Brain metastasis of pleuropulmonary blastoma: case reports.

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 DICER1 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 DICER1 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.