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胸膜肺母细胞瘤脑转移:病例报告

Brain metastasis of pleuropulmonary blastoma: case reports.

作者信息

He Sidou, Zhao Wen, Duan Chao, Fu Libing, Yu Tong, Ge Ming, Liu Zhikai, Cui Chunying, Ma Xiaoli, Su Yan

机构信息

Medical Oncology Department, Pediatric Oncology Center; Laboratory for Clinical Medicine, Capital Medical University; Beijing Key Laboratory of Pediatric Hematology Oncology; Key Laboratory of Major Diseases in Children, Ministry of Education; Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

Pathology Department, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

出版信息

Transl Pediatr. 2025 Mar 31;14(3):480-486. doi: 10.21037/tp-24-341. Epub 2025 Mar 26.

Abstract

BACKGROUND

Pleuropulmonary blastoma (PPB) is a rare and highly aggressive malignant tumor of the lung or pleura, primarily affecting children and closely associated with gene mutations. Patients with type II and III PPB are prone to distant metastasis, with the central nervous system (CNS) being the most common site of metastasis, leading to a poor prognosis.

CASE DESCRIPTION

This article provides a detailed account of the clinical manifestations, diagnostic processes, treatment plans, and follow-up outcomes of three children diagnosed with PPB accompanied by brain metastasis. Through the collaborative diagnosis and treatment by a multidisciplinary team, all three patients are currently in remission. As part of the diagnostic and treatment process, genetic testing was performed on two of the patients, revealing a pathogenic mutation in the gene in one of them.

CONCLUSIONS

Although the optimal treatment regimen for CNS metastasis in PPB remains unclear, combined treatment approaches offer new possibilities. In particular, brain computed tomography (CT) or magnetic resonance imaging (MRI) scans should be conducted every 3 months following the diagnosis of PPB to facilitate early detection of brain metastasis. Additionally, diagnosing PPB brain metastasis is challenging, and integrating patient history with genetic testing results plays a crucial role in distinguishing between primary intracranial tumors and PPB intracranial metastasis.

摘要

背景

肺胸膜母细胞瘤(PPB)是一种罕见且具有高度侵袭性的肺或胸膜恶性肿瘤,主要影响儿童,且与基因突变密切相关。II型和III型PPB患者容易发生远处转移,中枢神经系统(CNS)是最常见的转移部位,导致预后不良。

病例描述

本文详细介绍了三名诊断为PPB并伴有脑转移的儿童的临床表现、诊断过程、治疗方案和随访结果。通过多学科团队的协作诊断和治疗,所有三名患者目前均处于缓解期。作为诊断和治疗过程的一部分,对其中两名患者进行了基因检测,其中一名患者检测到该基因存在致病突变。

结论

尽管PPB中枢神经系统转移的最佳治疗方案仍不明确,但联合治疗方法提供了新的可能性。特别是,在诊断PPB后应每3个月进行一次脑部计算机断层扫描(CT)或磁共振成像(MRI)扫描,以便早期发现脑转移。此外,诊断PPB脑转移具有挑战性,将患者病史与基因检测结果相结合在区分原发性颅内肿瘤和PPB颅内转移方面起着关键作用。

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