[1]吴碧琛,李理,孟燕妮,等.以呼吸道症状为首发表现的儿童胸膜肺母细胞瘤8例诊治分析[J].临床小儿外科杂志,2026,(06):572-577.[doi:10.3760/cma.j.cn101785-20260312-00111]
　Wu Bichen,Li Li,Meng Yanni,et al.Diagnosis and treatment of 8 children with pleuropulmonary blastoma presenting with respiratory symptoms as an initial manifestation[J].Journal of Clinical Pediatric Surgery,2026,(06):572-577.[doi:10.3760/cma.j.cn101785-20260312-00111]
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以呼吸道症状为首发表现的儿童胸膜肺母细胞瘤8例诊治分析

《临床小儿外科杂志》[ISSN:1671-6353/CN:43-1380/R] 卷: 期数: 2026年06 页码: 572-577 栏目: 论著 出版日期: 2026-06-26
Title:
Diagnosis and treatment of 8 children with pleuropulmonary blastoma presenting with respiratory symptoms as an initial manifestation
作者:
吴碧琛1;  李理2;  孟燕妮1;  阳广贤3
1. 中南大学湘雅医学院附属儿童医院 湖南省儿童医院呼吸内科, 长沙 410007;
2. 中南大学湘雅医学院附属儿童医院 湖南省儿童医院放射科, 长沙 410007;
3. 中南大学湘雅医学院附属儿童医院 湖南省儿童医院心脏中心, 长沙 410007
Author(s):
Wu Bichen1;  Li Li2;  Meng Yanni1;  Yang Guangxian3
1. Department of Pediatric Respiratory Medicine, Affiliated Children’s Hospital, Xiangya School of Medicine, Central South University (Hunan Children’s Hospital), Changsha 410007, China;
2. Department of Radiology, Affiliated Children’s Hospital, Xiangya School of Medicine, Central South University (Hunan Children’s Hospital), Changsha 410007, China;
3. Cardiac Center, Affiliated Children’s Hospital, Xiangya School of Medicine, Central South University (Hunan Children’s Hospital), Changsha 410007, China
关键词:
胸膜肺母细胞瘤; 诊断; 外科手术; 治疗; 治疗结果
Keywords:
Pleuropulmonary Blastoma; Diagnosis; Surgical Procedures;  Operative; Therapy; Treatment Outcomes
DOI:
10.3760/cma.j.cn101785-20260312-00111
摘要:
目的 总结儿童胸膜肺母细胞瘤(pleuropulmonary blastoma,PPB)的临床特征及诊治经验。方法 本研究为回顾性病例系列分析,收集2018年9月至2025年12月湖南省儿童医院收治的8例以呼吸道症状为首发表现、经病理检查确诊为PPB患儿的临床资料,分析其临床表现、影像学特征、病理分型、治疗方式及预后。结果 8例中,男4例、女4例,中位年龄3岁2个月(范围:1岁5个月至4岁11个月)。临床表现:咳嗽6例(75%)、发热5例(62.5%)、气促4例(50%)、胸痛1例(12.5%)。胸部增强CT均表现为胸腔内巨大囊实性占位(100%),右侧5例、左侧3例;合并肺不张7例(87.5%),胸腔积液5例(62.5%)。手术方式:肺叶切除术5例(62.5%),肿瘤穿刺或探查活检术3例(37.5%)。8例均经手术或穿刺获取病理组织标本,结合免疫组化确诊。中位随访时间33个月(范围:0.5~36个月),随访期间死亡4例,其中3例家属拒绝根治性手术及后续治疗,1例拒绝术后辅助化疗;4例无瘤存活,其中2例术后接受规范化疗,2例Ⅰ型病例术后未行化疗。结论 儿童PPB早期临床表现缺乏特异性,易误诊;对疑似病例应及时行影像学、病理学及基因检查;治疗应以手术完整切除为基础,推荐多学科综合治疗模式。
Abstract:
Objective To summarize the clinical characteristics,diagnostic approaches and therapeutic experiences of pediatric pleuropulmonary blastoma (PPB) and boost the understanding and early diagnostic capability of this disease. Methods A retrospective analysis was conducted for the relevant clinical data from 8 children with pathologically confirmed PPB presenting with respiratory symptoms as an initial manifestation from September 2018 to December 2025.Clinical presentations,imaging findings,pathological subtypes,treatment protocols and outcomes were examined. Results There were 4 boys and 4 girls with a median age of 38(17-59) year.Initial symptoms included cough (n=6,75.0%),fever (n=5,62.5%),tachypnea (n=4,50.0%) and chest pain (n=1,12.5%).Contrast enhanced chest CT revealed a huge cystic solid mass (n=8,100%).The lesions were left-sided (n=3) and right sided (n=5).There were atelectasis (n=7,87.5%) and pleural effusion (n=5,62.5%).Surgical procedures included lobectomy (n=5,62.5%) and tumor puncture or exploratory biopsy (n=3,37.5%).A definite diagnosis was made by surgical or biopsy specimens plus immunohistochemistry.All of them were followed up with a median period of 33 (0.5-36) month.During follow ups,there were 4 deaths.Three cases were because the families refused radical surgery and subsequent treatment while another family turned town postoperative adjuvant chemotherapy.The other 4 children survived disease free,of whom 2 received standardized postoperative chemotherapy and 2 (type I) did not. Conclusion The early clinical manifestations of pediatric PPB are non-specific and prone to misdiagnosis.Timely imaging combined with pathological,and genetic examination should be performed for suspected cases.Treatment should adopt a multidisciplinary model based on complete surgical resection,while emphasizing comprehensive patient management and family support to improve treatment compliance and overall prognosis.

参考文献/References:

[1] Leung SS,Donuru A,Kandula V,et al.Multimodality imaging of pleuropulmonary blastoma:pearls,pitfalls,and differential diagnosis[J].Semin Ultrasound CT MR,2022,43(1):61-72.DOI:10.1053/j.sult.2021.05.007.
[2] Madaan PK,Sidhu HS,Girdhar S,et al.Pleuropulmonary blastoma:a report of three cases and review of literature[J].Radiol Case Rep,2021,16(10):2862-2868.DOI:10.1016/j.radcr.2021.06.046.
[3] Zhang N,Zeng Q,Ma XL,et al.Diagnosis and treatment of pleuropulmonary blastoma in children:a single-center report of 41 cases[J].J Pediatr Surg,2020,55(7):1351-1355.DOI:10.1016/j.jpedsurg.2019.06.009.
[4] 中华人民共和国国家卫生健康委员会.儿童胸膜肺母细胞瘤诊疗规范(2021年版)[EB/OL].(2021-05-13).https://www.nhc.gov.cn/wjw/c100175/202105/93e3f258d1e74f2e80e0335c654976e6/files/1645425789539_57000.pdf. National Health Commission of the People’s Republic of China.Guidelines for diagnosis and treatment of pediatric pleural pulmonary mother cell tumor (2021 edition)[EB/OL].(2021-05-13).https://www.nhc.gov.cn/wjw/c100175/202105/93e3f258d1e74f2e80e0335c654976e6/files/1645425789539_57000.pdf.
[5] Gbande P,Abukeshek T,Bensari F,et al.Pleuropulmonary blastoma,a rare entity in childhood[J].BJR Case Rep,2021,7(4):20200206.DOI:10.1259/bjrcr.20200206.
[6] Dehner LP,Schultz KAP,Hill DA.Congenital pulmonary airway malformations with a reconsideration and current perspective on the stocker classification[J].Pediatr Dev Pathol,2023,26(3):241-249.DOI:10.1177/10935266221146823.
[7] Fita AM,Llinares-Riestra E,Doménech-Abellán E,et al.Type III pleuropulmonary blastoma in a dicer1 germline mutation carrier:the management of residual lung cystic lesions[J].Pediatr Blood Cancer,2017,64(8):e26438.DOI:10.1002/pbc.26438.
[8] Zhuo X,Dong LY,Xu CY,et al.Pleuropulmonary blastoma:manifestations and treatment challenges[J].Asian J Surg,2024,47(9):4006-4008.DOI:10.1016/j.asjsur.2024.04.204.
[9] Kunisaki SM,Lal DR,Saito JM,et al.Pleuropulmonary blastoma in pediatric lung lesions[J].Pediatrics,2021,147(4):e2020028357.DOI:10.1542/peds.2020-028357.
[10] 张旭,张娜,曾骐,等.儿童肺部肿瘤单中心170例回顾性分析[J].临床小儿外科杂志,2022,21(3):215-219.DOI:10.3760/cma.j.cn101785-202201061-003. Zhang X,Zhang N,Zeng Q,et al.Retrospective analysis of 170 cases of pediatric lung tumor in a single center[J].J Clin Ped Sur,2022,21(3):215-219.DOI:10.3760/cma.j.cn101785-202201061-003.
[11] Petrovic DJ,Pavicevic P.Pleuropulmonary blastoma (PPB) with central nervous system metastasis:case report,imaging findings,and review of literature[J].Acta Chir Belg,2024,124(6):499-503.DOI:10.1080/00015458.2024.2365503.
[12] Grigoletto V,Tagarelli A,Sparber-Sauer M,et al.Inequalities in diagnosis and registration of pediatric very rare tumors:a European study on pleuropulmonary blastoma[J].Eur J Pediatr,2020,179(5):749-756.DOI:10.1007/s00431-019-03566-7.
[13] Engwall-Gill AJ,Chan SS,Boyd KP,et al.Accuracy of chest computed tomography in distinguishing cystic pleuropulmonary blastoma from benign congenital lung malformations in children[J].JAMA Netw Open,2022,5(6):e2219814.DOI:10.1001/jamanetworkopen.2022.19814.
[14] Murphy AJ.Can computed tomography scans reliably distinguish pleuropulmonary blastoma from congenital lung malformations?[J].JAMA Netw Open,2022,5(6):e2219826.DOI:10.1001/jamanetworkopen.2022.19826.
[15] Hiemcke-Jiwa LS,Van Belle S,Eijkelenboom A,et al.Pleuropulmonary blastoma (PPB) and other DICER1-associated high-grade malignancies are morphologically,genetically and epigenetically related-a comparative study of 4 PPBs and 6 sarcomas[J].Ann Diagn Pathol,2022,60:152002.DOI:10.1016/j.anndiagpath.2022.152002.
[16] Hemead H,Aly RG,Kotb M,et al.Pediatric pleuropulmonary blastoma:analysis of four cases[J].BMC Cancer,2024,24(1):1268.DOI:10.1186/s12885-024-12977-1.
[17] 苏明珠,苏雁.儿童胸膜肺母细胞瘤遗传学研究进展[J].中华实用儿科临床杂志,2025,40(5):386-388.DOI:10.3760/cma.j.cn101070-20240616-00373. Su MZ,Su Y.Advances in genetic research on pleuropulmonary blastoma in children[J].Chin J Appl Clin Pediatr,2025,40(5):386-388.DOI:10.3760/cma.j.cn101070-20240616-00373.
[18] Bisogno G,Sarnacki S,Stachowicz-Stencel T,et al.Pleuropulmonary blastoma in children and adolescents:the EXPeRT/PARTNER diagnostic and therapeutic recommendations[J].Pediatr Blood Cancer,2021,68(S4):e29045.DOI:10.1002/pbc.29045.
[19] Nelson AT,Harris AK,Watson D,et al.Type I and Ir pleuropulmonary blastoma (PPB):a report from the International PPB/DICER1 Registry[J].Cancer,2023,129(4):600-613.DOI:10.1002/cncr.34593.
[20] Schultz KAP,Harris AK,Nelson AT,et al.Outcomes for children with type II and Type III pleuropulmonary blastoma following chemotherapy:a report from the International PPB/DICER1 Registry[J].J Clin Oncol,2023,41(4):778-789.DOI:10.1200/JCO.21.02925.
[21] Wang FH,Zhuang LW,Liang JH,et al.Treatment and prognosis of pleuropulmonary blastoma:a single-center report of 31 cases[J].Pediatr Pulmonol,2022,57(9):2237-2243.DOI:10.1002/ppul.25930.
[22] Habti M,Hubert G,Marzouki M,et al.Multimodal treatment including intracavitary chemotherapy for recurrent pediatric pleuropulmonary blastoma[J].Cureus,2021,13(12):e20584.DOI:10.7759/cureus.20584.

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备注/Memo

收稿日期:2026-3-12。
通讯作者:阳广贤,Email:ouyang_gx@sina.com

更新日期/Last Update: 1900-01-01