例（8.3%）仅发生于右心室，11例（45.8%）两侧心室均可见肿瘤；2例（8.3%）可见脑部结节，诊断为结节性硬化症；10例（41.7%）室间隔可见肿瘤。2例手术切除标本分别来自出生5个月和出生1个月婴儿，出生5个月者肿瘤位于肺动脉及右心室流出道。常规苏木精-伊红染色镜检可见肿瘤细胞的细胞质呈嗜酸性或空泡状，可见小至中等细胞核，核仁较明显，并见“蜘蛛样”细胞，未见核分裂象。免疫组织化学染色显示结蛋白（＋），肌红蛋白（＋），波形蛋白（＋），Ki-67（1%），S-100（-），CD31（-），CD34（-），成肌分化蛋白1（-），肌球蛋白（-），平滑肌肌动蛋白（-）。结论    心脏横纹肌瘤多因妊娠期超声检查心脏肿物被发现，好发于胎儿及婴幼儿，常为多发，合并结节性硬化症者少见，免疫组织化学染色及基因检测有助于肿瘤的诊断。

• Objective    To investigate clinicopathological features, diagnosis and differential diagnosis of primary cardiac rhabdomyoma. Methods    Twenty-six cases of cardiac rhabdomyoma of fetal autopsy and infant surgical resection were analyzed through general visual observation, hematoxylin-eosin staining and immunohistochemical staining at Department of Pathology, Beijing Anzhen Hospital, Capital Medical University from 2010 to 2017. Results    In 24 cases of fetal autopsy, 7 cases（29.2%） had single tumor, 17 cases（70.8%） had multiple tumors; 11 cases（45.8%） had rhabdomyoma in left ventricle, 2 cases（8.3%） had rhabdomyoma in right ventricle, 11 cases（45.8%） had tumors in both side; 2 cases（8.3%） with brain nodules were diagnosed of tuberous sclerosis complex; 10 cases（41.7%） had septal tumor. Two samples of surgical resection came from a 5 months old infant and an 1 month old infant; the 5 months old infant had a tumor nodule in pulmonary artery and right ventricular outflow tract. Hematoxylin-eosin staining showed eosinophilic or vacuolar cells, small to medium nucleus with obvious nucleolus; there were spider-like cells but no mitotic figure was observed. Immunohistochemical staining showed desmin（＋）, myoglobin（＋）, vimentin（＋）, Ki-67（1%）, S-100（-）, CD31（-）, CD34（-）, myogenic differentiation 1（-）, myosin（-）, smooth muscle actin（-）. Conclusions    Cardiac rhabdomyoma is common in fetus and infant; it can be diagnosed by echocardiography during gestation period; the complication of tuberous sclerosis complex is rare. Immunohistochemical test and genetic test are useful in diagnosis of cardiac rhabdomyoma.