Pleuropulmonary blastoma: case report
DOI:
https://doi.org/10.13112/pc.1122Keywords:
pleuropulmonary blastoma; lung neoplasms; childrenAbstract
Objective: The aim of this report is to present the challenges in diagnosing pleuropulmonary blastoma, considering its rarity, heterogeneous clinical presentation, and diagnostic difficulties.
Case presentation: A 5-month-old male infant was hospitalized with an extensive right-sided pneumothorax in the setting of bronchiolitis caused by respiratory syncytial virus. Imaging revealed a bulla in the right lung. Following surgical resection, histopathological examination established the diagnosis of congenital cystic adenomatoid malformation (CCAM) of the lung, type I.At the age of 2.5 years, the patient was treated for pleuropneumonia. A solid–cystic mass was observed in the right hemithorax. The diagnosis of Ewing family sarcoma was established by ultrasound-guided needle biopsy. After neoadjuvant chemotherapy, a right bilobectomy was performed. Histopathological evaluation confirmed pleuropulmonary blastoma (PPB) type II, and genomic sequencing identified a pathogenic frameshift variant in the DICER1 gene. The same mutation was detected in the germline, confirming DICER1 syndrome. Seven months after completion of therapy, the patient remains in clinical remission.
Conclusion: Pleuropulmonary blastoma is a rare and aggressive intrathoracic tumor that should be considered in the differential diagnosis of congenital lung malformations, pulmonary or bronchial cysts, and pneumothorax. Timely recognition and multidisciplinary management, including surgery and chemotherapy, are crucial for a favorable prognosis.
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