儿童胸膜肺母细胞瘤的临床病理学及分子遗传学特征

Clinical pathological characteristics and molecular genetic features of pleuropulmonary blastoma in children

目的探讨儿童胸膜肺母细胞瘤(PPB)的临床病理学及分子遗传学特征。方法回顾性收集2016年至2023年郑州大学第一附属医院存档的5例PPB患儿的临床资料,应用Sanger测序检测DICER1热点区域体细胞突变,完善随访资料,检索相关文献,统计PPB相关特征。结果5例PPB患儿以咳嗽、发热入院,影像学检查显示肺、胸腔巨大占位;囊实性。病理分型Ⅱ型2例,Ⅲ型3例,其中2例伴横纹肌肉瘤分化。4例检测到DICER1基因突变。2例行手术治疗,3例给予手术联合术后化疗。经短期随访,复发2例,其中1例复发后死亡,1例带瘤生存(合并肺囊肿);其余均存活。1例患儿家属有结节性甲状腺病史。结论PPB起病隐匿,预后差,诊断需要结合病理学检查及DICER1基因检测。

Objective To investigate the pathological characteristics and molecular genetic features of pleuropulmonary blastoma(PPB)in children.Methods The clinical data of 5 children with PPB archived in the First Affiliated Hospital of Zhengzhou University from 2016 to 2023 were collected retrospectively.Sanger sequencing was used to detect somatic mutations in DICER1,and the follow-up data were completed.The related characteristics of PPB were counted by researching relevant literature.Results The 5 children with PPB were admitted to the hospital for cough and fever;the imaging examination revealed a huge mass in the lung and thoracic cavity,cystic and solid.Two of the 5 children with PPB were with typeⅡpathological classification,and 3 cases with typeⅢpathological classification.Two cases were differentiated with rhabdomyosarcoma.4 cases had DICER1 mutations.Two cases were treated by surgery alone,and 3 cases were treated by surgery followed by chemotherapy.During short-term follow-up,2 cases experienced recurrence,including 1 case dead after recurrence and 1 case alive with tumor complicated by lung cysts;and the rest of the 5 patients all survived.One patient’s family member had a history of nodular goiter.Conclusions PPB has an insidious onset and a poor prognosis.Diagnosis requires a combination of pathological examination and DICER1 gene testing.