儿童胸膜肺母细胞瘤6例临床分析及文献复习

目的 对儿童胸膜肺母细胞瘤的临床特点、病理特征及其预后进行分析及相关文献复习.方法 选取2010年1月至2018年2月就诊于浙江大学医学院附属儿童医院的6例胸膜肺母细胞瘤患儿为观察对象,对其临床特征、病理特征、影像学表现、肿瘤标志物等进行总结,并对患儿预后进行随访.结果 全部患儿均首诊于儿童内科,年龄18~58个月,具有不同程度的咳嗽、发热、喘息,其中1例年长儿有胸痛,1例伴有跛行.就诊时病程15~60d.6例患儿中男女比例1:1.胸部CT表现有肺不张、肺实变、胸腔积液、囊腔样改变、气胸、软组织积气,3例侵犯纵隔,1例合并腹腔转移,均未发现头颅转移.肿瘤标志物均在正常范围.预后:2例化疗后缓解,随访2~3年无复发,4例死亡.结论 儿童胸膜肺母细胞瘤为少见的恶性肿瘤疾病,症状不具有典型性,胸部增强CT及病理检测有助于临床诊断,化疗效果及预后差.总结最新研究进展,本病存在家族性的遗传倾向,与DICER1的基因突变有关,临床上对疑似胸膜肺母细胞瘤患儿应积极完善相关基因检测,以协助诊治.

Objective To analyze the clinical features,pathological features and prognosis of pleuropulmonary blastoma in children and review relevant literatures.Methods 6 children with pleural pulmonary blastoma who treated in the Children's Hospital of Zhejiang University School of Medicine from January 2010 to February 2018 were selected as observation subjects.Their clinical features,pathological features,imaging manifestations,tumor markers results were summarized and the prognosis of the children was followed up.Results All the children were first diagnosed in pediatric internal medicine department,aged 18-58 months,with varying degrees of cough,fever and wheezing.One of the older children had chest pain and one had claudication.The course of the disease ranged from 15 to 60 days.The ratio of male to female was 1:1 in 6 cases.Chest CT showed atelectasis,lung consolidation,pleural effusion,cystoid changes,pneumothorax,soft tissue pneumothorax.3 cases invaded the mediastinum and one case combined with abdominal metastasis.No cranial metastasis was found.Tumor markers were within the normal range in all patients.In terms of prognosis,2 patients were in remission after chemotherapy,and no recurrence was observed during 2-3 years of follow-up,and 4 patients died.Conclusion Pleuropulmonary Blastoma in children is a rare malignant tumor disease and the symptoms are not typical.Enhanced CT and pathological examination of the chest are helpful for clinical diagnosis.The effect and prognosis of chemotherapy are poor.Summarizing the latest research progress,this disease has familial genetic tendency,which is related to the gene mutation of DICER 1.In order to assist the diagnosis and treatment,it is necessary to improve the related gene detection in children with suspected Pleuropulmonary Blastoma.