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过刊目录

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.

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